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<meta name="keywords" content="C2673193, brgda2, brugada syndrome 2, brugada syndrome caused by mutation in gpd1l, brugada syndrome type 2, disease or syndrome, gpd1l, gpd1l brugada syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Brugada syndrome is characterized by cardiac conduction abnormalities (ST segment abnormalities in leads V1-V3 on EKG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood, although age at diagnosis may range from infancy to late adulthood. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=382031
|
||
ConceptID=C2673193
|
||
-->
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<!--imgCountBooks = 3--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (3)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1517/bin/brugada-Image002.gif" src-large="/books/NBK1517/bin/brugada-Image002.jpg" /></a><br /><a href="/books/NBK1517/figure/brugada.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1517/bin/brugada-Image001.gif" src-large="/books/NBK1517/bin/brugada-Image001.jpg" /></a><br /><a href="/books/NBK1517/figure/brugada.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1517/bin/brugada-Image003.gif" src-large="/books/NBK1517/bin/brugada-Image003.jpg" /></a><br /><a href="/books/NBK1517/figure/brugada.F3/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Brugada syndrome 2<span class="h1sub">(BRGDA2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382031</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.">C2673193</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>BRGDA2</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="GPD1L - ID: 23171 - NCBI Gene" href="/gene/23171" class="medgenPMinfo">GPD1L</a> (3p22.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012728" target="_blank">MONDO:0012728</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/611777" target="_blank">611777</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>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1517" target="_blank">Brugada Syndrome</a></div><div>Brugada syndrome is characterized by cardiac conduction abnormalities (ST segment abnormalities in leads V1-V3 on EKG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood, although age at diagnosis may range from infancy to late adulthood. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1517#brugada.Summary" target="NBK1517">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1517#brugada.Diagnosis" target="NBK1517">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1517#brugada.Clinical_Characteristics" target="NBK1517">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1517#brugada.Genetically_Related_Allelic_Diso" target="NBK1517">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1517#brugada.Differential_Diagnosis" target="NBK1517">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1517#brugada.Management" target="NBK1517">Management</a> | <a class="medgenPMinfo" href="/books/NBK1517#brugada.Genetic_Counseling" target="NBK1517">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1517#brugada.Resources" target="NBK1517">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1517#brugada.Molecular_Genetics" target="NBK1517">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1517#brugada.Chapter_Notes" target="NBK1517">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1517#brugada.References" target="NBK1517">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Ramon Brugada | Oscar Campuzano | Georgia Sarquella-Brugada<i>, et. al.</i> <a href="/books/NBK1517" target="NBK1517" title="NCBI Bookshelf: Brugada Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by Antzelevitch et al., 2005).
|
||
For a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 (601144). <a target="_blank" href="http://www.omim.org/entry/611777">http://www.omim.org/entry/611777</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_38841"><div><strong>Sudden cardiac death</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>38841</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.">C0085298</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/38841">Feature record</a> | <a href="/medgen?term=%22Sudden%20cardiac%20death%22%5BClinical%20Features%5D%20OR%2038841%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21443"><div><strong>Syncope</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21443</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.">C0039070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21443">Feature record</a> | <a href="/medgen?term=%22Syncope%22%5BClinical%20Features%5D%20OR%2021443%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21844"><div><strong>Ventricular fibrillation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21844</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.">C0042510</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21844">Feature record</a> | <a href="/medgen?term=%22Ventricular%20fibrillation%22%5BClinical%20Features%5D%20OR%2021844%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43215"><div><strong>First degree atrioventricular block</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43215</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.">C0085614</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43215">Feature record</a> | <a href="/medgen?term=%22First%20degree%20atrioventricular%20block%22%5BClinical%20Features%5D%20OR%2043215%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_88445"><div><strong>Right bundle branch block</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88445</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.">C0085615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/88445">Feature record</a> | <a href="/medgen?term=%22Right%20bundle%20branch%20block%22%5BClinical%20Features%5D%20OR%2088445%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_154645"><div><strong>Prolonged PR interval</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154645</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.">C0600125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154645">Feature record</a> | <a href="/medgen?term=%22Prolonged%20PR%20interval%22%5BClinical%20Features%5D%20OR%20154645%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43215" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">First degree atrioventricular block</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154645" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolonged PR interval</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_88445" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Right bundle branch block</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21443" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syncope</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21844" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular fibrillation</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_38841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sudden cardiac death</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1142166[DISCUI]&test_type=Clinical" ref="ncbi_uid=222975">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=222975" target="_blank" href="/omim/601144">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1517/" ref="ncbi_uid=222975">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=222975" ref="ncbi_uid=222975">V</a></span></span><span class="TLline"><a href="/medgen/222975" ref="tree=GTR&ncbi_uid=222975&link_uid=222975" title="View MedGen record for 'Brugada syndrome'">Brugada syndrome</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=C4551804[DISCUI]&test_type=Clinical" ref="ncbi_uid=1646402">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1646402" target="_blank" href="/omim/600163">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1517/" ref="ncbi_uid=1646402">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1646402" ref="ncbi_uid=1646402">V</a></span></span><span class="TLline"><a href="/medgen/1646402" ref="tree=GTR&ncbi_uid=1646402&link_uid=1646402" title="View MedGen record for 'Brugada syndrome 1'">Brugada syndrome 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2673193[DISCUI]&test_type=Clinical" ref="ncbi_uid=382031">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382031" target="_blank" href="/omim/611777">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1517/" ref="ncbi_uid=382031">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=382031" ref="ncbi_uid=382031">V</a></span></span><span class="TLline">Brugada syndrome 2</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2678478[DISCUI]&test_type=Clinical" ref="ncbi_uid=395633">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=395633" target="_blank" href="/omim/114205">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1403%20OR%20NBK1517)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=395633">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=395633" ref="ncbi_uid=395633">V</a></span></span><span class="TLline"><a href="/medgen/395633" ref="tree=GTR&ncbi_uid=395633&link_uid=395633" title="View MedGen record for 'Brugada syndrome 3'">Brugada syndrome 3</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=C2678477[DISCUI]&test_type=Clinical" ref="ncbi_uid=395632">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=395632" target="_blank" href="/omim/600003">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1517/" ref="ncbi_uid=395632">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=395632" ref="ncbi_uid=395632">V</a></span></span><span class="TLline"><a href="/medgen/395632" ref="tree=GTR&ncbi_uid=395632&link_uid=395632" title="View MedGen record for 'Brugada syndrome 4'">Brugada syndrome 4</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=C2748541[DISCUI]&test_type=Clinical" ref="ncbi_uid=411607">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=411607" target="_blank" href="/omim/600235">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1517/" ref="ncbi_uid=411607">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=411607" ref="ncbi_uid=411607">V</a></span></span><span class="TLline"><a href="/medgen/411607" ref="tree=GTR&ncbi_uid=411607&link_uid=411607" title="View MedGen record for 'Brugada syndrome 5'">Brugada syndrome 5</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=C2751089[DISCUI]&test_type=Clinical" ref="ncbi_uid=413473">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413473" target="_blank" href="/omim/604433">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1517/" ref="ncbi_uid=413473">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413473" ref="ncbi_uid=413473">V</a></span></span><span class="TLline"><a href="/medgen/413473" ref="tree=GTR&ncbi_uid=413473&link_uid=413473" title="View MedGen record for 'Brugada syndrome 6'">Brugada syndrome 6</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=C2751088[DISCUI]&test_type=Clinical" ref="ncbi_uid=413472">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413472" target="_blank" href="/omim/608214">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1517/" ref="ncbi_uid=413472">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413472" ref="ncbi_uid=413472">V</a></span></span><span class="TLline"><a href="/medgen/413472" ref="tree=GTR&ncbi_uid=413472&link_uid=413472" title="View MedGen record for 'Brugada syndrome 7'">Brugada syndrome 7</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=C2751083[DISCUI]&test_type=Clinical" ref="ncbi_uid=413928">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413928" target="_blank" href="/omim/605206">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1517/" ref="ncbi_uid=413928">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413928" ref="ncbi_uid=413928">V</a></span></span><span class="TLline"><a href="/medgen/413928" ref="tree=GTR&ncbi_uid=413928&link_uid=413928" title="View MedGen record for 'Brugada syndrome 8'">Brugada syndrome 8</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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="TLline"><a href="/medgen/2039" ref="tree=MeSH" title="MedGen record for Cardiac arrhythmia">Cardiac arrhythmia</a></span><ul><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="matched_ds">Brugada syndrome 2</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></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/24603955">New electrocardiographic criteria to differentiate the Type-2 Brugada pattern from electrocardiogram of healthy athletes with r'-wave in leads V1/V2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Serra G,
|
||
Baranchuk A,
|
||
Bayés-De-Luna A,
|
||
Brugada J,
|
||
Goldwasser D,
|
||
Capulzini L,
|
||
Arazo D,
|
||
Boraita A,
|
||
Heras ME,
|
||
Garcia-Niebla J,
|
||
Elosua R,
|
||
Brugada R,
|
||
Brugada P</span><br />
|
||
<span class="medgenPMjournal">Europace</span>
|
||
2014 Nov;16(11):1639-45.
|
||
Epub 2014 Mar 6
|
||
doi: 10.1093/europace/euu025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24603955" target="_blank">24603955</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(brugada%20syndrome%202)%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 (1)</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/37500680">Cardiac defibrillator implantation in patients with syncope and inducible ventricular arrhythmia: insights from the German Device Registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kahle AK,
|
||
Senges J,
|
||
Hochadel M,
|
||
Brachmann J,
|
||
Thomas D,
|
||
Straube F,
|
||
Bonaventura K,
|
||
Larbig R,
|
||
Werner N,
|
||
Butter C,
|
||
Alken FA,
|
||
Meyer C</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2023 Jul 27;13(1):12182.
|
||
doi: 10.1038/s41598-023-37440-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37500680" target="_blank">37500680</a><a href="/pmc/articles/PMC10374635" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36372400">Prediction of the Presence of Ventricular Fibrillation From a Brugada Electrocardiogram Using Artificial Intelligence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura T,
|
||
Aiba T,
|
||
Shimizu W,
|
||
Furukawa T,
|
||
Sasano T</span><br />
|
||
<span class="medgenPMjournal">Circ J</span>
|
||
2023 Jun 23;87(7):1007-1014.
|
||
Epub 2022 Nov 12
|
||
doi: 10.1253/circj.CJ-22-0496.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36372400" target="_blank">36372400</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27503848">Long-Term Prognosis of Brugada-Type ECG and ECG With Atypical ST-Segment Elevation in the Right Precordial Leads Over 20 Years: Results From the Circulatory Risk in Communities Study (CIRCS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsuneoka H,
|
||
Takagi M,
|
||
Murakoshi N,
|
||
Yamagishi K,
|
||
Yokoyama Y,
|
||
Xu D,
|
||
Sekiguchi Y,
|
||
Yamasaki H,
|
||
Naruse Y,
|
||
Ito Y,
|
||
Igarashi M,
|
||
Kitamura A,
|
||
Okada T,
|
||
Tanigawa T,
|
||
Kuga K,
|
||
Ohira T,
|
||
Tada H,
|
||
Aonuma K,
|
||
Iso H;
|
||
CIRCS Investigators</span><br />
|
||
<span class="medgenPMjournal">J Am Heart Assoc</span>
|
||
2016 Aug 8;5(8)
|
||
doi: 10.1161/JAHA.115.002899.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27503848" target="_blank">27503848</a><a href="/pmc/articles/PMC5015268" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25194972">Cardiac evaluation of pediatric relatives in sudden arrhythmic death syndrome: a 2-center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wong LC,
|
||
Roses-Noguer F,
|
||
Till JA,
|
||
Behr ER</span><br />
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<span class="medgenPMjournal">Circ Arrhythm Electrophysiol</span>
|
||
2014 Oct;7(5):800-6.
|
||
Epub 2014 Sep 6
|
||
doi: 10.1161/CIRCEP.114.001818.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25194972" target="_blank">25194972</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24603955">New electrocardiographic criteria to differentiate the Type-2 Brugada pattern from electrocardiogram of healthy athletes with r'-wave in leads V1/V2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Serra G,
|
||
Baranchuk A,
|
||
Bayés-De-Luna A,
|
||
Brugada J,
|
||
Goldwasser D,
|
||
Capulzini L,
|
||
Arazo D,
|
||
Boraita A,
|
||
Heras ME,
|
||
Garcia-Niebla J,
|
||
Elosua R,
|
||
Brugada R,
|
||
Brugada P</span><br />
|
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<span class="medgenPMjournal">Europace</span>
|
||
2014 Nov;16(11):1639-45.
|
||
Epub 2014 Mar 6
|
||
doi: 10.1093/europace/euu025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24603955" target="_blank">24603955</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brugada%20syndrome%202%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 (7)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28705229">Brugada syndrome in a patient with amyotrophic lateral sclerosis: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Battineni A,
|
||
Gummi R,
|
||
Mullaguri N,
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||
Govindarajan R</span><br />
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<span class="medgenPMjournal">J Med Case Rep</span>
|
||
2017 Jul 14;11(1):192.
|
||
doi: 10.1186/s13256-017-1356-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28705229" target="_blank">28705229</a><a href="/pmc/articles/PMC5513085" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27503848">Long-Term Prognosis of Brugada-Type ECG and ECG With Atypical ST-Segment Elevation in the Right Precordial Leads Over 20 Years: Results From the Circulatory Risk in Communities Study (CIRCS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsuneoka H,
|
||
Takagi M,
|
||
Murakoshi N,
|
||
Yamagishi K,
|
||
Yokoyama Y,
|
||
Xu D,
|
||
Sekiguchi Y,
|
||
Yamasaki H,
|
||
Naruse Y,
|
||
Ito Y,
|
||
Igarashi M,
|
||
Kitamura A,
|
||
Okada T,
|
||
Tanigawa T,
|
||
Kuga K,
|
||
Ohira T,
|
||
Tada H,
|
||
Aonuma K,
|
||
Iso H;
|
||
CIRCS Investigators</span><br />
|
||
<span class="medgenPMjournal">J Am Heart Assoc</span>
|
||
2016 Aug 8;5(8)
|
||
doi: 10.1161/JAHA.115.002899.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27503848" target="_blank">27503848</a><a href="/pmc/articles/PMC5015268" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26851992">New methodologies for measuring Brugada ECG patterns cannot differentiate the ECG pattern of Brugada syndrome from Brugada phenocopy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gottschalk BH,
|
||
Garcia-Niebla J,
|
||
Anselm DD,
|
||
Jaidka A,
|
||
De Luna AB,
|
||
Baranchuk A</span><br />
|
||
<span class="medgenPMjournal">J Electrocardiol</span>
|
||
2016 Mar-Apr;49(2):187-91.
|
||
Epub 2015 Dec 23
|
||
doi: 10.1016/j.jelectrocard.2015.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26851992" target="_blank">26851992</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25194972">Cardiac evaluation of pediatric relatives in sudden arrhythmic death syndrome: a 2-center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wong LC,
|
||
Roses-Noguer F,
|
||
Till JA,
|
||
Behr ER</span><br />
|
||
<span class="medgenPMjournal">Circ Arrhythm Electrophysiol</span>
|
||
2014 Oct;7(5):800-6.
|
||
Epub 2014 Sep 6
|
||
doi: 10.1161/CIRCEP.114.001818.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25194972" target="_blank">25194972</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24827804">New electrocardiographic features in Brugada syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Luna AB,
|
||
Garcia-Niebla J,
|
||
Baranchuk A</span><br />
|
||
<span class="medgenPMjournal">Curr Cardiol Rev</span>
|
||
2014 Aug;10(3):175-80.
|
||
doi: 10.2174/1573403x10666140514101546.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24827804" target="_blank">24827804</a><a href="/pmc/articles/PMC4040869" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brugada%20syndrome%202%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 (9)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37500680">Cardiac defibrillator implantation in patients with syncope and inducible ventricular arrhythmia: insights from the German Device Registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kahle AK,
|
||
Senges J,
|
||
Hochadel M,
|
||
Brachmann J,
|
||
Thomas D,
|
||
Straube F,
|
||
Bonaventura K,
|
||
Larbig R,
|
||
Werner N,
|
||
Butter C,
|
||
Alken FA,
|
||
Meyer C</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2023 Jul 27;13(1):12182.
|
||
doi: 10.1038/s41598-023-37440-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37500680" target="_blank">37500680</a><a href="/pmc/articles/PMC10374635" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22891011">Isoprenaline and quinidine to calm Brugada VF storm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Furniss G</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2012 Aug 13;2012
|
||
doi: 10.1136/bcr.04.2011.4156.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22891011" target="_blank">22891011</a><a href="/pmc/articles/PMC3433527" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21616715">Symptoms and signs associated with syncope in young people with primary cardiac arrhythmias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">MacCormick JM,
|
||
Crawford JR,
|
||
Chung SK,
|
||
Shelling AN,
|
||
Evans CA,
|
||
Rees MI,
|
||
Smith WM,
|
||
Crozier IG,
|
||
McAlister H,
|
||
Skinner JR</span><br />
|
||
<span class="medgenPMjournal">Heart Lung Circ</span>
|
||
2011 Sep;20(9):593-8.
|
||
Epub 2011 May 26
|
||
doi: 10.1016/j.hlc.2011.04.036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21616715" target="_blank">21616715</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brugada%20syndrome%202%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37500680">Cardiac defibrillator implantation in patients with syncope and inducible ventricular arrhythmia: insights from the German Device Registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kahle AK,
|
||
Senges J,
|
||
Hochadel M,
|
||
Brachmann J,
|
||
Thomas D,
|
||
Straube F,
|
||
Bonaventura K,
|
||
Larbig R,
|
||
Werner N,
|
||
Butter C,
|
||
Alken FA,
|
||
Meyer C</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2023 Jul 27;13(1):12182.
|
||
doi: 10.1038/s41598-023-37440-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37500680" target="_blank">37500680</a><a href="/pmc/articles/PMC10374635" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36372400">Prediction of the Presence of Ventricular Fibrillation From a Brugada Electrocardiogram Using Artificial Intelligence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura T,
|
||
Aiba T,
|
||
Shimizu W,
|
||
Furukawa T,
|
||
Sasano T</span><br />
|
||
<span class="medgenPMjournal">Circ J</span>
|
||
2023 Jun 23;87(7):1007-1014.
|
||
Epub 2022 Nov 12
|
||
doi: 10.1253/circj.CJ-22-0496.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36372400" target="_blank">36372400</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27503848">Long-Term Prognosis of Brugada-Type ECG and ECG With Atypical ST-Segment Elevation in the Right Precordial Leads Over 20 Years: Results From the Circulatory Risk in Communities Study (CIRCS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsuneoka H,
|
||
Takagi M,
|
||
Murakoshi N,
|
||
Yamagishi K,
|
||
Yokoyama Y,
|
||
Xu D,
|
||
Sekiguchi Y,
|
||
Yamasaki H,
|
||
Naruse Y,
|
||
Ito Y,
|
||
Igarashi M,
|
||
Kitamura A,
|
||
Okada T,
|
||
Tanigawa T,
|
||
Kuga K,
|
||
Ohira T,
|
||
Tada H,
|
||
Aonuma K,
|
||
Iso H;
|
||
CIRCS Investigators</span><br />
|
||
<span class="medgenPMjournal">J Am Heart Assoc</span>
|
||
2016 Aug 8;5(8)
|
||
doi: 10.1161/JAHA.115.002899.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27503848" target="_blank">27503848</a><a href="/pmc/articles/PMC5015268" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26851992">New methodologies for measuring Brugada ECG patterns cannot differentiate the ECG pattern of Brugada syndrome from Brugada phenocopy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gottschalk BH,
|
||
Garcia-Niebla J,
|
||
Anselm DD,
|
||
Jaidka A,
|
||
De Luna AB,
|
||
Baranchuk A</span><br />
|
||
<span class="medgenPMjournal">J Electrocardiol</span>
|
||
2016 Mar-Apr;49(2):187-91.
|
||
Epub 2015 Dec 23
|
||
doi: 10.1016/j.jelectrocard.2015.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26851992" target="_blank">26851992</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25194972">Cardiac evaluation of pediatric relatives in sudden arrhythmic death syndrome: a 2-center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wong LC,
|
||
Roses-Noguer F,
|
||
Till JA,
|
||
Behr ER</span><br />
|
||
<span class="medgenPMjournal">Circ Arrhythm Electrophysiol</span>
|
||
2014 Oct;7(5):800-6.
|
||
Epub 2014 Sep 6
|
||
doi: 10.1161/CIRCEP.114.001818.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25194972" target="_blank">25194972</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brugada%20syndrome%202%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 (6)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37500680">Cardiac defibrillator implantation in patients with syncope and inducible ventricular arrhythmia: insights from the German Device Registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kahle AK,
|
||
Senges J,
|
||
Hochadel M,
|
||
Brachmann J,
|
||
Thomas D,
|
||
Straube F,
|
||
Bonaventura K,
|
||
Larbig R,
|
||
Werner N,
|
||
Butter C,
|
||
Alken FA,
|
||
Meyer C</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2023 Jul 27;13(1):12182.
|
||
doi: 10.1038/s41598-023-37440-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37500680" target="_blank">37500680</a><a href="/pmc/articles/PMC10374635" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36372400">Prediction of the Presence of Ventricular Fibrillation From a Brugada Electrocardiogram Using Artificial Intelligence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura T,
|
||
Aiba T,
|
||
Shimizu W,
|
||
Furukawa T,
|
||
Sasano T</span><br />
|
||
<span class="medgenPMjournal">Circ J</span>
|
||
2023 Jun 23;87(7):1007-1014.
|
||
Epub 2022 Nov 12
|
||
doi: 10.1253/circj.CJ-22-0496.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36372400" target="_blank">36372400</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27503848">Long-Term Prognosis of Brugada-Type ECG and ECG With Atypical ST-Segment Elevation in the Right Precordial Leads Over 20 Years: Results From the Circulatory Risk in Communities Study (CIRCS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsuneoka H,
|
||
Takagi M,
|
||
Murakoshi N,
|
||
Yamagishi K,
|
||
Yokoyama Y,
|
||
Xu D,
|
||
Sekiguchi Y,
|
||
Yamasaki H,
|
||
Naruse Y,
|
||
Ito Y,
|
||
Igarashi M,
|
||
Kitamura A,
|
||
Okada T,
|
||
Tanigawa T,
|
||
Kuga K,
|
||
Ohira T,
|
||
Tada H,
|
||
Aonuma K,
|
||
Iso H;
|
||
CIRCS Investigators</span><br />
|
||
<span class="medgenPMjournal">J Am Heart Assoc</span>
|
||
2016 Aug 8;5(8)
|
||
doi: 10.1161/JAHA.115.002899.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27503848" target="_blank">27503848</a><a href="/pmc/articles/PMC5015268" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26851992">New methodologies for measuring Brugada ECG patterns cannot differentiate the ECG pattern of Brugada syndrome from Brugada phenocopy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gottschalk BH,
|
||
Garcia-Niebla J,
|
||
Anselm DD,
|
||
Jaidka A,
|
||
De Luna AB,
|
||
Baranchuk A</span><br />
|
||
<span class="medgenPMjournal">J Electrocardiol</span>
|
||
2016 Mar-Apr;49(2):187-91.
|
||
Epub 2015 Dec 23
|
||
doi: 10.1016/j.jelectrocard.2015.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26851992" target="_blank">26851992</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25194972">Cardiac evaluation of pediatric relatives in sudden arrhythmic death syndrome: a 2-center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wong LC,
|
||
Roses-Noguer F,
|
||
Till JA,
|
||
Behr ER</span><br />
|
||
<span class="medgenPMjournal">Circ Arrhythm Electrophysiol</span>
|
||
2014 Oct;7(5):800-6.
|
||
Epub 2014 Sep 6
|
||
doi: 10.1161/CIRCEP.114.001818.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25194972" target="_blank">25194972</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brugada%20syndrome%202%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 (7)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2673193%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (21)</a></li>
|
||
<li><a href="/gtr/tests?term=C2673193%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2673193%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2673193%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2673193%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (39)</a></li>
|
||
<li><a href="/gtr/tests?term=C2673193%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (13)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2673193%5bDISCUI%5d" target="_blank">See all (40)</a></total></li>
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</ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=611777" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Brugada%20syndrome%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(brugada%20syndrome%202)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=611778" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=23171[geneid]" target="_blank">View GPD1L variations in ClinVar</a></li><li><a href="/nuccore/300796788" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=611777" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Brugada+syndrome+2/7874" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/brugada_syndrome_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Brugada%20syndrome%202" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15526/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=382031" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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