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<meta name="keywords" content="C2751083, brgda8, brugada syndrome 8, brugada syndrome caused by mutation in hcn4, brugada syndrome type 8, disease or syndrome, hcn4, hcn4 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=413928
|
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ConceptID=C2751083
|
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-->
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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 8<span class="h1sub">(BRGDA8)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413928</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."><span class="highlight" style="background-color:">C2751083</span></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>BRGDA8</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="HCN4 - ID: 10021 - NCBI Gene" href="/gene/10021" class="medgenPMinfo">HCN4</a> (15q24.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013148" target="_blank">MONDO:0013148</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/613123" target="_blank">613123</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/613123">http://www.omim.org/entry/613123</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_12068"><div><strong>Ventricular tachycardia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12068</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.">C0042514</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/12068">Feature record</a> | <a href="/medgen?term=%22Ventricular%20tachycardia%22%5BClinical%20Features%5D%20OR%2012068%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_99256"><div><strong>ST segment elevation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99256</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.">C0520886</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99256">Feature record</a> | <a href="/medgen?term=%22ST%20segment%20elevation%22%5BClinical%20Features%5D%20OR%2099256%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><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_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_99256" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ST segment elevation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12068" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular tachycardia</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="TLclosed"><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"><a href="/medgen/382031" ref="tree=GTR&ncbi_uid=382031&link_uid=382031" title="View MedGen record for 'Brugada syndrome 2'">Brugada syndrome 2</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=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="matched_ds"><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">Brugada syndrome 8</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 8</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/25691556">Management of ventricular arrhythmias in suspected channelopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Obeyesekere MN,
|
||
Antzelevitch C,
|
||
Krahn AD</span><br />
|
||
<span class="medgenPMjournal">Circ Arrhythm Electrophysiol</span>
|
||
2015 Feb;8(1):221-31.
|
||
doi: 10.1161/CIRCEP.114.002321.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25691556" target="_blank">25691556</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21787999">HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ackerman MJ,
|
||
Priori SG,
|
||
Willems S,
|
||
Berul C,
|
||
Brugada R,
|
||
Calkins H,
|
||
Camm AJ,
|
||
Ellinor PT,
|
||
Gollob M,
|
||
Hamilton R,
|
||
Hershberger RE,
|
||
Judge DP,
|
||
Le Marec H,
|
||
McKenna WJ,
|
||
Schulze-Bahr E,
|
||
Semsarian C,
|
||
Towbin JA,
|
||
Watkins H,
|
||
Wilde A,
|
||
Wolpert C,
|
||
Zipes DP</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2011 Aug;8(8):1308-39.
|
||
doi: 10.1016/j.hrthm.2011.05.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21787999" target="_blank">21787999</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20129283">An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kapplinger JD,
|
||
Tester DJ,
|
||
Alders M,
|
||
Benito B,
|
||
Berthet M,
|
||
Brugada J,
|
||
Brugada P,
|
||
Fressart V,
|
||
Guerchicoff A,
|
||
Harris-Kerr C,
|
||
Kamakura S,
|
||
Kyndt F,
|
||
Koopmann TT,
|
||
Miyamoto Y,
|
||
Pfeiffer R,
|
||
Pollevick GD,
|
||
Probst V,
|
||
Zumhagen S,
|
||
Vatta M,
|
||
Towbin JA,
|
||
Shimizu W,
|
||
Schulze-Bahr E,
|
||
Antzelevitch C,
|
||
Salisbury BA,
|
||
Guicheney P,
|
||
Wilde AA,
|
||
Brugada R,
|
||
Schott JJ,
|
||
Ackerman MJ</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2010 Jan;7(1):33-46.
|
||
Epub 2009 Oct 8
|
||
doi: 10.1016/j.hrthm.2009.09.069.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20129283" target="_blank">20129283</a><a href="/pmc/articles/PMC2822446" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(brugada%20syndrome%208)%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 (47)</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/35331438">Brugada Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krahn AD,
|
||
Behr ER,
|
||
Hamilton R,
|
||
Probst V,
|
||
Laksman Z,
|
||
Han HC</span><br />
|
||
<span class="medgenPMjournal">JACC Clin Electrophysiol</span>
|
||
2022 Mar;8(3):386-405.
|
||
doi: 10.1016/j.jacep.2021.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35331438" target="_blank">35331438</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32684122">Brugada syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Korlipara H,
|
||
Korlipara G,
|
||
Pentyala S</span><br />
|
||
<span class="medgenPMjournal">Acta Cardiol</span>
|
||
2021 Oct;76(8):805-824.
|
||
Epub 2020 Jul 20
|
||
doi: 10.1080/00015385.2020.1790823.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32684122" target="_blank">32684122</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26920201">Brugada Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Refaat MM,
|
||
Hotait M,
|
||
Scheinman M</span><br />
|
||
<span class="medgenPMjournal">Card Electrophysiol Clin</span>
|
||
2016 Mar;8(1):239-45.
|
||
doi: 10.1016/j.ccep.2015.10.036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26920201" target="_blank">26920201</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22749026">Repolarization syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhatia A,
|
||
Sra J,
|
||
Akhtar M</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Cardiol</span>
|
||
2012 Aug;37(8):317-62.
|
||
doi: 10.1016/j.cpcardiol.2012.03.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22749026" target="_blank">22749026</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20129283">An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.</a></div>
|
||
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brugada%20syndrome%208%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 (195)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="portlet_content ln"><span class="medgenPMauthor">Krahn AD,
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Behr ER,
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Hamilton R,
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Probst V,
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Laksman Z,
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Han HC</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/35331438" target="_blank">35331438</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32684122">Brugada syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Korlipara H,
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<div class="portlet_content ln"><span class="medgenPMauthor">Kapplinger JD,
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Ye D,
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Tester DJ,
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<span class="bold">PMID: </span><a href="/pubmed/25904541" target="_blank">25904541</a><a href="/pmc/articles/PMC4878676" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brugada%20syndrome%208%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 (310)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38445836">Implantable loop recorders in patients with Brugada syndrome: the BruLoop study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bergonti M,
|
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Sacher F,
|
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Arbelo E,
|
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Crotti L,
|
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Sabbag A,
|
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Casella M,
|
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Saenen J,
|
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Rossi A,
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Monaco C,
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Pannone L,
|
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Compagnucci P,
|
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Russo V,
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Heller E,
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Santoro A,
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Berne P,
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Bisignani A,
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Baldi E,
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Van Leuven O,
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Migliore F,
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Marcon L,
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Dagradi F,
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Sfondrini I,
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Landra F,
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Comune A,
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Cespón-Fernández M,
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Nesti M,
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Santoro F,
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Magnocavallo M,
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Vicentini A,
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Conti S,
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Ribatti V,
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Brugada P,
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de Asmundis C,
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Brugada J,
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Tondo C,
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Schwartz PJ,
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Haissaguerre M,
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Auricchio A,
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Conte G</span><br />
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<span class="medgenPMjournal">Eur Heart J</span>
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doi: 10.1093/eurheartj/ehae133.
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<span class="bold">PMID: </span><a href="/pubmed/38445836" target="_blank">38445836</a><a href="/pmc/articles/PMC10998731" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32684122">Brugada syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Korlipara H,
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Korlipara G,
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Pentyala S</span><br />
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<span class="medgenPMjournal">Acta Cardiol</span>
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2021 Oct;76(8):805-824.
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Epub 2020 Jul 20
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|
||
<span class="bold">PMID: </span><a href="/pubmed/32684122" target="_blank">32684122</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30193851">Clinical presentation and follow-up of women affected by Brugada syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berthome P,
|
||
Tixier R,
|
||
Briand J,
|
||
Geoffroy O,
|
||
Babuty D,
|
||
Mansourati J,
|
||
Jesel L,
|
||
Dupuis JM,
|
||
Bru P,
|
||
Kyndt F,
|
||
Guyomarch B,
|
||
Thollet A,
|
||
Behar N,
|
||
Mabo P,
|
||
Sacher F,
|
||
Probst V,
|
||
Gourraud JB</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2019 Feb;16(2):260-267.
|
||
Epub 2018 Sep 5
|
||
doi: 10.1016/j.hrthm.2018.08.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30193851" target="_blank">30193851</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25904541">Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kapplinger JD,
|
||
Giudicessi JR,
|
||
Ye D,
|
||
Tester DJ,
|
||
Callis TE,
|
||
Valdivia CR,
|
||
Makielski JC,
|
||
Wilde AA,
|
||
Ackerman MJ</span><br />
|
||
<span class="medgenPMjournal">Circ Cardiovasc Genet</span>
|
||
2015 Aug;8(4):582-95.
|
||
Epub 2015 Apr 22
|
||
doi: 10.1161/CIRCGENETICS.114.000831.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25904541" target="_blank">25904541</a><a href="/pmc/articles/PMC4878676" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21762670">Electrophysiologic testing predicts events in Brugada syndrome patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brugada J,
|
||
Brugada R,
|
||
Brugada P</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2011 Oct;8(10):1595-7.
|
||
Epub 2011 Jul 12
|
||
doi: 10.1016/j.hrthm.2011.07.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21762670" target="_blank">21762670</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brugada%20syndrome%208%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 (285)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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/37355026">Predicting arrhythmic event score in Brugada syndrome: Worldwide pooled analysis with internal and external validation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rattanawong P,
|
||
Mattanapojanat N,
|
||
Mead-Harvey C,
|
||
Van Der Walt C,
|
||
Kewcharoen J,
|
||
Kanitsoraphan C,
|
||
Vutthikraivit W,
|
||
Prasitlumkum N,
|
||
Putthapiban P,
|
||
Chintanavilas K,
|
||
Sahasthas D,
|
||
Ngarmukos T,
|
||
Thakkinstian A,
|
||
Sorajja D,
|
||
Makarawate P,
|
||
Shen WK</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2023 Oct;20(10):1358-1367.
|
||
Epub 2023 Jun 23
|
||
doi: 10.1016/j.hrthm.2023.06.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37355026" target="_blank">37355026</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33090608">Brugada syndrome and syncope: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mascia G,
|
||
Della Bona R,
|
||
Ameri P,
|
||
Canepa M,
|
||
Porto I,
|
||
Brignole M</span><br />
|
||
<span class="medgenPMjournal">J Cardiovasc Electrophysiol</span>
|
||
2020 Dec;31(12):3334-3338.
|
||
Epub 2020 Nov 1
|
||
doi: 10.1111/jce.14787.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33090608" target="_blank">33090608</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32573844">The utility of drug challenge testing in Brugada syndrome: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rattanawong P,
|
||
Kewcharoen J,
|
||
Kanitsoraphan C,
|
||
Vutthikraivit W,
|
||
Putthapiban P,
|
||
Prasitlumkum N,
|
||
Mekraksakit P,
|
||
Mekritthikrai R,
|
||
Chung EH</span><br />
|
||
<span class="medgenPMjournal">J Cardiovasc Electrophysiol</span>
|
||
2020 Sep;31(9):2474-2483.
|
||
Epub 2020 Jul 9
|
||
doi: 10.1111/jce.14631.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32573844" target="_blank">32573844</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31836966">Restitution metrics in Brugada syndrome: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tse G,
|
||
Lee S,
|
||
Gong M,
|
||
Mililis P,
|
||
Asvestas D,
|
||
Bazoukis G,
|
||
Roever L,
|
||
Jeevaratnam K,
|
||
Hothi SS,
|
||
Li KHC,
|
||
Liu T,
|
||
Letsas KP</span><br />
|
||
<span class="medgenPMjournal">J Interv Card Electrophysiol</span>
|
||
2020 Mar;57(2):319-327.
|
||
Epub 2019 Dec 14
|
||
doi: 10.1007/s10840-019-00675-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31836966" target="_blank">31836966</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29572085">Ablation strategies for the management of symptomatic Brugada syndrome: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fernandes GC,
|
||
Fernandes A,
|
||
Cardoso R,
|
||
Nasi G,
|
||
Rivera M,
|
||
Mitrani RD,
|
||
Goldberger JJ</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2018 Aug;15(8):1140-1147.
|
||
Epub 2018 Mar 20
|
||
doi: 10.1016/j.hrthm.2018.03.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29572085" target="_blank">29572085</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brugada%20syndrome%208%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 (14)</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>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2751083%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (33)</a></li>
|
||
<li><a href="/gtr/tests?term=C2751083%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2751083%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2751083%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2751083%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (50)</a></li>
|
||
<li><a href="/gtr/tests?term=C2751083%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (11)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2751083%5bDISCUI%5d" target="_blank">See all (52)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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>
|
||
<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=613123" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Brugada%20syndrome%208" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(brugada%20syndrome%208)%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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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=605206" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=10021[geneid]" target="_blank">View HCN4 variations in ClinVar</a></li><li><a href="/nuccore/215490070" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=613123" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/brugada_syndrome_8" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Brugada%20syndrome%208" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15622/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301690" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Brugada%20syndrome%208" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Brugada%20syndrome%208%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=413928" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=413928" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2751083[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2751083[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=413928" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=413928" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=413928" ref="log$=recordlinks">OMIM(Genes)</a>
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