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<meta name="keywords" content="C0238705, enlarged heart left atrium, finding, left atrial enlargement, left atrial hypertrophy, 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="Increase in size of the left atrium." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=536845
ConceptID=C0238705
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Left atrial enlargement</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>536845</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)&#10;Click for more information.">C0238705</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Enlarged heart left atrium; Left atrial hypertrophy</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Left atrial hypertrophy (446813000); Left atrial enlargement (67741000119109)</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:0031295">HP:0031295</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_100">
<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">Increase in size of the left atrium. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</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="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</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">Left atrial enlargement</span></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/892473" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system morphology">Abnormal cardiovascular system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/6748" ref="tree=MeSH" title="MedGen record for Abnormal heart morphology">Abnormal heart morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870789" ref="tree=MeSH" title="MedGen record for Abnormal cardiac atrium morphology">Abnormal cardiac atrium morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1631247" ref="tree=MeSH" title="MedGen record for Abnormal left atrium morphology">Abnormal left atrium morphology</a></span><ul><li><span class="matched_ds">Left atrial enlargement</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_112">
<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>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_324806"><div><strong>Hypertrophic cardiomyopathy 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324806</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)&#10;Click for more information.">C1837471</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/324806">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_335320"><div><strong>Uruguay Faciocardiomusculoskeletal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335320</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)&#10;Click for more information.">C1846010</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Uruguay faciocardiomusculoskeletal syndrome (FCMSU) is an X-linked disorder in which affected males have a distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy leading to premature death. Additional features include large, broad, and deformed hands and feet, congenital hip dislocation, and scoliosis (summary by Xue et al., 2016).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/335320">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_396236"><div><strong>Cardiomyopathy, familial restrictive, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396236</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)&#10;Click for more information.">C1861861</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Restrictive cardiomyopathy (RCM) is a myocardial disease characterized by impaired ventricular filling and reduced diastolic volume in the presence of normal systolic function and normal or near-normal myocardial thickness. The disease is characterized by symptoms of progressive left- and right-sided heart failure. The overall prognosis is poor, especially when onset is in childhood, and patients often require cardiac transplantation (Mogensen et al., 2003).&#13; Genetic Heterogeneity of Familial Restrictive Cardiomyopathy&#13; Other forms of familial restrictive cardiomyopathy include RCM2 (609578), mapped to chromosome 10q23; RCM3 (612422), caused by mutation in the TNNT2 gene (191045) on chromosome 1q32; RCM4 (see 615248), caused by mutation in the MYPN gene (608517) on chromosome 10q21; RCM5 (see 617047), caused by mutation in the FLNC gene (102565) on chromosome 7q32; and RCM6 (619433), caused by mutation in the KIF20A gene (605664) on chromosome 5q31.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/396236">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_409741"><div><strong>Glycogen storage disease due to muscle and heart glycogen synthase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409741</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)&#10;Click for more information.">C1969054</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Individuals with liver GSD 0 usually show signs and symptoms of the disorder in infancy. People with this disorder develop low blood sugar (glucose), known as hypoglycemia, after going long periods of time without food (fasting). Signs of hypoglycemia become apparent when affected infants begin sleeping through the night and stop late-night feedings; these infants exhibit extreme tiredness (lethargy), pale skin (pallor), and nausea. During episodes of fasting, ketone levels in the blood may increase (ketosis). Ketones are molecules produced during the breakdown of fats, which occurs when stored sugars (such as glycogen) are unavailable. These short-term signs and symptoms of liver GSD 0 often improve when food is eaten and glucose levels in the body return to normal. The features of liver GSD 0 vary; they can be mild and go unnoticed for years, or they can include developmental delay and growth failure.\n\nThe signs and symptoms of muscle GSD 0 typically begin in early childhood. Affected individuals often experience muscle pain and weakness or episodes of fainting (syncope) following moderate physical activity, such as walking up stairs. The loss of consciousness that occurs with fainting typically lasts up to several hours. Some individuals with muscle GSD 0 have a disruption of the heart's normal rhythm (arrhythmia) known as long QT syndrome. In all affected individuals, muscle GSD 0 impairs the heart's ability to effectively pump blood and increases the risk of cardiac arrest and sudden death, particularly after physical activity. Sudden death from cardiac arrest can occur in childhood or adolescence in people with muscle GSD 0.\n\nGlycogen storage disease type 0 (also known as GSD 0) is a condition caused by the body's inability to form a complex sugar called glycogen, which is a major source of stored energy in the body. GSD 0 has two types: in muscle GSD 0, glycogen formation in the muscles is impaired, and in liver GSD 0, glycogen formation in the liver is impaired.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/409741">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_394252"><div><strong>Atrial fibrillation, familial, 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394252</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)&#10;Click for more information.">C2677294</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).&#13; For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/394252">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462796"><div><strong>Nestor-Guillermo progeria syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462796</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)&#10;Click for more information.">C3151446</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Nestor-Guillermo progeria syndrome (NGPS) is an autosomal recessive disorder characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life. Onset is after 2 years of age, and lifespan is relatively long (summary by Cabanillas et al., 2011).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462796">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462814"><div><strong>Atrial fibrillation, familial, 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462814</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)&#10;Click for more information.">C3151464</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).&#13; For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462814">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)&#10;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_815641"><div><strong>Atrial fibrillation, familial, 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815641</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)&#10;Click for more information.">C3809311</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).&#13; For a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 (608583).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/815641">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_862706"><div><strong>Atrial fibrillation, familial, 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862706</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)&#10;Click for more information.">C4014269</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Atrial fibrillation (AF) is a supraventricular tachyarrhythmia characterized by uncoordinated atrial activation with consequent deterioration of atrial mechanical function. It is the most common sustained cardiac rhythm disturbance, and its prevalence increases as the population ages. An estimated 70,000 strokes each year are caused by atrial fibrillation (summary by Oberti et al., 2004).&#13; For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/862706">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_863911"><div><strong>Chronic atrial and intestinal dysrhythmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863911</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)&#10;Click for more information.">C4015474</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Syndrome with characteristics of sick sinus syndrome and intestinal pseudo-obstruction. The heart and digestive issues develop at the same time, usually by age 20. The syndrome is caused by mutations in the SGO1 gene. This gene provides instructions for making part of a protein complex cohesin. This protein complex helps control the placement of chromosomes during cell division. Research suggests that SGO1 gene mutations may result in a cohesin complex that is less able to hold sister chromatids together, resulting in decreased chromosomal stability during cell division. This instability is thought to cause senescence of cells in the intestinal muscle and in the sinoatrial node, resulting in problems maintaining proper rhythmic movements of the heart and intestines.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/863911">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934716"><div><strong>Hypertrophic cardiomyopathy 26</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934716</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)&#10;Click for more information.">C4310749</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial cardiomyopathy caused by mutation in the FLNC gene has been described as hypertrophic, restrictive, dilated, or arrhythmogenic right ventricular cardiomyopathy. Affected individuals, especially those with dilated cardiomyopathy, are at risk for arrhythmias and sudden death. Arrhythmias without cardiomyopathy, and left ventricular noncompaction, have also been reported (Ortiz-Genga et al., 2016; Verdonschot et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934716">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1647391"><div><strong>MYH7-related skeletal myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647391</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)&#10;Click for more information.">C4552004</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Laing distal myopathy is characterized by early-onset weakness (usually before age 5 years) that initially involves the dorsiflexors of the ankles and great toes and then the finger extensors, especially those of the third and fourth fingers. Weakness of the neck flexors is seen in most affected individuals and mild facial weakness is often present. After distal weakness has been present for more than ten years, mild proximal weakness may be observed. Life expectancy is normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1647391">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1779612"><div><strong>Cardiomyopathy, familial hypertrophic, 28</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1779612</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)&#10;Click for more information.">C5543616</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial hypertrophic cardiomyopathy-28 (CMH28) is characterized by asymmetric septal hypertrophy, atrial fibrillation and nonsustained ventricular tachycardia, and risk of sudden death. Dyspnea is the most common symptom, but more than half of affected individuals are asymptomatic. Hypertrabeculation of the left ventricle with noncompaction has been observed in some patients (Ochoa et al., 2018).&#13; For a general phenotypic description and discussion of genetic heterogeneity of familial hypertrophic cardiomyopathy, see CMH1 (192600).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1779612">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794147"><div><strong>Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794147</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)&#10;Click for more information.">C5561937</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Infantile-onset myofibrillar myopathy-12 with cardiomyopathy (MFM12) is a severe autosomal recessive disorder affecting both skeletal and cardiac muscle tissue that is apparent in the first weeks of life. Affected infants show tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure, usually resulting in death by 6 months of age. Skeletal and cardiac muscle tissues show hypotrophy of type I muscle fibers and evidence of myofibrillar disorganization (summary by Weterman et al., 2013).&#13; For a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794147">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1801983"><div><strong>Cardiomyopathy, dilated, 2G</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1801983</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)&#10;Click for more information.">C5676995</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dilated cardiomyopathy-2G (CMD2G) is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy. Cardiac tissue exhibits markedly shortened thin filaments, disorganized myofibrils, and reduced contractile force generation, resulting in the severe ventricular dysfunction observed. There is no evidence of skeletal muscle hypertrophy (Ahrens-Nicklas et al., 2019).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1801983">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1823949"><div><strong>Cardiac valvular defect, developmental</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823949</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)&#10;Click for more information.">C5774175</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cardiac valvular dysplasia-1 (CVDP1) is characterized by congenital malformations of the pulmonic, tricuspid, and mitral valves. Structural cardiac defects, including atrial and ventricular septal defects, single left ventricle, and hypoplastic right ventricle have also been observed in affected individuals (Ta-Shma et al., 2017).&#13; Genetic Heterogeneity of Cardiac Valvular Dysplasia&#13; CVDP2 (620067) is caused by mutation in the ADAMTS19 gene (607513) on chromosome 5q23.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1823949">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1823968"><div><strong>Liver disease, severe congenital</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823968</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)&#10;Click for more information.">C5774195</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Severe congenital liver disease (SCOLIV) is an autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Affected individuals show feeding difficulties with failure to thrive and features such as jaundice, hepatomegaly, and abdominal distension. Laboratory workup is consistent with hepatic insufficiency and may also show coagulation defects, anemia, or metabolic disturbances. Cirrhosis and hypernodularity are commonly observed on liver biopsy. Many patients die of liver failure in early childhood (Moreno Traspas et al., 2022).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1823968">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1858408"><div><strong>Cardiomyopathy, familial hypertrophic, 30, atrial</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1858408</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)&#10;Click for more information.">C5935586</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial atrial hypertrophic cardiomyopathy-30 (CMH30) is characterized by atrial arrhythmias, including flutter and fibrillation, atrial structural abnormalities with hypertrophic cardiomyopathy and fibrosis, and hypertension (Baris Feldman et al., 2023).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1858408">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial fibrillation, familial, 10</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815641" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial fibrillation, familial, 13</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862706" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial fibrillation, familial, 15</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394252" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial fibrillation, familial, 6</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823949" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac valvular defect, developmental</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (19)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1801983" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyopathy, dilated, 2G</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1779612" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyopathy, familial hypertrophic, 28</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1858408" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyopathy, familial hypertrophic, 30, atrial</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_396236" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyopathy, familial restrictive, 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863911" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic atrial and intestinal dysrhythmia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_409741" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycogen storage disease due to muscle and heart glycogen synthase deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934716" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy 26</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324806" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy 8</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Liver disease, severe congenital</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647391" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MYH7-related skeletal myopathy</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794147" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462796" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nestor-Guillermo progeria 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_335320" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Uruguay Faciocardiomusculoskeletal syndrome</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/36480974">Pathophysiology, Echocardiographic Diagnosis, and Treatment of Atrial Functional Mitral Regurgitation: JACC State-of-the-Art Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Farhan S,
Silbiger JJ,
Halperin JL,
Zhang L,
Dukkipati SR,
Vogel B,
Kini A,
Sharma S,
Lerakis S</span><br />
<span class="medgenPMjournal">J Am Coll Cardiol</span>
2022 Dec 13;80(24):2314-2330.
doi: 10.1016/j.jacc.2022.09.046.
<span class="bold">PMID: </span><a href="/pubmed/36480974" target="_blank">36480974</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29587523">Assessment of electrocardiographic criteria of left atrial enlargement.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Batra MK,
Khan A,
Farooq F,
Masood T,
Karim M</span><br />
<span class="medgenPMjournal">Asian Cardiovasc Thorac Ann</span>
2018 May;26(4):273-276.
Epub 2018 Mar 27
doi: 10.1177/0218492318768131.
<span class="bold">PMID: </span><a href="/pubmed/29587523" target="_blank">29587523</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21164497">Diagnosis and management of left ventricular diastolic dysfunction in the hypertensive patient.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Galderisi M</span><br />
<span class="medgenPMjournal">Am J Hypertens</span>
2011 May;24(5):507-17.
Epub 2010 Dec 16
doi: 10.1038/ajh.2010.235.
<span class="bold">PMID: </span><a href="/pubmed/21164497" target="_blank">21164497</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22left%20atrial%20enlargement%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 (35)</a></div></div>
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<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/35165169">Protecting against sedentary lifestyle, left atrial enlargement and atrial fibrillation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sanchis-Gomar F,
Lavie CJ</span><br />
<span class="medgenPMjournal">Open Heart</span>
2022 Feb;9(1)
doi: 10.1136/openhrt-2022-001962.
<span class="bold">PMID: </span><a href="/pubmed/35165169" target="_blank">35165169</a><a href="/pmc/articles/PMC8845329" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31952983">Left atrial diameter thresholds and new incident atrial fibrillation in embolic stroke of undetermined source.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Perlepe K,
Sirimarco G,
Strambo D,
Eskandari A,
Karagkiozi E,
Vemmou A,
Koroboki E,
Manios E,
Makaritsis K,
Vemmos K,
Michel P,
Ntaios G</span><br />
<span class="medgenPMjournal">Eur J Intern Med</span>
2020 May;75:30-34.
Epub 2020 Jan 15
doi: 10.1016/j.ejim.2020.01.002.
<span class="bold">PMID: </span><a href="/pubmed/31952983" target="_blank">31952983</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31806129">Echocardiographic Features of Patients With Heart Failure and Preserved Left Ventricular Ejection Fraction.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shah AM,
Cikes M,
Prasad N,
Li G,
Getchevski S,
Claggett B,
Rizkala A,
Lukashevich I,
O'Meara E,
Ryan JJ,
Shah SJ,
Mullens W,
Zile MR,
Lam CSP,
McMurray JJV,
Solomon SD;
PARAGON-HF Investigators</span><br />
<span class="medgenPMjournal">J Am Coll Cardiol</span>
2019 Dec 10;74(23):2858-2873.
doi: 10.1016/j.jacc.2019.09.063.
<span class="bold">PMID: </span><a href="/pubmed/31806129" target="_blank">31806129</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29523996">New-onset atrial fibrillation: an update.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Omae T,
Inada E</span><br />
<span class="medgenPMjournal">J Anesth</span>
2018 Jun;32(3):414-424.
Epub 2018 Mar 9
doi: 10.1007/s00540-018-2478-8.
<span class="bold">PMID: </span><a href="/pubmed/29523996" target="_blank">29523996</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1787016">Pill-induced esophageal injury.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kikendall JW</span><br />
<span class="medgenPMjournal">Gastroenterol Clin North Am</span>
1991 Dec;20(4):835-46.
<span class="bold">PMID: </span><a href="/pubmed/1787016" target="_blank">1787016</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Left%20atrial%20enlargement%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 (634)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38551534">The Evolving Concept of Secondary Mitral Regurgitation Phenotypes: Lessons From the M-TEER Trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stolz L,
Doldi PM,
Sannino A,
Hausleiter J,
Grayburn PA</span><br />
<span class="medgenPMjournal">JACC Cardiovasc Imaging</span>
2024 Jun;17(6):659-668.
Epub 2024 Mar 27
doi: 10.1016/j.jcmg.2024.01.012.
<span class="bold">PMID: </span><a href="/pubmed/38551534" target="_blank">38551534</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36480974">Pathophysiology, Echocardiographic Diagnosis, and Treatment of Atrial Functional Mitral Regurgitation: JACC State-of-the-Art Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Farhan S,
Silbiger JJ,
Halperin JL,
Zhang L,
Dukkipati SR,
Vogel B,
Kini A,
Sharma S,
Lerakis S</span><br />
<span class="medgenPMjournal">J Am Coll Cardiol</span>
2022 Dec 13;80(24):2314-2330.
doi: 10.1016/j.jacc.2022.09.046.
<span class="bold">PMID: </span><a href="/pubmed/36480974" target="_blank">36480974</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35366231">Ortner's Syndrome Due to Giant Thoracic Aortic Aneurysm.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shrimanth YS,
Barwad P,
Maralakunte M,
Sharma A,
Sihag BK</span><br />
<span class="medgenPMjournal">J Invasive Cardiol</span>
2022 Apr;34(4):E346.
doi: 10.25270/jic/21.00417.
<span class="bold">PMID: </span><a href="/pubmed/35366231" target="_blank">35366231</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19356795">Mitral regurgitation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Enriquez-Sarano M,
Akins CW,
Vahanian A</span><br />
<span class="medgenPMjournal">Lancet</span>
2009 Apr 18;373(9672):1382-94.
Epub 2009 Apr 6
doi: 10.1016/S0140-6736(09)60692-9.
<span class="bold">PMID: </span><a href="/pubmed/19356795" target="_blank">19356795</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1787016">Pill-induced esophageal injury.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kikendall JW</span><br />
<span class="medgenPMjournal">Gastroenterol Clin North Am</span>
1991 Dec;20(4):835-46.
<span class="bold">PMID: </span><a href="/pubmed/1787016" target="_blank">1787016</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Left%20atrial%20enlargement%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 (487)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38773065">Deep learning of left atrial structure and function provides link to atrial fibrillation risk.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pirruccello JP,
Di Achille P,
Choi SH,
Rämö JT,
Khurshid S,
Nekoui M,
Jurgens SJ,
Nauffal V,
Kany S;
FinnGen,
Ng K,
Friedman SF,
Batra P,
Lunetta KL,
Palotie A,
Philippakis AA,
Ho JE,
Lubitz SA,
Ellinor PT</span><br />
<span class="medgenPMjournal">Nat Commun</span>
2024 May 21;15(1):4304.
doi: 10.1038/s41467-024-48229-w.
<span class="bold">PMID: </span><a href="/pubmed/38773065" target="_blank">38773065</a><a href="/pmc/articles/PMC11109224" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38551534">The Evolving Concept of Secondary Mitral Regurgitation Phenotypes: Lessons From the M-TEER Trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stolz L,
Doldi PM,
Sannino A,
Hausleiter J,
Grayburn PA</span><br />
<span class="medgenPMjournal">JACC Cardiovasc Imaging</span>
2024 Jun;17(6):659-668.
Epub 2024 Mar 27
doi: 10.1016/j.jcmg.2024.01.012.
<span class="bold">PMID: </span><a href="/pubmed/38551534" target="_blank">38551534</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31926856">Clinical Phenogroups in Heart Failure With Preserved Ejection Fraction: Detailed Phenotypes, Prognosis, and Response to Spironolactone.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen JB,
Schrauben SJ,
Zhao L,
Basso MD,
Cvijic ME,
Li Z,
Yarde M,
Wang Z,
Bhattacharya PT,
Chirinos DA,
Prenner S,
Zamani P,
Seiffert DA,
Car BD,
Gordon DA,
Margulies K,
Cappola T,
Chirinos JA</span><br />
<span class="medgenPMjournal">JACC Heart Fail</span>
2020 Mar;8(3):172-184.
Epub 2020 Jan 8
doi: 10.1016/j.jchf.2019.09.009.
<span class="bold">PMID: </span><a href="/pubmed/31926856" target="_blank">31926856</a><a href="/pmc/articles/PMC7058514" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31806129">Echocardiographic Features of Patients With Heart Failure and Preserved Left Ventricular Ejection Fraction.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shah AM,
Cikes M,
Prasad N,
Li G,
Getchevski S,
Claggett B,
Rizkala A,
Lukashevich I,
O'Meara E,
Ryan JJ,
Shah SJ,
Mullens W,
Zile MR,
Lam CSP,
McMurray JJV,
Solomon SD;
PARAGON-HF Investigators</span><br />
<span class="medgenPMjournal">J Am Coll Cardiol</span>
2019 Dec 10;74(23):2858-2873.
doi: 10.1016/j.jacc.2019.09.063.
<span class="bold">PMID: </span><a href="/pubmed/31806129" target="_blank">31806129</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1787016">Pill-induced esophageal injury.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kikendall JW</span><br />
<span class="medgenPMjournal">Gastroenterol Clin North Am</span>
1991 Dec;20(4):835-46.
<span class="bold">PMID: </span><a href="/pubmed/1787016" target="_blank">1787016</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Left%20atrial%20enlargement%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 (205)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38551534">The Evolving Concept of Secondary Mitral Regurgitation Phenotypes: Lessons From the M-TEER Trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stolz L,
Doldi PM,
Sannino A,
Hausleiter J,
Grayburn PA</span><br />
<span class="medgenPMjournal">JACC Cardiovasc Imaging</span>
2024 Jun;17(6):659-668.
Epub 2024 Mar 27
doi: 10.1016/j.jcmg.2024.01.012.
<span class="bold">PMID: </span><a href="/pubmed/38551534" target="_blank">38551534</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35366231">Ortner's Syndrome Due to Giant Thoracic Aortic Aneurysm.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shrimanth YS,
Barwad P,
Maralakunte M,
Sharma A,
Sihag BK</span><br />
<span class="medgenPMjournal">J Invasive Cardiol</span>
2022 Apr;34(4):E346.
doi: 10.25270/jic/21.00417.
<span class="bold">PMID: </span><a href="/pubmed/35366231" target="_blank">35366231</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34542152">A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Park J,
Packard EA,
Levin MG,
Judy RL;
Regeneron Genetics Center,
Damrauer SM,
Day SM,
Ritchie MD,
Rader DJ</span><br />
<span class="medgenPMjournal">Hum Mol Genet</span>
2022 Mar 3;31(5):827-837.
doi: 10.1093/hmg/ddab249.
<span class="bold">PMID: </span><a href="/pubmed/34542152" target="_blank">34542152</a><a href="/pmc/articles/PMC8895730" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31926856">Clinical Phenogroups in Heart Failure With Preserved Ejection Fraction: Detailed Phenotypes, Prognosis, and Response to Spironolactone.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen JB,
Schrauben SJ,
Zhao L,
Basso MD,
Cvijic ME,
Li Z,
Yarde M,
Wang Z,
Bhattacharya PT,
Chirinos DA,
Prenner S,
Zamani P,
Seiffert DA,
Car BD,
Gordon DA,
Margulies K,
Cappola T,
Chirinos JA</span><br />
<span class="medgenPMjournal">JACC Heart Fail</span>
2020 Mar;8(3):172-184.
Epub 2020 Jan 8
doi: 10.1016/j.jchf.2019.09.009.
<span class="bold">PMID: </span><a href="/pubmed/31926856" target="_blank">31926856</a><a href="/pmc/articles/PMC7058514" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31806129">Echocardiographic Features of Patients With Heart Failure and Preserved Left Ventricular Ejection Fraction.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shah AM,
Cikes M,
Prasad N,
Li G,
Getchevski S,
Claggett B,
Rizkala A,
Lukashevich I,
O'Meara E,
Ryan JJ,
Shah SJ,
Mullens W,
Zile MR,
Lam CSP,
McMurray JJV,
Solomon SD;
PARAGON-HF Investigators</span><br />
<span class="medgenPMjournal">J Am Coll Cardiol</span>
2019 Dec 10;74(23):2858-2873.
doi: 10.1016/j.jacc.2019.09.063.
<span class="bold">PMID: </span><a href="/pubmed/31806129" target="_blank">31806129</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Left%20atrial%20enlargement%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 (462)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38551534">The Evolving Concept of Secondary Mitral Regurgitation Phenotypes: Lessons From the M-TEER Trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stolz L,
Doldi PM,
Sannino A,
Hausleiter J,
Grayburn PA</span><br />
<span class="medgenPMjournal">JACC Cardiovasc Imaging</span>
2024 Jun;17(6):659-668.
Epub 2024 Mar 27
doi: 10.1016/j.jcmg.2024.01.012.
<span class="bold">PMID: </span><a href="/pubmed/38551534" target="_blank">38551534</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36417632">Comment on "Role of monocyte to high-density lipoprotein cholesterol ratio in predicting left atrial enlargement in hypertensive patients".</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Qiu L,
He LP,
Liu CW</span><br />
<span class="medgenPMjournal">Rev Assoc Med Bras (1992)</span>
2022;68(10):1358-1359.
Epub 2022 Nov 21
doi: 10.1590/1806-9282.20220381.
<span class="bold">PMID: </span><a href="/pubmed/36417632" target="_blank">36417632</a><a href="/pmc/articles/PMC9683920" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34542152">A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Park J,
Packard EA,
Levin MG,
Judy RL;
Regeneron Genetics Center,
Damrauer SM,
Day SM,
Ritchie MD,
Rader DJ</span><br />
<span class="medgenPMjournal">Hum Mol Genet</span>
2022 Mar 3;31(5):827-837.
doi: 10.1093/hmg/ddab249.
<span class="bold">PMID: </span><a href="/pubmed/34542152" target="_blank">34542152</a><a href="/pmc/articles/PMC8895730" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31806129">Echocardiographic Features of Patients With Heart Failure and Preserved Left Ventricular Ejection Fraction.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shah AM,
Cikes M,
Prasad N,
Li G,
Getchevski S,
Claggett B,
Rizkala A,
Lukashevich I,
O'Meara E,
Ryan JJ,
Shah SJ,
Mullens W,
Zile MR,
Lam CSP,
McMurray JJV,
Solomon SD;
PARAGON-HF Investigators</span><br />
<span class="medgenPMjournal">J Am Coll Cardiol</span>
2019 Dec 10;74(23):2858-2873.
doi: 10.1016/j.jacc.2019.09.063.
<span class="bold">PMID: </span><a href="/pubmed/31806129" target="_blank">31806129</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16084186">Detection of left atrial enlargement using hand-carried ultrasound devices to screen for cardiac abnormalities.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kimura BJ,
Fowler SJ,
Fergus TS,
Minuto JJ,
Amundson SA,
Gilpin EA,
DeMaria AN</span><br />
<span class="medgenPMjournal">Am J Med</span>
2005 Aug;118(8):912-6.
doi: 10.1016/j.amjmed.2005.03.036.
<span class="bold">PMID: </span><a href="/pubmed/16084186" target="_blank">16084186</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Left%20atrial%20enlargement%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 (456)</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>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/35065879">Prevalence of markers of atrial cardiomyopathy in embolic stroke of undetermined source: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stalikas N,
Doundoulakis I,
Karagiannidis E,
Kartas A,
Gavriilaki M,
Sofidis G,
Panteris E,
Papazoglou AS,
Haidich AB,
Sianos G,
Giannakoulas G</span><br />
<span class="medgenPMjournal">Eur J Intern Med</span>
2022 May;99:38-44.
Epub 2022 Jan 20
doi: 10.1016/j.ejim.2022.01.024.
<span class="bold">PMID: </span><a href="/pubmed/35065879" target="_blank">35065879</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29407076">The prognostic value of coronary endothelial and microvascular dysfunction in subjects with normal or non-obstructive coronary artery disease: A systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brainin P,
Frestad D,
Prescott E</span><br />
<span class="medgenPMjournal">Int J Cardiol</span>
2018 Mar 1;254:1-9.
Epub 2018 Jan 28
doi: 10.1016/j.ijcard.2017.10.052.
<span class="bold">PMID: </span><a href="/pubmed/29407076" target="_blank">29407076</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27357469">Incidence, risk factors and prognosis of postoperative atrial arrhythmias after lung transplantation: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fan J,
Zhou K,
Li S,
Du H,
Che G</span><br />
<span class="medgenPMjournal">Interact Cardiovasc Thorac Surg</span>
2016 Nov;23(5):790-799.
Epub 2016 Jun 29
doi: 10.1093/icvts/ivw208.
<span class="bold">PMID: </span><a href="/pubmed/27357469" target="_blank">27357469</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27075168">Left atrial size and risk of stroke in patients in sinus rhythm. A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Overvad TF,
Nielsen PB,
Larsen TB,
Søgaard P</span><br />
<span class="medgenPMjournal">Thromb Haemost</span>
2016 Aug 1;116(2):206-19.
Epub 2016 Apr 14
doi: 10.1160/TH15-12-0923.
<span class="bold">PMID: </span><a href="/pubmed/27075168" target="_blank">27075168</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23388831">Prevalence of echocardiographic left-atrial enlargement in hypertension: a systematic review of recent clinical studies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cuspidi C,
Rescaldani M,
Sala C</span><br />
<span class="medgenPMjournal">Am J Hypertens</span>
2013 Apr;26(4):456-64.
Epub 2013 Feb 6
doi: 10.1093/ajh/hpt001.
<span class="bold">PMID: </span><a href="/pubmed/23388831" target="_blank">23388831</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Left%20atrial%20enlargement%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 (7)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Left%20atrial%20enlargement" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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