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1314 lines
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<!--
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||
UID=2039
|
||
ConceptID=C0003811
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cardiac arrhythmia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2039</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0003811</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Cardiac rhythm disease</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Arrhythmia (698247007); Cardiac dysrhythmia (698247007); Disorder of heart rhythm (698247007); Cardiac arrhythmia (698247007)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/6262">RYR2</a>, <a target="_blank" href="/gene/2771">GNAI2</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0011675">HP:0011675</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007263" target="_blank">MONDO:0007263</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0003811[DISCUI]&test_type=Clinical" ref="ncbi_uid=2039">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=2039" ref="ncbi_uid=2039">V</a></span></span><span class="TLline">Cardiac arrhythmia</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5681782[DISCUI]&test_type=Clinical" ref="ncbi_uid=1826132">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1826132" ref="tree=GTR&ncbi_uid=1826132&link_uid=1826132" title="View MedGen record for 'Genetic cardiac rhythm disease'">Genetic cardiac rhythm disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0340485[DISCUI]&test_type=Clinical" ref="ncbi_uid=83309">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=83309" target="_blank" href="/omim/192605">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/83309" ref="tree=GTR&ncbi_uid=83309&link_uid=83309" title="View MedGen record for 'Familial ventricular tachycardia'">Familial ventricular tachycardia</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5542154[DISCUI]&test_type=Clinical" ref="ncbi_uid=1781114">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1781114" target="_blank" href="/omim/115000">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1781114" ref="ncbi_uid=1781114">V</a></span></span><span class="TLline"><a href="/medgen/1781114" ref="tree=GTR&ncbi_uid=1781114&link_uid=1781114" title="View MedGen record for 'Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome'">Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/2848" ref="tree=MeSH" title="MedGen record for Disorder of cardiovascular system">Disorder of cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/869166" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system physiology">Abnormal cardiovascular system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1393551" ref="tree=MeSH" title="MedGen record for Abnormality of cardiovascular system electrophysiology">Abnormality of cardiovascular system electrophysiology</a></span><ul><li><span class="matched_ds">Cardiac arrhythmia</span><ul><li><span class="TLline"><a href="/medgen/868812" ref="tree=MeSH" title="MedGen record for Abnormal electrophysiology of sinoatrial node origin">Abnormal electrophysiology of sinoatrial node origin</a></span><ul><li><span class="TLline"><a href="/medgen/39316" ref="tree=MeSH" title="MedGen record for Sinus bradycardia">Sinus bradycardia</a></span></li><li><span class="TLline"><a href="/medgen/11700" ref="tree=MeSH" title="MedGen record for Sinus tachycardia">Sinus tachycardia</a></span><ul><li><span class="TLline"><a href="/medgen/363485" ref="tree=MeSH" title="MedGen record for Inappropriate sinus tachycardia">Inappropriate sinus tachycardia</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1631567" ref="tree=MeSH" title="MedGen record for Abnormal heart rate variability">Abnormal heart rate variability</a></span><ul><li><span class="TLline"><a href="/medgen/1639159" ref="tree=MeSH" title="MedGen record for Decreased heart rate variability">Decreased heart rate variability</a></span></li><li><span class="TLline"><a href="/medgen/1644626" ref="tree=MeSH" title="MedGen record for Increased heart rate variability">Increased heart rate variability</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/445" ref="tree=MeSH" title="MedGen record for Atrial fibrillation">Atrial fibrillation</a></span><ul><li><span class="TLline"><a href="/medgen/373232" ref="tree=MeSH" title="MedGen record for Atrial fibrillation, familial, 3">Atrial fibrillation, familial, 3</a></span></li><li><span class="TLline"><a href="/medgen/400041" ref="tree=MeSH" title="MedGen record for Atrial fibrillation, familial, 4">Atrial fibrillation, familial, 4</a></span></li><li><span class="TLline"><a href="/medgen/393658" ref="tree=MeSH" title="MedGen record for Atrial fibrillation, familial, 7">Atrial fibrillation, familial, 7</a></span></li><li><span class="TLline"><a href="/medgen/462781" ref="tree=MeSH" title="MedGen record for Atrial fibrillation, familial, 9">Atrial fibrillation, familial, 9</a></span></li><li><span class="TLline"><a href="/medgen/481323" ref="tree=MeSH" title="MedGen record for Atrial fibrillation, familial, 11">Atrial fibrillation, familial, 11</a></span></li><li><span class="TLline"><a href="/medgen/481325" ref="tree=MeSH" title="MedGen record for Atrial fibrillation, familial, 12">Atrial fibrillation, familial, 12</a></span></li><li><span class="TLline"><a href="/medgen/151957" ref="tree=MeSH" title="MedGen record for Chronic atrial fibrillation">Chronic atrial fibrillation</a></span></li><li><span class="TLline"><a href="/medgen/115990" ref="tree=MeSH" title="MedGen record for Paroxysmal atrial fibrillation">Paroxysmal atrial fibrillation</a></span></li><li><span class="TLline"><a href="/medgen/750308" ref="tree=MeSH" title="MedGen record for Permanent atrial fibrillation">Permanent atrial fibrillation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/13955" ref="tree=MeSH" title="MedGen record for Atrial flutter">Atrial flutter</a></span><ul><li><span class="TLline"><a href="/medgen/1639837" ref="tree=MeSH" title="MedGen record for Reverse typical atrial flutter">Reverse typical atrial flutter</a></span></li><li><span class="TLline"><a href="/medgen/923694" ref="tree=MeSH" title="MedGen record for Typical atrial flutter">Typical atrial flutter</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/140901" ref="tree=MeSH" title="MedGen record for Bradycardia">Bradycardia</a></span></li><li><span class="TLline"><a href="/medgen/222975" ref="tree=MeSH" title="MedGen record for Brugada syndrome">Brugada syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1646402" ref="tree=MeSH" title="MedGen record for Brugada syndrome 1">Brugada syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/382031" ref="tree=MeSH" title="MedGen record for Brugada syndrome 2">Brugada syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/395633" ref="tree=MeSH" title="MedGen record for Brugada syndrome 3">Brugada syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/395632" ref="tree=MeSH" title="MedGen record for Brugada syndrome 4">Brugada syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/411607" ref="tree=MeSH" title="MedGen record for Brugada syndrome 5">Brugada syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/413473" ref="tree=MeSH" title="MedGen record for Brugada syndrome 6">Brugada syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/413472" ref="tree=MeSH" title="MedGen record for Brugada syndrome 7">Brugada syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/413928" ref="tree=MeSH" title="MedGen record for Brugada syndrome 8">Brugada syndrome 8</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5456" ref="tree=MeSH" title="MedGen record for Cardiac arrest">Cardiac arrest</a></span><ul><li><span class="TLline"><a href="/medgen/1632505" ref="tree=MeSH" title="MedGen record for Aborted sudden cardiac death">Aborted sudden cardiac death</a></span></li><li><span class="TLline"><a href="/medgen/476419" ref="tree=MeSH" title="MedGen record for Bradycardia Arrest">Bradycardia Arrest</a></span></li><li><span class="TLline"><a href="/medgen/476686" ref="tree=MeSH" title="MedGen record for Cardiac Arrest Prior to Percutaneous Coronary Intervention">Cardiac Arrest Prior to Percutaneous Coronary Intervention</a></span></li><li><span class="TLline"><a href="/medgen/1643963" ref="tree=MeSH" title="MedGen record for Cardiac Arrest Requiring Cardiopulmonary Resuscitation">Cardiac Arrest Requiring Cardiopulmonary Resuscitation</a></span></li><li><span class="TLline"><a href="/medgen/473910" ref="tree=MeSH" title="MedGen record for Cardiac Arrest/Arrhythmia Etiology Unknown">Cardiac Arrest/Arrhythmia Etiology Unknown</a></span></li><li><span class="TLline"><a href="/medgen/361525" ref="tree=MeSH" title="MedGen record for In-Hospital Cardiac Arrest">In-Hospital Cardiac Arrest</a></span></li><li><span class="TLline"><a href="/medgen/422364" ref="tree=MeSH" title="MedGen record for Out-of-Hospital Cardiac Arrest">Out-of-Hospital Cardiac Arrest</a></span></li><li><span class="TLline"><a href="/medgen/364320" ref="tree=MeSH" title="MedGen record for Resuscitated Cardiac Arrest Event">Resuscitated Cardiac Arrest Event</a></span></li><li><span class="TLline"><a href="/medgen/38841" ref="tree=MeSH" title="MedGen record for Sudden cardiac death">Sudden cardiac death</a></span><ul><li><span class="TLline"><a href="/medgen/827233" ref="tree=MeSH" title="MedGen record for Karoshi Death">Karoshi Death</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/476416" ref="tree=MeSH" title="MedGen record for Ventricular Tachycardia/Ventricular Fibrillation Arrest">Ventricular Tachycardia/Ventricular Fibrillation Arrest</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/439278" ref="tree=MeSH" title="MedGen record for Commotio Cordis">Commotio Cordis</a></span></li><li><span class="TLline"><a href="/medgen/83308" ref="tree=MeSH" title="MedGen record for Ectopic beats">Ectopic beats</a></span><ul><li><span class="TLline"><a href="/medgen/19455" ref="tree=MeSH" title="MedGen record for Premature atrial contractions">Premature atrial contractions</a></span></li><li><span class="TLline"><a href="/medgen/56236" ref="tree=MeSH" title="MedGen record for Premature ventricular contraction">Premature ventricular contraction</a></span><ul><li><span class="TLline"><a href="/medgen/370007" ref="tree=MeSH" title="MedGen record for Bidirectional ventricular ectopy">Bidirectional ventricular ectopy</a></span></li><li><span class="TLline"><a href="/medgen/870550" ref="tree=MeSH" title="MedGen record for Polymorphic and polytopic ventricular extrasystoles">Polymorphic and polytopic ventricular extrasystoles</a></span></li><li><span class="TLline"><a href="/medgen/452515" ref="tree=MeSH" title="MedGen record for Ventricular couplet">Ventricular couplet</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/43215" ref="tree=MeSH" title="MedGen record for First degree atrioventricular block">First degree atrioventricular block</a></span></li><li><span class="TLline"><a href="/medgen/1826132" ref="tree=MeSH" title="MedGen record for Genetic cardiac rhythm disease">Genetic cardiac rhythm disease</a></span><ul><li><span class="TLline"><a href="/medgen/327586" ref="tree=MeSH" title="MedGen record for Andersen Tawil syndrome">Andersen Tawil syndrome</a></span></li><li><span class="TLline"><a href="/medgen/863722" ref="tree=MeSH" title="MedGen record for Atrial conduction disease">Atrial conduction disease</a></span></li><li><span class="TLline"><a href="/medgen/477726" ref="tree=MeSH" title="MedGen record for Atrial septal defect 7">Atrial septal defect 7</a></span></li><li><span class="TLline"><a href="/medgen/639047" ref="tree=MeSH" title="MedGen record for Atrial standstill">Atrial standstill</a></span><ul><li><span class="TLline"><a href="/medgen/1646392" ref="tree=MeSH" title="MedGen record for Atrial standstill 1">Atrial standstill 1</a></span></li><li><span class="TLline"><a href="/medgen/816731" ref="tree=MeSH" title="MedGen record for Atrial standstill 2">Atrial standstill 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1799561" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2X">Autosomal recessive limb-girdle muscular dystrophy type 2X</a></span></li><li><span class="TLline"><a href="/medgen/350609" ref="tree=MeSH" title="MedGen record for Brachydactyly-long thumb syndrome">Brachydactyly-long thumb syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1803763" ref="tree=MeSH" title="MedGen record for Catecholaminergic polymorphic ventricular tachycardia">Catecholaminergic polymorphic ventricular tachycardia</a></span></li><li><span class="TLline"><a href="/medgen/863911" ref="tree=MeSH" title="MedGen record for Chronic atrial and intestinal dysrhythmia">Chronic atrial and intestinal dysrhythmia</a></span></li><li><span class="TLline"><a href="/medgen/57432" ref="tree=MeSH" title="MedGen record for Congenital heart block">Congenital heart block</a></span></li><li><span class="TLline"><a href="/medgen/894635" ref="tree=MeSH" title="MedGen record for Familial atrial fibrillation">Familial atrial fibrillation</a></span></li><li><span class="TLline"><a href="/medgen/573766" ref="tree=MeSH" title="MedGen record for Familial sick sinus syndrome">Familial sick sinus syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/325270" ref="tree=MeSH" title="MedGen record for Sick sinus syndrome 1">Sick sinus syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/320273" ref="tree=MeSH" title="MedGen record for Sick sinus syndrome 2, autosomal dominant">Sick sinus syndrome 2, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/481421" ref="tree=MeSH" title="MedGen record for Sick sinus syndrome 3, susceptibility to">Sick sinus syndrome 3, susceptibility to</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/83309" ref="tree=MeSH" title="MedGen record for Familial ventricular tachycardia">Familial ventricular tachycardia</a></span></li><li><span class="TLline"><a href="/medgen/1800300" ref="tree=MeSH" title="MedGen record for Gnb5-related intellectual disability-cardiac arrhythmia syndrome">Gnb5-related intellectual disability-cardiac arrhythmia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/444030" ref="tree=MeSH" title="MedGen record for Heart-hand syndrome type 2">Heart-hand syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/333883" ref="tree=MeSH" title="MedGen record for Heart-hand syndrome type 3">Heart-hand syndrome type 3</a></span></li><li><span class="TLline"><a href="/medgen/341859" ref="tree=MeSH" title="MedGen record for Heart-hand syndrome, Slovenian type">Heart-hand syndrome, Slovenian type</a></span></li><li><span class="TLline"><a href="/medgen/310844" ref="tree=MeSH" title="MedGen record for Histiocytoid cardiomyopathy">Histiocytoid cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/120524" ref="tree=MeSH" title="MedGen record for Holt-Oram syndrome">Holt-Oram syndrome</a></span></li><li><span class="TLline"><a href="/medgen/21066" ref="tree=MeSH" title="MedGen record for Junctional ectopic tachycardia">Junctional ectopic tachycardia</a></span></li><li><span class="TLline"><a href="/medgen/354734" ref="tree=MeSH" title="MedGen record for Lown-Ganong-Levine syndrome">Lown-Ganong-Levine syndrome</a></span></li><li><span class="TLline"><a href="/medgen/83310" ref="tree=MeSH" title="MedGen record for Paroxysmal familial ventricular fibrillation">Paroxysmal familial ventricular fibrillation</a></span><ul><li><span class="TLline"><a href="/medgen/442823" ref="tree=MeSH" title="MedGen record for Ventricular fibrillation, paroxysmal familial, 2">Ventricular fibrillation, paroxysmal familial, 2</a></span></li><li><span class="TLline"><a href="/medgen/414502" ref="tree=MeSH" title="MedGen record for Ventricular fibrillation, paroxysmal familial, type 1">Ventricular fibrillation, paroxysmal familial, type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1631060" ref="tree=MeSH" title="MedGen record for Progressive familial heart block">Progressive familial heart block</a></span></li><li><span class="TLline"><a href="/medgen/930500" ref="tree=MeSH" title="MedGen record for Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome">Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1798947" ref="tree=MeSH" title="MedGen record for Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome">Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/378835" ref="tree=MeSH" title="MedGen record for Short QT syndrome">Short QT syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/355891" ref="tree=MeSH" title="MedGen record for Short QT syndrome type 1">Short QT syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/355890" ref="tree=MeSH" title="MedGen record for Short QT syndrome type 2">Short QT syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/400662" ref="tree=MeSH" title="MedGen record for Short QT syndrome type 3">Short QT syndrome type 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/766932" ref="tree=MeSH" title="MedGen record for Sinoatrial node dysfunction and deafness">Sinoatrial node dysfunction and deafness</a></span></li><li><span class="TLline"><a href="/medgen/462201" ref="tree=MeSH" title="MedGen record for Torsade-de-pointes syndrome with short coupling interval">Torsade-de-pointes syndrome with short coupling interval</a></span></li><li><span class="TLline"><a href="/medgen/1781114" ref="tree=MeSH" title="MedGen record for Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome">Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome</a></span></li><li><span class="TLline"><a href="/medgen/763827" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome">X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/42363" ref="tree=MeSH" title="MedGen record for Heart block">Heart block</a></span><ul><li><span class="TLline"><a href="/medgen/1741" ref="tree=MeSH" title="MedGen record for Adams-Stokes syndrome">Adams-Stokes syndrome</a></span></li><li><span class="TLline"><a href="/medgen/13956" ref="tree=MeSH" title="MedGen record for Atrioventricular block">Atrioventricular block</a></span><ul><li><span class="TLline"><a href="/medgen/384561" ref="tree=MeSH" title="MedGen record for 2:1 Atrioventricular Block by ECG Finding">2:1 Atrioventricular Block by ECG Finding</a></span></li><li><span class="TLline"><a href="/medgen/870558" ref="tree=MeSH" title="MedGen record for Absent atrioventricular node">Absent atrioventricular node</a></span></li><li><span class="TLline"><a href="/medgen/811633" ref="tree=MeSH" title="MedGen record for AV Block First Degree by ECG Finding">AV Block First Degree by ECG Finding</a></span></li><li><span class="TLline"><a href="/medgen/811441" ref="tree=MeSH" title="MedGen record for AV Block Second Degree by ECG Finding">AV Block Second Degree by ECG Finding</a></span></li><li><span class="TLline"><a href="/medgen/776576" ref="tree=MeSH" title="MedGen record for AV Block Third Degree by ECG Finding">AV Block Third Degree by ECG Finding</a></span></li><li><span class="TLline"><a href="/medgen/364173" ref="tree=MeSH" title="MedGen record for Paroxysmal Atrioventricular Block by ECG Finding">Paroxysmal Atrioventricular Block by ECG Finding</a></span></li><li><span class="TLline"><a href="/medgen/75546" ref="tree=MeSH" title="MedGen record for Second degree atrioventricular block">Second degree atrioventricular block</a></span></li><li><span class="TLline"><a href="/medgen/56230" ref="tree=MeSH" title="MedGen record for Third degree atrioventricular block">Third degree atrioventricular block</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2752" ref="tree=MeSH" title="MedGen record for Bundle branch block">Bundle branch block</a></span><ul><li><span class="TLline"><a href="/medgen/576272" ref="tree=MeSH" title="MedGen record for EKG: right bundle branch block">EKG: right bundle branch block</a></span></li><li><span class="TLline"><a href="/medgen/75475" ref="tree=MeSH" title="MedGen record for Incomplete Bundle Branch Block by ECG Finding">Incomplete Bundle Branch Block by ECG Finding</a></span></li><li><span class="TLline"><a href="/medgen/82648" ref="tree=MeSH" title="MedGen record for Incomplete right bundle branch block">Incomplete right bundle branch block</a></span></li><li><span class="TLline"><a href="/medgen/7286" ref="tree=MeSH" title="MedGen record for Left bundle branch block">Left bundle branch block</a></span></li><li><span class="TLline"><a href="/medgen/88445" ref="tree=MeSH" title="MedGen record for Right bundle branch block">Right bundle branch block</a></span></li><li><span class="TLline"><a href="/medgen/488790" ref="tree=MeSH" title="MedGen record for Trifascicular block">Trifascicular block</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1372539" ref="tree=MeSH" title="MedGen record for Interatrial Block">Interatrial Block</a></span></li><li><span class="TLline"><a href="/medgen/20749" ref="tree=MeSH" title="MedGen record for Sick sinus syndrome">Sick sinus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/19984" ref="tree=MeSH" title="MedGen record for Sinoatrial block">Sinoatrial block</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/44193" ref="tree=MeSH" title="MedGen record for Long QT syndrome">Long QT syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/685787" ref="tree=MeSH" title="MedGen record for Congenital long QT syndrome">Congenital long QT syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/5929" ref="tree=MeSH" title="MedGen record for Jervell and Lange-Nielsen syndrome">Jervell and Lange-Nielsen syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1641146" ref="tree=MeSH" title="MedGen record for Long QT syndrome 1">Long QT syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/462293" ref="tree=MeSH" title="MedGen record for Long QT syndrome 2">Long QT syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/349087" ref="tree=MeSH" title="MedGen record for Long QT syndrome 3">Long QT syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/358092" ref="tree=MeSH" title="MedGen record for Long QT syndrome 5">Long QT syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/462303" ref="tree=MeSH" title="MedGen record for Long QT syndrome 6">Long QT syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/395635" ref="tree=MeSH" title="MedGen record for Long QT syndrome 9">Long QT syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/394836" ref="tree=MeSH" title="MedGen record for Long QT syndrome 10">Long QT syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/437218" ref="tree=MeSH" title="MedGen record for Long QT syndrome 11">Long QT syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/442824" ref="tree=MeSH" title="MedGen record for Long QT syndrome 12">Long QT syndrome 12</a></span></li><li><span class="TLline"><a href="/medgen/462083" ref="tree=MeSH" title="MedGen record for Long QT syndrome 13">Long QT syndrome 13</a></span></li><li><span class="TLline"><a href="/medgen/331395" ref="tree=MeSH" title="MedGen record for Timothy syndrome">Timothy syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/864108" ref="tree=MeSH" title="MedGen record for Long QT syndrome 14">Long QT syndrome 14</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/14579" ref="tree=MeSH" title="MedGen record for Palpitations">Palpitations</a></span></li><li><span class="TLline"><a href="/medgen/60067" ref="tree=MeSH" title="MedGen record for Parasystole">Parasystole</a></span></li><li><span class="TLline"><a href="/medgen/46059" ref="tree=MeSH" title="MedGen record for Pre-Excitation Syndrome">Pre-Excitation Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/18609" ref="tree=MeSH" title="MedGen record for Pre-Excitation, Mahaim-Type">Pre-Excitation, Mahaim-Type</a></span></li><li><span class="TLline"><a href="/medgen/12162" ref="tree=MeSH" title="MedGen record for Wolff-Parkinson-White pattern">Wolff-Parkinson-White pattern</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/406301" ref="tree=MeSH" title="MedGen record for Progressive familial heart block, type 1A">Progressive familial heart block, type 1A</a></span></li><li><span class="TLline"><a href="/medgen/398" ref="tree=MeSH" title="MedGen record for Sinus arrhythmia">Sinus arrhythmia</a></span><ul><li><span class="TLline"><a href="/medgen/363039" ref="tree=MeSH" title="MedGen record for Sinus Arrest, Cardiac">Sinus Arrest, Cardiac</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/96544" ref="tree=MeSH" title="MedGen record for Supraventricular arrhythmia">Supraventricular arrhythmia</a></span><ul><li><span class="TLline"><a href="/medgen/39317" ref="tree=MeSH" title="MedGen record for Atrial arrhythmia">Atrial arrhythmia</a></span><ul><li><span class="TLline"><a href="/medgen/820422" ref="tree=MeSH" title="MedGen record for Abnormal U wave">Abnormal U wave</a></span></li><li><span class="TLline"><a href="/medgen/537419" ref="tree=MeSH" title="MedGen record for Atrial bigeminy">Atrial bigeminy</a></span></li><li><span class="TLline"><a href="/medgen/769474" ref="tree=MeSH" title="MedGen record for Atrial Couplet by ECG Finding">Atrial Couplet by ECG Finding</a></span></li><li><span class="TLline"><a href="/medgen/897113" ref="tree=MeSH" title="MedGen record for Atrial Premature Complex by ECG Finding">Atrial Premature Complex by ECG Finding</a></span></li><li><span class="TLline"><a href="/medgen/868813" ref="tree=MeSH" title="MedGen record for Atrial reentry tachycardia">Atrial reentry tachycardia</a></span></li><li><span class="TLline"><a href="/medgen/606891" ref="tree=MeSH" title="MedGen record for Atrial trigeminy">Atrial trigeminy</a></span></li><li><span class="TLline"><a href="/medgen/854505" ref="tree=MeSH" title="MedGen record for Atrioventricular Nodal Reentry Tachycardia by ECG Finding">Atrioventricular Nodal Reentry Tachycardia by ECG Finding</a></span></li><li><span class="TLline"><a href="/medgen/52634" ref="tree=MeSH" title="MedGen record for Automatic atrial tachycardia">Automatic atrial tachycardia</a></span></li><li><span class="TLline"><a href="/medgen/817654" ref="tree=MeSH" title="MedGen record for AV Block Second Degree Mobitz Type I by ECG Finding">AV Block Second Degree Mobitz Type I by ECG Finding</a></span></li><li><span class="TLline"><a href="/medgen/817655" ref="tree=MeSH" title="MedGen record for AV Block Second Degree Mobitz Type II by ECG Finding">AV Block Second Degree Mobitz Type II by ECG Finding</a></span></li><li><span class="TLline"><a href="/medgen/68556" ref="tree=MeSH" title="MedGen record for AV junctional rhythm">AV junctional rhythm</a></span></li><li><span class="TLline"><a href="/medgen/868808" ref="tree=MeSH" title="MedGen record for Chaotic multifocal atrial tachycardia">Chaotic multifocal atrial tachycardia</a></span></li><li><span class="TLline"><a href="/medgen/363304" ref="tree=MeSH" title="MedGen record for Ectopic Atrial Rhythm by ECG Finding">Ectopic Atrial Rhythm by ECG Finding</a></span></li><li><span class="TLline"><a href="/medgen/412239" ref="tree=MeSH" title="MedGen record for Intra-Atrial Conduction Delay by ECG Finding">Intra-Atrial Conduction Delay by ECG Finding</a></span></li><li><span class="TLline"><a href="/medgen/148171" ref="tree=MeSH" title="MedGen record for Junctional Bradycardia by ECG Finding">Junctional Bradycardia by ECG Finding</a></span></li><li><span class="TLline"><a href="/medgen/66362" ref="tree=MeSH" title="MedGen record for Multifocal atrial tachycardia">Multifocal atrial tachycardia</a></span></li><li><span class="TLline"><a href="/medgen/82686" ref="tree=MeSH" title="MedGen record for Nodal rhythm disorder">Nodal rhythm disorder</a></span></li><li><span class="TLline"><a href="/medgen/154645" ref="tree=MeSH" title="MedGen record for Prolonged PR interval">Prolonged PR interval</a></span></li><li><span class="TLline"><a href="/medgen/105466" ref="tree=MeSH" title="MedGen record for Shortened PR interval">Shortened PR interval</a></span></li><li><span class="TLline"><a href="/medgen/1714872" ref="tree=MeSH" title="MedGen record for Sinus Bradycardia by ECG Finding">Sinus Bradycardia by ECG Finding</a></span></li><li><span class="TLline"><a href="/medgen/231159" ref="tree=MeSH" title="MedGen record for Wandering atrial pacemaker">Wandering atrial pacemaker</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/52635" ref="tree=MeSH" title="MedGen record for Supraventricular tachycardia">Supraventricular tachycardia</a></span><ul><li><span class="TLline"><a href="/medgen/107485" ref="tree=MeSH" title="MedGen record for atrial tachycardia">atrial tachycardia</a></span></li><li><span class="TLline"><a href="/medgen/488947" ref="tree=MeSH" title="MedGen record for AV nodal tachycardia">AV nodal tachycardia</a></span></li><li><span class="TLline"><a href="/medgen/573758" ref="tree=MeSH" title="MedGen record for Congenital His bundle tachycardia">Congenital His bundle tachycardia</a></span></li><li><span class="TLline"><a href="/medgen/768670" ref="tree=MeSH" title="MedGen record for Congenital Supraventricular Tachycardia">Congenital Supraventricular Tachycardia</a></span></li><li><span class="TLline"><a href="/medgen/18314" ref="tree=MeSH" title="MedGen record for Paroxysmal supraventricular tachycardia">Paroxysmal supraventricular tachycardia</a></span></li><li><span class="TLline"><a href="/medgen/866781" ref="tree=MeSH" title="MedGen record for Supraventricular tachycardia with an accessory connection mediated pathway">Supraventricular tachycardia with an accessory connection mediated pathway</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/36383" ref="tree=MeSH" title="MedGen record for Tachyarrhythmia">Tachyarrhythmia</a></span></li><li><span class="TLline"><a href="/medgen/21453" ref="tree=MeSH" title="MedGen record for Tachycardia">Tachycardia</a></span><ul><li><span class="TLline"><a href="/medgen/21067" ref="tree=MeSH" title="MedGen record for Paroxysmal tachycardia">Paroxysmal tachycardia</a></span><ul><li><span class="TLline"><a href="/medgen/776563" ref="tree=MeSH" title="MedGen record for Paroxysmal Supraventricular Tachycardia by ECG Finding">Paroxysmal Supraventricular Tachycardia by ECG Finding</a></span></li><li><span class="TLline"><a href="/medgen/18315" ref="tree=MeSH" title="MedGen record for Paroxysmal ventricular tachycardia">Paroxysmal ventricular tachycardia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/116606" ref="tree=MeSH" title="MedGen record for Tachycardia, Reciprocating">Tachycardia, Reciprocating</a></span><ul><li><span class="TLline"><a href="/medgen/11698" ref="tree=MeSH" title="MedGen record for Re-entrant atrioventricular node tachycardia">Re-entrant atrioventricular node tachycardia</a></span></li><li><span class="TLline"><a href="/medgen/11699" ref="tree=MeSH" title="MedGen record for Tachycardia, Sinoatrial Nodal Reentry">Tachycardia, Sinoatrial Nodal Reentry</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/12068" ref="tree=MeSH" title="MedGen record for Ventricular tachycardia">Ventricular tachycardia</a></span><ul><li><span class="TLline"><a href="/medgen/36248" ref="tree=MeSH" title="MedGen record for Accelerated idioventricular rhythm">Accelerated idioventricular rhythm</a></span></li><li><span class="TLline"><a href="/medgen/418944" ref="tree=MeSH" title="MedGen record for Bidirectional tachycardia">Bidirectional tachycardia</a></span></li><li><span class="TLline"><a href="/medgen/768669" ref="tree=MeSH" title="MedGen record for Congenital Ventricular Tachycardia">Congenital Ventricular Tachycardia</a></span></li><li><span class="TLline"><a href="/medgen/870838" ref="tree=MeSH" title="MedGen record for Effort-induced polymorphic ventricular tachycardia">Effort-induced polymorphic ventricular tachycardia</a></span></li><li><span class="TLline"><a href="/medgen/1636662" ref="tree=MeSH" title="MedGen record for Fascicular left ventricular tachycardia">Fascicular left ventricular tachycardia</a></span></li><li><span class="TLline"><a href="/medgen/91027" ref="tree=MeSH" title="MedGen record for Monomorphic ventricular tachycardia">Monomorphic ventricular tachycardia</a></span></li><li><span class="TLline"><a href="/medgen/821369" ref="tree=MeSH" title="MedGen record for Pediatric Non-Congenital Ventricular Tachycardia">Pediatric Non-Congenital Ventricular Tachycardia</a></span></li><li><span class="TLline"><a href="/medgen/138002" ref="tree=MeSH" title="MedGen record for Polymorphic ventricular tachycardia">Polymorphic ventricular tachycardia</a></span></li><li><span class="TLline"><a href="/medgen/21214" ref="tree=MeSH" title="MedGen record for Torsades de pointes">Torsades de pointes</a></span></li><li><span class="TLline"><a href="/medgen/56266" ref="tree=MeSH" title="MedGen record for Ventricular flutter">Ventricular flutter</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/39082" ref="tree=MeSH" title="MedGen record for Ventricular arrhythmia">Ventricular arrhythmia</a></span><ul><li><span class="TLline"><a href="/medgen/75503" ref="tree=MeSH" title="MedGen record for Ventricular bigeminy">Ventricular bigeminy</a></span></li><li><span class="TLline"><a href="/medgen/65423" ref="tree=MeSH" title="MedGen record for Ventricular escape rhythm">Ventricular escape rhythm</a></span></li><li><span class="TLline"><a href="/medgen/21844" ref="tree=MeSH" title="MedGen record for Ventricular fibrillation">Ventricular fibrillation</a></span></li><li><span class="TLline"><a href="/medgen/107848" ref="tree=MeSH" title="MedGen record for Ventricular preexcitation">Ventricular preexcitation</a></span><ul><li><span class="TLline"><a href="/medgen/870556" ref="tree=MeSH" title="MedGen record for Ventricular preexcitation with multiple accessory pathways">Ventricular preexcitation with multiple accessory pathways</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_8083"><div><strong>Fabry disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8083</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0002986</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity of the enzyme alpha-galactosidase A (a-Gal A), leading to progressive lysosomal deposition of globotriaosylceramide and its derivatives in cells throughout the body. The classic form, occurring in males with less than 1% a-Gal A enzyme activity, usually has its onset in childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesia), the appearance of vascular cutaneous lesions (angiokeratomas), sweating abnormalities (anhidrosis, hypohidrosis, and rarely hyperhidrosis), characteristic corneal and lenticular opacities, and proteinuria. Gradual deterioration of kidney function to end-stage kidney disease (ESKD) usually occurs in men in the third to fifth decade. In middle age, most males successfully treated for ESKD develop cardiac and/or cerebrovascular disease, a major cause of morbidity and mortality. Heterozygous females typically have milder symptoms at a later age of onset than males. Rarely, females may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. In contrast, late-onset forms occur in males with greater than 1% a-Gal A activity. Clinical manifestations include cardiac disease, which usually presents in the sixth to eighth decade with left ventricular hypertrophy, cardiomyopathy, arrhythmia, and proteinuria; kidney failure, associated with ESKD but without the skin lesions or pain; or cerebrovascular disease presenting as stroke or transient ischemic attack.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/8083">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_3925"><div><strong>Duchenne muscular dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3925</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013264</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated DCM when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed motor milestones including delays in walking independently and standing up from a supine position. Proximal weakness causes a waddling gait and difficulty climbing stairs, running, jumping, and standing up from a squatting position. DMD is rapidly progressive, with affected children being wheelchair dependent by age 12 years. Cardiomyopathy occurs in almost all individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and progressive cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness. With improved diagnostic techniques, it has been recognized that the mild end of the spectrum includes men with onset of symptoms after age 30 years who remain ambulatory even into their 60s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilatation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/3925">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_9618"><div><strong>Kearns-Sayre syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9618</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0022541</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Single large-scale mitochondrial DNA deletion syndromes (SLSMDSs) comprise overlapping clinical phenotypes including Kearns-Sayre syndrome (KSS), KSS spectrum, Pearson syndrome (PS), chronic progressive external ophthalmoplegia (CPEO), and CPEO-plus. KSS is a progressive multisystem disorder with onset before age 20 years characterized by pigmentary retinopathy, CPEO, and cardiac conduction abnormality. Additional features can include cerebellar ataxia, tremor, intellectual disability or cognitive decline, dementia, sensorineural hearing loss, oropharyngeal and esophageal dysfunction, exercise intolerance, muscle weakness, and endocrinopathies. Brain imaging typically shows bilateral lesions in the globus pallidus and white matter. KSS spectrum includes individuals with KSS in addition to individuals with ptosis and/or ophthalmoparesis and at least one of the following: retinopathy, ataxia, cardiac conduction defects, hearing loss, growth deficiency, cognitive impairment, tremor, or cardiomyopathy. Compared to CPEO-plus, individuals with KSS spectrum have more severe muscle involvement (e.g., weakness, atrophy) and overall have a worse prognosis. PS is characterized by pancytopenia (typically transfusion-dependent sideroblastic anemia with variable cell line involvement), exocrine pancreatic dysfunction, poor weight gain, and lactic acidosis. PS manifestations also include renal tubular acidosis, short stature, and elevated liver enzymes. PS may be fatal in infancy due to neutropenia-related infection or refractory metabolic acidosis. CPEO is characterized by ptosis, ophthalmoplegia, oropharyngeal weakness, variable proximal limb weakness, and/or exercise intolerance. CPEO-plus includes CPEO with additional multisystemic involvement including neuropathy, diabetes mellitus, migraines, hypothyroidism, neuropsychiatric manifestations, and optic neuropathy. Rarely, an SLSMDS can manifest as Leigh syndrome, which is characterized as developmental delays, neurodevelopmental regression, lactic acidosis, and bilateral symmetric basal ganglia, brain stem, and/or midbrain lesions on MRI.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/9618">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_11161"><div><strong>Phytanic acid storage disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11161</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0034960</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Adult Refsum disease (ARD is associated with elevated plasma phytanic acid levels, late childhood-onset (or later) retinitis pigmentosa, and variable combinations of anosmia, polyneuropathy, deafness, ataxia, and ichthyosis. Onset of symptoms ranges from age seven months to older than age 50 years. Cardiac arrhythmia and heart failure caused by cardiomyopathy are potentially severe health problems that develop later in life.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/11161">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_56485"><div><strong>MELAS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56485</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0162671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a multisystem disorder with protean manifestations. The vast majority of affected individuals develop signs and symptoms of MELAS between ages two and 40 years. Common clinical manifestations include stroke-like episodes, encephalopathy with seizures and/or dementia, muscle weakness and exercise intolerance, normal early psychomotor development, recurrent headaches, recurrent vomiting, hearing impairment, peripheral neuropathy, learning disability, and short stature. During the stroke-like episodes neuroimaging shows increased T2-weighted signal areas that do not correspond to the classic vascular distribution (hence the term "stroke-like"). Lactic acidemia is very common and muscle biopsies typically show ragged red fibers.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/56485">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_113102"><div><strong>Cataract 46 juvenile-onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113102</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0220721</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Juvenile-onset cataract-46 with or without arrhythmic cardiomyopathy (CTRCT46) is characterized by onset of cataract in the first decades of life, associated with variable onset of a severe form of arrhythmic cardiomyopathy, with mild impairment of left ventricular systolic function but severe ventricular arrhythmias resulting in sudden cardiac death. Affected individuals are descendants of the Hutterite founder population (Abdelfatah et al., 2019).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/113102">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_78114"><div><strong>Conduction disorder of the heart</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78114</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0264886</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Any abnormal alteration of atrioventricular conduction.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/78114">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_75566"><div><strong>Distichiasis-lymphedema syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75566</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0265345</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Lymphedema-distichiasis syndrome (referred to as LDS in this GeneReview) is characterized by lower-limb lymphedema, and distichiasis (aberrant eyelashes ranging from a full set of extra eyelashes to a single hair). Lymphedema typically appears in late childhood or puberty, is confined to the lower limbs with or without involvement of the external genitalia, and is often asymmetric; severity varies within families. Males develop edema at an earlier age and have more problems with cellulitis than females. Distichiasis, which may be present at birth, is observed in 94% of affected individuals. About 75% of affected individuals have ocular findings including corneal irritation, recurrent conjunctivitis, and photophobia; other common findings include varicose veins and ptosis.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/75566">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_83338"><div><strong>Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83338</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342287</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Thiamine-responsive megaloblastic anemia syndrome (TRMA) is characterized by megaloblastic anemia, progressive sensorineural hearing loss, and diabetes mellitus. Onset of megaloblastic anemia occurs between infancy and adolescence. The anemia is corrected with thiamine treatment, but the red cells remain macrocytic and anemia can recur if treatment is withdrawn. Progressive sensorineural hearing loss often occurs early and can be detected in toddlers; hearing loss is irreversible and may not be prevented by thiamine treatment. The diabetes mellitus is non-type I in nature, with age of onset from infancy to adolescence. Thiamine treatment may reduce insulin requirement and delay onset of diabetes in some individuals.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/83338">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_98048"><div><strong>Emery-Dreifuss muscular dystrophy 2, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98048</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0410190</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest as palpitations, presyncope and syncope, poor exercise tolerance, and congestive heart failure along with variable cardiac rhythm disturbances. Age of onset, severity, and progression of muscle and cardiac involvement demonstrate both inter- and intrafamilial variability. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. Cardiac involvement usually occurs after the second decade and respiratory function may be impaired in some individuals.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/98048">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_107893"><div><strong>3-Methylglutaconic aciduria type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107893</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0574083</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Barth syndrome is characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial gestalt (most evident in infancy); not all features may be present in a given affected male. Cardiomyopathy, which is almost always present before age five years, is typically dilated cardiomyopathy with or without endocardial fibroelastosis or left ventricular noncompaction; hypertrophic cardiomyopathy can also occur. Heart failure is a significant cause of morbidity and mortality; risk of arrhythmia and sudden death is increased. Neutropenia is most often associated with mouth ulcers, pneumonia, and sepsis. The nonprogressive myopathy predominantly affects the proximal muscles, and results in early motor delays. Prepubertal growth delay is followed by a postpubertal growth spurt with remarkable "catch-up" growth. Heterozygous females who have a normal karyotype are asymptomatic and have normal biochemical studies.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/107893">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_108454"><div><strong>Costello syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108454</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0587248</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">While the majority of individuals with HRAS-related Costello syndrome (Costello syndrome) share characteristic findings affecting multiple organ systems, the phenotypic spectrum is wide, ranging from a mild or attenuated phenotype to a severe phenotype with early-lethal complications. Costello syndrome is typically characterized by failure to thrive in infancy as a result of severe postnatal feeding difficulties; short stature; developmental delay or intellectual disability; coarse facial features (full lips, large mouth, full nasal tip); curly or sparse, fine hair; loose, soft skin with deep palmar and plantar creases; papillomata of the face and perianal region; diffuse hypotonia and joint laxity with ulnar deviation of the wrists and fingers; tight Achilles tendons; and cardiac involvement including cardiac hypertrophy (usually hypertrophic cardiomyopathy), congenital heart defects (usually valvular pulmonic stenosis), and arrhythmia (usually supraventricular tachycardia, especially abnormal atrial rhythm / multifocal atrial tachycardia or ectopic atrial tachycardia). Relative or absolute macrocephaly is typical, and postnatal cerebellar overgrowth can result in the development of a Chiari I malformation with associated anomalies including hydrocephalus or syringomyelia. Individuals with Costello syndrome have an approximately 15% lifetime risk for malignant tumors including rhabdomyosarcoma and neuroblastoma in young children and transitional cell carcinoma of the bladder in adolescents and young adults.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/108454">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_155487"><div><strong>Cockayne syndrome type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155487</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0751038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth (this form overlaps with cerebrooculofacioskeletal [COFS] syndrome); CS type III, a milder and later-onset form; and COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/155487">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_155488"><div><strong>Cockayne syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155488</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0751039</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth (this form overlaps with cerebrooculofacioskeletal [COFS] syndrome); CS type III, a milder and later-onset form; and COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155488">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_163210"><div><strong>Linear skin defects with multiple congenital anomalies 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163210</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0796070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microphthalmia with linear skin defects (MLS) syndrome is characterized by unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects, usually involving the face and neck, which are present at birth and heal with age, leaving minimal residual scarring. Other findings can include a wide variety of other ocular abnormalities (e.g., corneal anomalies, orbital cysts, cataracts), central nervous system involvement (e.g., structural anomalies, developmental delay, infantile seizures), cardiac concerns (e.g., hypertrophic or oncocytic cardiomyopathy, atrial or ventricular septal defects, arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, hearing impairment, and genitourinary malformations. Inter- and intrafamilial variability is described.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163210">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162917"><div><strong>Simpson-Golabi-Behmel syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162917</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0796154</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palate abnormalities); and, commonly, mild-to-severe intellectual disability with or without structural brain anomalies. Other variable findings include supernumerary nipples, diastasis recti / umbilical hernia, congenital heart defects, diaphragmatic hernia, genitourinary defects, and gastrointestinal issues. Skeletal anomalies can include vertebral fusion, scoliosis, rib anomalies, and congenital hip dislocation. Hand anomalies can include large hands and postaxial polydactyly. Affected individuals are at increased risk for embryonal tumors including Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma, hepatocellular carcinoma, and medulloblastoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162917">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_167236"><div><strong>Oculodentodigital dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167236</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0812437</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">Oculodentodigital dysplasia (ODDD) is characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding (summary by Judisch et al., 1979). Neurologic abnormalities are sometimes associated (Gutmann et al., 1991), and lymphedema has been reported in some patients with ODDD (Brice et al., 2013). See review by De Bock et al. (2013). Genetic Heterogeneity of Oculodentodigital Syndrome An autosomal recessive form of ODDD (257850) is also caused by mutation in the GJA1 gene, but the majority of cases are autosomal dominant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167236">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_182959"><div><strong>Becker muscular dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>182959</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0917713</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated DCM when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed motor milestones including delays in walking independently and standing up from a supine position. Proximal weakness causes a waddling gait and difficulty climbing stairs, running, jumping, and standing up from a squatting position. DMD is rapidly progressive, with affected children being wheelchair dependent by age 12 years. Cardiomyopathy occurs in almost all individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and progressive cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness. With improved diagnostic techniques, it has been recognized that the mild end of the spectrum includes men with onset of symptoms after age 30 years who remain ambulatory even into their 60s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilatation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/182959">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_182973"><div><strong>Leber optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>182973</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0917796</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Leber hereditary optic neuropathy (LHON) typically presents in young adults as bilateral, painless, subacute visual failure. The peak age of onset in LHON is in the second and third decades of life, with 90% of those who lose their vision doing so before age 50 years. Very rarely, individuals first manifest LHON in the seventh and eighth decades of life. Males are four to five times more likely to be affected than females, but neither sex nor mutational status significantly influences the timing and severity of the initial visual loss. Neurologic abnormalities such as postural tremor, peripheral neuropathy, nonspecific myopathy, and movement disorders have been reported to be more common in individuals with LHON than in the general population. Some individuals with LHON, usually women, may also develop a multiple sclerosis-like illness.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/182973">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_316820"><div><strong>Carnitine palmitoyl transferase 1A deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>316820</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1829703</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a disorder of long-chain fatty acid oxidation. Clinical manifestations usually occur in an individual with a concurrent febrile or gastrointestinal illness when energy demands are increased; onset of manifestations are usually rapid. The recognized presentations are: (1) out-of-range newborn screen (individual may be without features or with hepatic encephalopathy, hypoketotic hypoglycemia, and sudden onset of liver failure) and (2) later-onset manifestations (in the absence of newborn screening), including hepatic encephalopathy, hypoglycemia, absent or low levels of ketones, and elevated serum concentrations of liver transaminases, ammonia, and creatine kinase. Between episodes of hepatic encephalopathy, individuals appear developmentally and cognitively normal unless previous metabolic decompensation has resulted in neurologic damage. Acute fatty liver of pregnancy, in which the fetus has biallelic pathogenic variants in CPT1A, has been rarely associated with CPT1A deficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/316820">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_321991"><div><strong>Naxos disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>321991</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832600</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Naxos disease (NXD) is characterized by arrhythmogenic right ventricular cardiomyopathy associated with abnormalities of the skin, hair, and nails. The ectodermal features are evident from birth or early childhood, whereas the cardiac symptoms develop in young adulthood or later. Clinical variability of ectodermal features has been observed, with hair anomalies ranging from woolly hair to alopecia, and skin abnormalities ranging from mild focal palmoplantar keratoderma to generalized skin fragility or even lethal neonatal epidermolysis bullosa (Protonotarios et al., 1986; Cabral et al., 2010; Pigors et al., 2011; Erken et al., 2011; Sen-Chowdhry and McKenna, 2014). Another syndrome involving cardiomyopathy, woolly hair, and keratoderma (DCWHK; 605676) is caused by mutation in the desmoplakin gene (DSP; 125647). Also see 610476 for a similar disorder caused by homozygous mutation in the DSC2 gene (125645).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/321991">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_318896"><div><strong>Carnitine palmitoyl transferase II deficiency, neonatal form</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318896</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1833518</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318896">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373087"><div><strong>Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373087</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640). PEO caused by mutations in the POLG gene (174763) is associated with more complicated phenotypes than PEO caused by mutations in the SLC25A4 (103220) or C10ORF2 genes (Lamantea et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373087">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340044"><div><strong>Hemochromatosis type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340044</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853733</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hemochromatosis type 4 (HFE4) is a dominantly inherited iron overload disorder with heterogeneous phenotypic manifestations that can be classified into 2 groups. One group is characterized by an early rise in ferritin (see 134790) levels with low to normal transferrin (190000) saturation and iron accumulation predominantly in macrophages. The other group is similar to classical hemochromatosis, with high transferrin saturation and prominent parenchymal iron loading (summary by De Domenico et al., 2005). For general background information and a discussion of genetic heterogeneity of hereditary hemochromatosis, see 235200.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340044">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340816"><div><strong>Spondylometaphyseal dysplasia, Sedaghatian type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340816</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855229</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sedaghatian-type spondylometaphyseal dysplasia (SMDS) is a rare lethal disorder characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary hemorrhage. Affected infants present with severe hypotonia and cardiorespiratory problems; most die within days of birth due to respiratory failure. Cardiac abnormalities include conduction defects, complete heart block, and structural anomalies. Half of infants with SMDS are reported to have central nervous system malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia (summary by Smith et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340816">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400145"><div><strong>Spondyloarthropathy, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400145</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1862852</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondyloarthropathy (SpA), one of the commonest chronic rheumatic diseases, includes a spectrum of related disorders comprising the prototype ankylosing spondylitis (AS), a subset of psoriatic arthritis (PsA), reactive arthritis (ReA), arthritis associated with inflammatory bowel disease, and undifferentiated spondyloarthropathy (Miceli-Richard et al., 2004). These phenotypes are difficult to differentiate because they may occur simultaneously or sequentially in the same patient. Studies have suggested that a predominant shared component, including HLA-B27, predisposes to all phenotypic subsets, and that these subsets should be considered as various phenotypic expressions of the same disease (Said-Nahal et al., 2000, Said-Nahal et al., 2001). Braun and Sieper (2007) provided a detailed review of ankylosing spondylitis, including clinical features, pathogenesis, and management. Genetic Heterogeneity of Susceptibility to Spondyloarthropathy Additional susceptibility loci for spondyloarthropathy have been identified on chromosome 9q31-q34 (SPDA2; 183840) and chromosome 2q36 (SPDA3; 613238).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400145">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350480"><div><strong>Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350480</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1864668</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive external ophthalmoplegia-4 (PEOA4) is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by Young et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350480">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356321"><div><strong>Hemochromatosis type 2A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356321</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1865614</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Juvenile hemochromatosis is characterized by onset of severe iron overload occurring typically in the first to third decades of life. Males and females are equally affected. Prominent clinical features include hypogonadotropic hypogonadism, cardiomyopathy, glucose intolerance and diabetes, arthropathy, and liver fibrosis or cirrhosis. Hepatocellular cancer has been reported occasionally. The main cause of death is cardiac disease. If juvenile hemochromatosis is detected early enough and if blood is removed regularly through the process of phlebotomy to achieve iron depletion, morbidity and mortality are greatly reduced.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356321">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_357886"><div><strong>Ulnar-mammary syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357886</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1866994</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/357886">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_370589"><div><strong>Noonan syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370589</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1969057</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370589">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370665"><div><strong>Mitochondrial trifunctional protein deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370665</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1969443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and trifunctional protein (TFP) deficiency are caused by impairment of mitochondrial TFP. TFP has three enzymatic activities – long-chain enoyl-CoA hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase, and long-chain 3-ketoacyl-CoA thiolase. In individuals with LCHAD deficiency, there is isolated deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase, while deficiency of all three enzymes occurs in individuals with TFP deficiency. Individuals with TFP deficiency can present with a severe-to-mild phenotype, while individuals with LCHAD deficiency typically present with a severe-to-intermediate phenotype. Neonates with the severe phenotype present within a few days of birth with hypoglycemia, hepatomegaly, encephalopathy, and often cardiomyopathy. The intermediate phenotype is characterized by hypoketotic hypoglycemia precipitated by infection or fasting in infancy. The mild (late-onset) phenotype is characterized by myopathy and/or neuropathy. Long-term complications include peripheral neuropathy and retinopathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370665">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370220"><div><strong>Progressive familial heart block type IB</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370220</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1970298</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive familial heart block can be divided into type I and type II, with type I being further divided into types IA and IB. These types differ in where in the heart signaling is interrupted and the genetic cause. In types IA and IB, the heart block originates in the bundle branch, and in type II, the heart block originates in the atrioventricular node. The different types of progressive familial heart block have similar signs and symptoms.\n\nHeart block occurs when the electrical signaling is obstructed anywhere from the atria to the ventricles. In people with progressive familial heart block, the condition worsens over time: early in the disorder, the electrical signals are partially blocked, but the block eventually becomes complete, preventing any signals from passing through the heart. Partial heart block causes a slow or irregular heartbeat (bradycardia or arrhythmia, respectively), and can lead to the buildup of scar tissue (fibrosis) in the cells that carry electrical impulses. Fibrosis contributes to the development of complete heart block, resulting in uncoordinated electrical signaling between the atria and the ventricles and inefficient pumping of blood in the heart. Complete heart block can cause a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, fainting (syncope), or sudden cardiac arrest and death.\n\nMost cases of heart block are not genetic and are not considered progressive familial heart block. The most common cause of heart block is fibrosis of the heart, which occurs as a normal process of aging. Other causes of heart block can include the use of certain medications or an infection of the heart tissue.\n\nProgressive familial heart block is a genetic condition that alters the normal beating of the heart. A normal heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. These signals begin in a specialized cluster of cells called the sinoatrial node (the heart's natural pacemaker) located in the heart's upper chambers (the atria). From there, a group of cells called the atrioventricular node carries the electrical signals to another cluster of cells called the bundle of His. This bundle separates into multiple thin spindles called bundle branches, which carry electrical signals into the heart's lower chambers (the ventricles). Electrical impulses move from the sinoatrial node down to the bundle branches, stimulating a normal heartbeat in which the ventricles contract slightly later than the atria.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370220">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_435983"><div><strong>Early-onset myopathy with fatal cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>435983</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2673677</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Salih myopathy is characterized by muscle weakness (manifest during the neonatal period or in early infancy) and delayed motor development; children acquire independent walking between ages 20 months and four years. In the first decade of life, global motor performance is stable or tends to improve. Moderate joint and neck contractures and spinal rigidity may manifest in the first decade but become more obvious in the second decade. Scoliosis develops after age 11 years. Cardiac dysfunction manifests between ages five and 16 years, progresses rapidly, and leads to death between ages eight and 20 years, usually from heart rhythm disturbances.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/435983">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395525"><div><strong>X-linked myopathy with postural muscle atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395525</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2678055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest as palpitations, presyncope and syncope, poor exercise tolerance, and congestive heart failure along with variable cardiac rhythm disturbances. Age of onset, severity, and progression of muscle and cardiac involvement demonstrate both inter- and intrafamilial variability. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. Cardiac involvement usually occurs after the second decade and respiratory function may be impaired in some individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395525">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413212"><div><strong>Emery-Dreifuss muscular dystrophy 3, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413212</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2750035</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by Jimenez-Escrig et al., 2012). For a discussion of genetic heterogeneity of EDMD, see 310300.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413212">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414111"><div><strong>Emery-Dreifuss muscular dystrophy 5, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414111</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2751805</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414111">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_443944"><div><strong>Odontotrichomelic syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>443944</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2930960</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic disease characterized by intellectual disability, growth delay, absence deformities of upper and lower limbs, hypotrichosis, hypoplastic nails, abnormal dentition, abnormal auricles, hypoplastic nipples, thyroid enlargement, and abnormalities of tyrosine and/or tryptophane metabolism. Hypogonadism and cleft lip have also been reported. No new cases have been confirmed since 1970.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/443944">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419169"><div><strong>Chromosome 2q37 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419169</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Patients with chromosome 2q37 deletion syndrome show highly variable clinical manifestations likely resulting from different deletion sizes and deletions of different genes. Variable clinical features included brachydactyly type E (BDE), affecting the metacarpals and metatarsals (in about 50% of patients), short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features. However, many individuals with deletions do not show cognitive deficits (summary by Villavicencio-Lorini et al., 2013, Wheeler et al., 2014, Jean-Marcais et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419169">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_477078"><div><strong>Ogden syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477078</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3275447</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/477078">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481329"><div><strong>Mitochondrial complex V (ATP synthase) deficiency nuclear type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481329</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3279699</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial encephalo-cardio-myopathy due to <i>TMEM70</i> mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481329">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854011"><div><strong>Hemochromatosis type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854011</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3469186</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">HFE-related hemochromatosis (HFE HC) is characterized by increased intestinal iron absorption and increased recycling of iron derived from senescent red blood cells. The phenotypic spectrum of HFE HC includes clinical HFE HC (increased serum ferritin and transferrin saturation and end-organ damage secondary to iron overload), biochemical HFE HC (increased serum ferritin and transferrin saturation without end-organ damage), and non-penetrant HFE HC (neither clinical manifestations of HFE HC nor iron overload are present, although elevated transferrin saturation may occur). Clinical HFE HC is characterized by excessive iron in the liver, pancreas, heart, skin, joints, and anterior pituitary gland. In untreated individuals, early manifestations include weakness, chronic fatigue, abdominal pain, weight loss, arthralgias, and diabetes mellitus. Individuals with HFE HC have an increased risk of cirrhosis when their serum ferritin is higher than 1,000 µg/L. Other findings of severe iron overload include hypogonadism, congestive heart failure, arrhythmias, and progressive increase in skin pigmentation. Clinical HFE HC is more common in males than females.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854011">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_501195"><div><strong>Hypertrophic cardiomyopathy 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501195</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3495498</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypertrophic cardiomyopathy (HCM) is typically defined by the presence of unexplained left ventricular hypertrophy (LVH). Such LVH occurs in a non-dilated ventricle in the absence of other cardiac or systemic disease capable of producing the observed magnitude of increased LV wall thickness, such as pressure overload (e.g., long-standing hypertension, aortic stenosis) or storage/infiltrative disorders (e.g., Fabry disease, amyloidosis). The clinical manifestations of HCM range from asymptomatic LVH to progressive heart failure to sudden cardiac death (SCD), and vary from individual to individual even within the same family. Common symptoms include shortness of breath (particularly with exertion), chest pain, palpitations, orthostasis, presyncope, and syncope. Most often the LVH of HCM becomes apparent during adolescence or young adulthood, although it may also develop late in life, in infancy, or in childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/501195">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_761274"><div><strong>Dystonia 23</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761274</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3538999</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic isolated dystonia with characteristics of adult-onset non-progressive focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/761274">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767376"><div><strong>Mitochondrial DNA depletion syndrome 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767376</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3554462</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial DNA depletion syndrome-11 is an autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities (summary by Kornblum et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767376">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815618"><div><strong>Left ventricular noncompaction 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815618</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3809288</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Some individuals with left ventricular noncompaction experience no symptoms at all; others have heart problems that can include sudden cardiac death. Additional signs and symptoms include abnormal blood clots, irregular heart rhythm (arrhythmia), a sensation of fluttering or pounding in the chest (palpitations), extreme fatigue during exercise (exercise intolerance), shortness of breath (dyspnea), fainting (syncope), swelling of the legs (lymphedema), and trouble laying down flat. Some affected individuals have features of other heart defects. Left ventricular noncompaction can be diagnosed at any age, from birth to late adulthood. Approximately two-thirds of individuals with left ventricular noncompaction develop heart failure.\n\nLeft ventricular noncompaction is a heart (cardiac) muscle disorder that occurs when the lower left chamber of the heart (left ventricle), which helps the heart pump blood, does not develop correctly. Instead of the muscle being smooth and firm, the cardiac muscle in the left ventricle is thick and appears spongy. The abnormal cardiac muscle is weak and has an impaired ability to pump blood because it either cannot completely contract or it cannot completely relax. For the heart to pump blood normally, cardiac muscle must contract and relax fully.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815618">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815922"><div><strong>Mitochondrial DNA depletion syndrome 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815922</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3809592</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">FBXL4-related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is a multi-system disorder characterized primarily by congenital or early-onset lactic acidosis and growth failure, feeding difficulty, hypotonia, and developmental delay. Other neurologic manifestations can include seizures, movement disorders, ataxia, autonomic dysfunction, and stroke-like episodes. All affected individuals alive at the time they were reported (median age: 3.5 years) demonstrated significant developmental delay. Other findings can involve the heart (hypertrophic cardiomyopathy, congenital heart malformations, arrhythmias), liver (mildly elevated transaminases), eyes (cataract, strabismus, nystagmus, optic atrophy), hearing (sensorineural hearing loss), and bone marrow (neutropenia, lymphopenia). Survival varies; the median age of reported deaths was two years (range 2 days – 75 months), although surviving individuals as old as 36 years have been reported. To date FBXL4-related mtDNA depletion syndrome has been reported in 50 individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815922">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_907372"><div><strong>Singleton-Merten syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>907372</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225380</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015). For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (182250).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/907372">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648310"><div><strong>Proteasome-associated autoinflammatory syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648310</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4746851</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Proteasome-associated autoinflammatory syndrome-1 (PRAAS1) is an autosomal recessive disorder characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011). This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory Syndrome See also PRAAS2 (618048), caused by mutation in the POMP gene (613386) on chromosome 13q12; PRAAS3 (617591), caused by mutation in the PSMB4 gene (602177) on chromosome 1q21; PRAAS4 (619183), caused by mutation in the PSMG2 gene (609702) on chromosome 18p11; PRAAS5 (619175), caused by mutation in the PSMB10 gene (176847) on chromosome 16q22; and PRAAS6 (620796), caused by mutation in the PSMB9 gene (177045) on chromosome 6p21.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648310">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648331"><div><strong>Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648331</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748184</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648331">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1667331"><div><strong>Spinocerebellar ataxia, autosomal recessive 23</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1667331</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4750914</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive spinocerebellar ataxia-23 is a neurologic disorder characterized by epilepsy, intellectual disability, and gait ataxia (summary by Gomez-Herreros et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1667331">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1680968"><div><strong>Intellectual developmental disorder with short stature and variable skeletal anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1680968</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5193105</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1680968">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1681026"><div><strong>Erythrokeratodermia variabilis et progressiva 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1681026</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5193144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">EKVP6 is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces. Intrafamilial variation in severity has been observed, and most affected individuals experience slowly progressive spontaneous remission after puberty (Wang et al., 2019). For a general phenotypic description and discussion of genetic heterogeneity of EKVP, see EKVP1 (133200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1681026">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1778119"><div><strong>Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778119</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5542952</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1778119">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1782253"><div><strong>Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1782253</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5543057</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies-2 (SSFSC2) is characterized by thin and short long bones, distinctive facial dysmorphism, and dental and skeletal abnormalities, in the absence of developmental delay or intellectual disability. Cardiac anomalies have been reported in some patients (Lin et al., 2021). For a discussion of genetic heterogeneity of SSFSC, see SSFSC1 (617877).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1782253">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1799166"><div><strong>Combined oxidative phosphorylation defect type 23</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1799166</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5567743</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-23 (COXPD23) is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1799166">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824070"><div><strong>Spinocerebellar ataxia, autosomal recessive 33</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824070</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774297</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Autosomal recessive spinocerebellar ataxia-33 (SCAR33) is a neurologic disorder characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria. Some patients have seizures and/or learning difficulties. Brain imaging shows cerebellar hypoplasia (Elsaid et al., 2017).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824070">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1854360"><div><strong>Jeffries-Lakhani neurodevelopmental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854360</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5935596</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Jeffries-Lakhani neurodevelopmental syndrome (JELANS) is an autosomal recessive disorder characterized by hypotonia, early-onset seizures, and global developmental delay apparent from infancy. Affected individuals have motor delay, speech delay, and impaired intellectual development, and about half of patients are nonambulatory and/or nonverbal. Some patients have cardiac arrhythmia, but congenital cardiac septal defects are only rarely observed. Additional features may include feeding difficulties, recurrent infections, ocular defects, and nonspecific dysmorphic features. Premature death due to cardiac arrhythmia or epilepsy may occur (Jeffries et al., 2024).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1854360">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_107893" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3-Methylglutaconic aciduria type 2</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_182959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Becker muscular dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_316820" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carnitine palmitoyl transferase 1A deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318896" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carnitine palmitoyl transferase II deficiency, neonatal form</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_113102" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract 46 juvenile-onset</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (57)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 2q37 deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155488" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cockayne syndrome type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155487" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cockayne syndrome type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1799166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation defect type 23</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78114" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Conduction disorder of the heart</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_108454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Costello syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distichiasis-lymphedema syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_3925" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Duchenne muscular dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_761274" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 23</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_435983" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Early-onset myopathy with fatal cardiomyopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emery-Dreifuss muscular dystrophy 2, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413212" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emery-Dreifuss muscular dystrophy 3, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emery-Dreifuss muscular dystrophy 5, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1681026" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Erythrokeratodermia variabilis et progressiva 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_8083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fabry disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854011" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemochromatosis type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356321" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemochromatosis type 2A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemochromatosis type 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501195" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1680968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder with short stature and variable skeletal anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jeffries-Lakhani neurodevelopmental syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kearns-Sayre syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_182973" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leber optic atrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Left ventricular noncompaction 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163210" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Linear skin defects with multiple congenital anomalies 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83338" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_56485" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MELAS syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481329" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex V (ATP synthase) deficiency nuclear type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767376" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815922" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 13</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370665" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial trifunctional protein deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_321991" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Naxos disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370589" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_167236" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculodentodigital dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_443944" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Odontotrichomelic syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ogden syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_11161" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Phytanic acid storage disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373087" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350480" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648331" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370220" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive familial heart block type IB</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteasome-associated autoinflammatory syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1778119" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1782253" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Simpson-Golabi-Behmel syndrome type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_907372" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Singleton-Merten syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1667331" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia, autosomal recessive 23</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia, autosomal recessive 33</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloarthropathy, susceptibility to, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340816" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylometaphyseal dysplasia, Sedaghatian type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357886" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ulnar-mammary syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395525" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked myopathy with postural muscle atrophy</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38587017">2024 European Heart Rhythm Association/Heart Rhythm Society/Asia Pacific Heart Rhythm Society/Latin American Heart Rhythm Society expert consensus statement on catheter and surgical ablation of atrial fibrillation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tzeis S,
|
||
Gerstenfeld EP,
|
||
Kalman J,
|
||
Saad EB,
|
||
Sepehri Shamloo A,
|
||
Andrade JG,
|
||
Barbhaiya CR,
|
||
Baykaner T,
|
||
Boveda S,
|
||
Calkins H,
|
||
Chan NY,
|
||
Chen M,
|
||
Chen SA,
|
||
Dagres N,
|
||
Damiano RJ,
|
||
De Potter T,
|
||
Deisenhofer I,
|
||
Derval N,
|
||
Di Biase L,
|
||
Duytschaever M,
|
||
Dyrda K,
|
||
Hindricks G,
|
||
Hocini M,
|
||
Kim YH,
|
||
la Meir M,
|
||
Merino JL,
|
||
Michaud GF,
|
||
Natale A,
|
||
Nault I,
|
||
Nava S,
|
||
Nitta T,
|
||
O'Neill M,
|
||
Pak HN,
|
||
Piccini JP,
|
||
Pürerfellner H,
|
||
Reichlin T,
|
||
Saenz LC,
|
||
Sanders P,
|
||
Schilling R,
|
||
Schmidt B,
|
||
Supple GE,
|
||
Thomas KL,
|
||
Tondo C,
|
||
Verma A,
|
||
Wan EY,
|
||
Steven D,
|
||
Agbayani MJ,
|
||
Jared Bunch T,
|
||
Chugh A,
|
||
Díaz JC,
|
||
Freeman JV,
|
||
Hardy CA,
|
||
Heidbuchel H,
|
||
Johar S,
|
||
Linz D,
|
||
Maesen B,
|
||
Noseworthy PA,
|
||
Oh S,
|
||
Porta-Sanchez A,
|
||
Potpara T,
|
||
Rodriguez-Diez G,
|
||
Sacher F,
|
||
Suwalski P,
|
||
Trines SA</span><br />
|
||
<span class="medgenPMjournal">Europace</span>
|
||
2024 Mar 30;26(4)
|
||
doi: 10.1093/europace/euae043.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38587017" target="_blank">38587017</a><a href="/pmc/articles/PMC11000153" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34332662">Electrical storm: Prognosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elsokkari I,
|
||
Sapp JL</span><br />
|
||
<span class="medgenPMjournal">Prog Cardiovasc Dis</span>
|
||
2021 May-Jun;66:70-79.
|
||
doi: 10.1016/j.pcad.2021.06.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34332662" target="_blank">34332662</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32872726">Nutritional management in patients with chronic kidney disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim SM,
|
||
Jung JY</span><br />
|
||
<span class="medgenPMjournal">Korean J Intern Med</span>
|
||
2020 Nov;35(6):1279-1290.
|
||
Epub 2020 Sep 23
|
||
doi: 10.3904/kjim.2020.408.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32872726" target="_blank">32872726</a><a href="/pmc/articles/PMC7652660" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cardiac%20arrhythmia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (366)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37002802">Sarcopenia and cardiovascular diseases: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zuo X,
|
||
Li X,
|
||
Tang K,
|
||
Zhao R,
|
||
Wu M,
|
||
Wang Y,
|
||
Li T</span><br />
|
||
<span class="medgenPMjournal">J Cachexia Sarcopenia Muscle</span>
|
||
2023 Jun;14(3):1183-1198.
|
||
Epub 2023 Apr 1
|
||
doi: 10.1002/jcsm.13221.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37002802" target="_blank">37002802</a><a href="/pmc/articles/PMC10235887" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35568135">Aldehyde dehydrogenase 2 and arrhythmogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jin J,
|
||
Chen J,
|
||
Wang Y</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2022 Sep;19(9):1541-1547.
|
||
Epub 2022 May 12
|
||
doi: 10.1016/j.hrthm.2022.05.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35568135" target="_blank">35568135</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33896524">Acute Dizziness, Vertigo, and Unsteadiness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Voetsch B,
|
||
Sehgal S</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2021 May;39(2):373-389.
|
||
Epub 2021 Mar 30
|
||
doi: 10.1016/j.ncl.2021.01.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33896524" target="_blank">33896524</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32771194">Epicardial Ablation Complications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tarantino N,
|
||
Della Rocca DG,
|
||
Faggioni M,
|
||
Zhang XD,
|
||
Mohanty S,
|
||
Anannab A,
|
||
Canpolat U,
|
||
Ayhan H,
|
||
Bassiouny M,
|
||
Sahore A,
|
||
Aytemir K,
|
||
Sarcon A,
|
||
Forleo GB,
|
||
Lavalle C,
|
||
Horton RP,
|
||
Trivedi C,
|
||
Al-Ahmad A,
|
||
Romero J,
|
||
Burkhardt DJ,
|
||
Gallinghouse JG,
|
||
Di Biase L,
|
||
Natale A</span><br />
|
||
<span class="medgenPMjournal">Card Electrophysiol Clin</span>
|
||
2020 Sep;12(3):409-418.
|
||
doi: 10.1016/j.ccep.2020.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32771194" target="_blank">32771194</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31378326">When Is Syncope Arrhythmic?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martow E,
|
||
Sandhu R</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
2019 Sep;103(5):793-807.
|
||
Epub 2019 Jun 26
|
||
doi: 10.1016/j.mcna.2019.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31378326" target="_blank">31378326</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiac%20arrhythmia%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4163)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37775166">Atrial fibrillation: a contemporary update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saleh K,
|
||
Haldar S</span><br />
|
||
<span class="medgenPMjournal">Clin Med (Lond)</span>
|
||
2023 Sep;23(5):437-441.
|
||
Epub 2023 Sep 29
|
||
doi: 10.7861/clinmed.2023-23.5.Cardio2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37775166" target="_blank">37775166</a><a href="/pmc/articles/PMC10541273" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37321686">Sinus Node Dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sathnur N,
|
||
Ebin E,
|
||
Benditt DG</span><br />
|
||
<span class="medgenPMjournal">Cardiol Clin</span>
|
||
2023 Aug;41(3):349-367.
|
||
doi: 10.1016/j.ccl.2023.03.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37321686" target="_blank">37321686</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34689892">Sinus Node Dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sathnur N,
|
||
Ebin E,
|
||
Benditt DG</span><br />
|
||
<span class="medgenPMjournal">Card Electrophysiol Clin</span>
|
||
2021 Dec;13(4):641-659.
|
||
Epub 2021 Sep 23
|
||
doi: 10.1016/j.ccep.2021.06.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34689892" target="_blank">34689892</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31378326">When Is Syncope Arrhythmic?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martow E,
|
||
Sandhu R</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
2019 Sep;103(5):793-807.
|
||
Epub 2019 Jun 26
|
||
doi: 10.1016/j.mcna.2019.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31378326" target="_blank">31378326</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25737133">Cardiac Arrhythmias: Diagnosis, Symptoms, and Treatments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fu DG</span><br />
|
||
<span class="medgenPMjournal">Cell Biochem Biophys</span>
|
||
2015 Nov;73(2):291-296.
|
||
doi: 10.1007/s12013-015-0626-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25737133" target="_blank">25737133</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiac%20arrhythmia%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2941)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32049269">Effect of Reduced Exposure to Vasopressors on 90-Day Mortality in Older Critically Ill Patients With Vasodilatory Hypotension: A Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lamontagne F,
|
||
Richards-Belle A,
|
||
Thomas K,
|
||
Harrison DA,
|
||
Sadique MZ,
|
||
Grieve RD,
|
||
Camsooksai J,
|
||
Darnell R,
|
||
Gordon AC,
|
||
Henry D,
|
||
Hudson N,
|
||
Mason AJ,
|
||
Saull M,
|
||
Whitman C,
|
||
Young JD,
|
||
Rowan KM,
|
||
Mouncey PR;
|
||
65 trial investigators</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2020 Mar 10;323(10):938-949.
|
||
doi: 10.1001/jama.2020.0930.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32049269" target="_blank">32049269</a><a href="/pmc/articles/PMC7064880" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28818530">Recent developments in clinical trials of botulinum neurotoxins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cocco A,
|
||
Albanese A</span><br />
|
||
<span class="medgenPMjournal">Toxicon</span>
|
||
2018 Jun 1;147:77-83.
|
||
Epub 2017 Aug 14
|
||
doi: 10.1016/j.toxicon.2017.08.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28818530" target="_blank">28818530</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28181684">Exercise-based cardiac rehabilitation for adults with atrial fibrillation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Risom SS,
|
||
Zwisler AD,
|
||
Johansen PP,
|
||
Sibilitz KL,
|
||
Lindschou J,
|
||
Gluud C,
|
||
Taylor RS,
|
||
Svendsen JH,
|
||
Berg SK</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2017 Feb 9;2(2):CD011197.
|
||
doi: 10.1002/14651858.CD011197.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28181684" target="_blank">28181684</a><a href="/pmc/articles/PMC6464537" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26002889">Air Versus Oxygen in ST-Segment-Elevation Myocardial Infarction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stub D,
|
||
Smith K,
|
||
Bernard S,
|
||
Nehme Z,
|
||
Stephenson M,
|
||
Bray JE,
|
||
Cameron P,
|
||
Barger B,
|
||
Ellims AH,
|
||
Taylor AJ,
|
||
Meredith IT,
|
||
Kaye DM;
|
||
AVOID Investigators</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2015 Jun 16;131(24):2143-50.
|
||
Epub 2015 May 22
|
||
doi: 10.1161/CIRCULATIONAHA.114.014494.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26002889" target="_blank">26002889</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19739042">New anticoagulants for atrial fibrillation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sobieraj-Teague M,
|
||
O'Donnell M,
|
||
Eikelboom J</span><br />
|
||
<span class="medgenPMjournal">Semin Thromb Hemost</span>
|
||
2009 Jul;35(5):515-24.
|
||
Epub 2009 Sep 8
|
||
doi: 10.1055/s-0029-1234147.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19739042" target="_blank">19739042</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiac%20arrhythmia%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3161)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36514212">Omega-3 fatty acids and atrial fibrillation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Huh JH,
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Jo SH</span><br />
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<span class="medgenPMjournal">Korean J Intern Med</span>
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2023 May;38(3):282-289.
|
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Epub 2022 Dec 14
|
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doi: 10.3904/kjim.2022.266.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36514212" target="_blank">36514212</a><a href="/pmc/articles/PMC10175873" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34853850">COVID-19 Legacy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ladani AP,
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Loganathan M,
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Kolikonda MK,
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<span class="medgenPMjournal">South Med J</span>
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|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/31800080">Hyperkalemia: pathophysiology, risk factors and consequences.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hunter RW,
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Bailey MA</span><br />
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<span class="medgenPMjournal">Nephrol Dial Transplant</span>
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2019 Dec 1;34(Suppl 3):iii2-iii11.
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doi: 10.1093/ndt/gfz206.
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<span class="bold">PMID: </span><a href="/pubmed/31800080" target="_blank">31800080</a><a href="/pmc/articles/PMC6892421" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31352857">Beta-blockers in asthma: myth and reality.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Tiotiu A,
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Novakova P,
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Kowal K,
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Chong-Neto H,
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Novakova S,
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Labor M</span><br />
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<span class="medgenPMjournal">Expert Rev Respir Med</span>
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2019 Sep;13(9):815-822.
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Epub 2019 Aug 2
|
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doi: 10.1080/17476348.2019.1649147.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31352857" target="_blank">31352857</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30105429">His bundle pacing.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Payne J,
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Garlitski AC,
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Weinstock J,
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Homoud M,
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Madias C,
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Estes NAM</span><br />
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<span class="medgenPMjournal">J Interv Card Electrophysiol</span>
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2018 Aug;52(3):323-334.
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Epub 2018 Aug 13
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doi: 10.1007/s10840-018-0412-5.
|
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<span class="bold">PMID: </span><a href="/pubmed/30105429" target="_blank">30105429</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiac%20arrhythmia%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2237)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34448706">Diagnostic Accuracy of Smartwatches for the Detection of Cardiac Arrhythmia: Systematic Review and Meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nazarian S,
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Lam K,
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Darzi A,
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Ashrafian H</span><br />
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<span class="medgenPMjournal">J Med Internet Res</span>
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2021 Aug 27;23(8):e28974.
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doi: 10.2196/28974.
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<span class="bold">PMID: </span><a href="/pubmed/34448706" target="_blank">34448706</a><a href="/pmc/articles/PMC8433941" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33516395">Exercise and Athletic Activity in Atrial Fibrillation.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Kherlopian A,
|
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Weinshel S,
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Madias C,
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Estes NAM 3rd</span><br />
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<span class="medgenPMjournal">Card Electrophysiol Clin</span>
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2021 Mar;13(1):173-182.
|
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Epub 2021 Jan 8
|
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doi: 10.1016/j.ccep.2020.10.005.
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||
<span class="bold">PMID: </span><a href="/pubmed/33516395" target="_blank">33516395</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30354432">Chagas Cardiomyopathy: An Update of Current Clinical Knowledge and Management: A Scientific Statement From the American Heart Association.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nunes MCP,
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Beaton A,
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Acquatella H,
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Bern C,
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Bolger AF,
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Echeverría LE,
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Dutra WO,
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Gascon J,
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Morillo CA,
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Oliveira-Filho J,
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Ribeiro ALP,
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Marin-Neto JA;
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American Heart Association Rheumatic Fever, Endocarditis and Kawasaki Disease Committee of the Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Stroke Council</span><br />
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<span class="medgenPMjournal">Circulation</span>
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2018 Sep 18;138(12):e169-e209.
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<span class="bold">PMID: </span><a href="/pubmed/30354432" target="_blank">30354432</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26149040">Postoperative atrial fibrillation in non-cardiac and cardiac surgery: an overview.</a></div>
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Khan J,
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<span class="medgenPMjournal">J Thromb Haemost</span>
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2015 Jun;13 Suppl 1:S304-12.
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<span class="bold">PMID: </span><a href="/pubmed/26149040" target="_blank">26149040</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25496544">The left atrial appendage: anatomy, function, and noninvasive evaluation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Beigel R,
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Wunderlich NC,
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Ho SY,
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Arsanjani R,
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<span class="medgenPMjournal">JACC Cardiovasc Imaging</span>
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2014 Dec;7(12):1251-65.
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doi: 10.1016/j.jcmg.2014.08.009.
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<span class="bold">PMID: </span><a href="/pubmed/25496544" target="_blank">25496544</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiac%20arrhythmia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2380)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37548686">THE EFFICACY AND SAFETY OF VASOPRESSORS FOR SEPTIC SHOCK PATIENTS: A SYSTEMIC REVIEW AND NETWORK META-ANALYSIS.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Jia L,
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Wang P,
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Li C,
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||
Xie J</span><br />
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<span class="medgenPMjournal">Shock</span>
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||
2023 Dec 1;60(6):746-752.
|
||
Epub 2023 Aug 4
|
||
doi: 10.1097/SHK.0000000000002193.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37548686" target="_blank">37548686</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37002802">Sarcopenia and cardiovascular diseases: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zuo X,
|
||
Li X,
|
||
Tang K,
|
||
Zhao R,
|
||
Wu M,
|
||
Wang Y,
|
||
Li T</span><br />
|
||
<span class="medgenPMjournal">J Cachexia Sarcopenia Muscle</span>
|
||
2023 Jun;14(3):1183-1198.
|
||
Epub 2023 Apr 1
|
||
doi: 10.1002/jcsm.13221.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37002802" target="_blank">37002802</a><a href="/pmc/articles/PMC10235887" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34448706">Diagnostic Accuracy of Smartwatches for the Detection of Cardiac Arrhythmia: Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nazarian S,
|
||
Lam K,
|
||
Darzi A,
|
||
Ashrafian H</span><br />
|
||
<span class="medgenPMjournal">J Med Internet Res</span>
|
||
2021 Aug 27;23(8):e28974.
|
||
doi: 10.2196/28974.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34448706" target="_blank">34448706</a><a href="/pmc/articles/PMC8433941" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28181684">Exercise-based cardiac rehabilitation for adults with atrial fibrillation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Risom SS,
|
||
Zwisler AD,
|
||
Johansen PP,
|
||
Sibilitz KL,
|
||
Lindschou J,
|
||
Gluud C,
|
||
Taylor RS,
|
||
Svendsen JH,
|
||
Berg SK</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2017 Feb 9;2(2):CD011197.
|
||
doi: 10.1002/14651858.CD011197.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28181684" target="_blank">28181684</a><a href="/pmc/articles/PMC6464537" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25560302">Energy drinks and their adverse health effects: A systematic review of the current evidence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ali F,
|
||
Rehman H,
|
||
Babayan Z,
|
||
Stapleton D,
|
||
Joshi DD</span><br />
|
||
<span class="medgenPMjournal">Postgrad Med</span>
|
||
2015 Apr;127(3):308-22.
|
||
Epub 2015 Jan 6
|
||
doi: 10.1080/00325481.2015.1001712.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25560302" target="_blank">25560302</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiac%20arrhythmia%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (209)</a></div></div>
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