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Identification of Large Families in Early Repolarization Syndrome
Objectives The aim of this study was to identify families affected by early repolarization syndrome (ERS) and to determine the mode of transmission of the disease. Background Early repolarization (ER) has recently been linked to idiopathic ventricular fibrillation. Familial inheritance of the diseas...
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| Published in: | Journal of the American College of Cardiology 2013-01, Vol.61 (2), p.164-172 |
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| creator | Gourraud, Jean-Baptiste, MD Le Scouarnec, Solena, PhD Sacher, Frederic, MD Chatel, Stéphanie, PhD Derval, Nicolas, MD Portero, Vincent, MS Chavernac, Pascal, MD Sandoval, Juan E., PhD Mabo, Philippe, MD, PhD Redon, Richard, PhD Schott, Jean-Jacques, PhD Le Marec, Hervé, MD, PhD Haïssaguerre, Michel, MD, PhD Probst, Vincent, MD, PhD |
| description | Objectives The aim of this study was to identify families affected by early repolarization syndrome (ERS) and to determine the mode of transmission of the disease. Background Early repolarization (ER) has recently been linked to idiopathic ventricular fibrillation. Familial inheritance of the disease has been suggested but not demonstrated. Methods We screened relatives of 4 families affected by ERS. ER was defined as a distinct J-wave in at least 2 consecutive leads and a 1-mm amplitude above baseline. The Valsalva maneuver was performed in affected and unaffected family members to decrease heart rate and thus increase or reveal an ER pattern. Results Twenty-two sudden cardiac deaths occurred in the 4 families including 10 before 35 years of age. In the 4 families, the prevalence of ER was 56%, 34%, 61%, and 33% of, respectively, 30, 82, 29, and 30 screened relatives. In these families, transmission of an ER pattern is compatible with an autosomal dominant mode of inheritance. All probands were screened for genes identified in ERS, and no mutation was found. The Valsalva maneuver was performed in 80 relatives, resulting in increased J-wave amplitude for 17 of 20 affected patients and revealing an ER pattern in 17 relatives in whom 5 are obligate transmitters of an ER pattern. Conclusions ERS can be inherited through autosomal dominant transmission and should be considered a real inherited arrhythmia syndrome. Familial investigation can be facilitated by using the Valsalva maneuver to reveal the electrocardiographic pattern in family members. The prognosis value of this test remains to be assessed. |
| doi_str_mv | 10.1016/j.jacc.2012.09.040 |
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Background Early repolarization (ER) has recently been linked to idiopathic ventricular fibrillation. Familial inheritance of the disease has been suggested but not demonstrated. Methods We screened relatives of 4 families affected by ERS. ER was defined as a distinct J-wave in at least 2 consecutive leads and a 1-mm amplitude above baseline. The Valsalva maneuver was performed in affected and unaffected family members to decrease heart rate and thus increase or reveal an ER pattern. Results Twenty-two sudden cardiac deaths occurred in the 4 families including 10 before 35 years of age. In the 4 families, the prevalence of ER was 56%, 34%, 61%, and 33% of, respectively, 30, 82, 29, and 30 screened relatives. In these families, transmission of an ER pattern is compatible with an autosomal dominant mode of inheritance. All probands were screened for genes identified in ERS, and no mutation was found. The Valsalva maneuver was performed in 80 relatives, resulting in increased J-wave amplitude for 17 of 20 affected patients and revealing an ER pattern in 17 relatives in whom 5 are obligate transmitters of an ER pattern. Conclusions ERS can be inherited through autosomal dominant transmission and should be considered a real inherited arrhythmia syndrome. Familial investigation can be facilitated by using the Valsalva maneuver to reveal the electrocardiographic pattern in family members. The prognosis value of this test remains to be assessed.</description><identifier>ISSN: 0735-1097</identifier><identifier>EISSN: 1558-3597</identifier><identifier>DOI: 10.1016/j.jacc.2012.09.040</identifier><identifier>PMID: 23273290</identifier><identifier>CODEN: JACCDI</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>Adolescent ; Adult ; Age ; Aged ; Arrhythmias, Cardiac ; Arrhythmias, Cardiac - diagnosis ; Arrhythmias, Cardiac - genetics ; Bioengineering ; Biological and medical sciences ; Cardiac arrhythmia ; Cardiology ; Cardiology and cardiovascular system ; Cardiology. Vascular system ; Cardiovascular ; Cardiovascular disease ; Computer Science ; Death, Sudden, Cardiac ; Death, Sudden, Cardiac - etiology ; early repolarization syndrome ; Electrocardiography ; Engineering Sciences ; familial inheritance ; Female ; Heart ; Heart attacks ; Heart Rate ; Heart Rate - physiology ; Human health and pathology ; Humans ; Internal Medicine ; Life Sciences ; Male ; Medical sciences ; Middle Aged ; Patients ; Pedigree ; Population ; Signal and Image processing ; Syndrome ; Valsalva Maneuver ; ventricular fibrillation ; Young Adult</subject><ispartof>Journal of the American College of Cardiology, 2013-01, Vol.61 (2), p.164-172</ispartof><rights>American College of Cardiology Foundation</rights><rights>2013 American College of Cardiology Foundation</rights><rights>2014 INIST-CNRS</rights><rights>Copyright © 2013 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.</rights><rights>Copyright Elsevier Limited Jan 15, 2013</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c580t-a2c023e8591119020c55b43a482988ca5d074a73f9c08178be57b7a64e762a2d3</citedby><cites>FETCH-LOGICAL-c580t-a2c023e8591119020c55b43a482988ca5d074a73f9c08178be57b7a64e762a2d3</cites><orcidid>0000-0003-0677-5627 ; 0000-0002-9578-9475 ; 0000-0002-6961-2131 ; 0000-0001-7751-2280</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,315,786,790,891,27957,27958</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=27158893$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23273290$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.science/hal-00879642$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Gourraud, Jean-Baptiste, MD</creatorcontrib><creatorcontrib>Le Scouarnec, Solena, PhD</creatorcontrib><creatorcontrib>Sacher, Frederic, MD</creatorcontrib><creatorcontrib>Chatel, Stéphanie, PhD</creatorcontrib><creatorcontrib>Derval, Nicolas, MD</creatorcontrib><creatorcontrib>Portero, Vincent, MS</creatorcontrib><creatorcontrib>Chavernac, Pascal, MD</creatorcontrib><creatorcontrib>Sandoval, Juan E., PhD</creatorcontrib><creatorcontrib>Mabo, Philippe, MD, PhD</creatorcontrib><creatorcontrib>Redon, Richard, PhD</creatorcontrib><creatorcontrib>Schott, Jean-Jacques, PhD</creatorcontrib><creatorcontrib>Le Marec, Hervé, MD, PhD</creatorcontrib><creatorcontrib>Haïssaguerre, Michel, MD, PhD</creatorcontrib><creatorcontrib>Probst, Vincent, MD, PhD</creatorcontrib><title>Identification of Large Families in Early Repolarization Syndrome</title><title>Journal of the American College of Cardiology</title><addtitle>J Am Coll Cardiol</addtitle><description>Objectives The aim of this study was to identify families affected by early repolarization syndrome (ERS) and to determine the mode of transmission of the disease. Background Early repolarization (ER) has recently been linked to idiopathic ventricular fibrillation. Familial inheritance of the disease has been suggested but not demonstrated. Methods We screened relatives of 4 families affected by ERS. ER was defined as a distinct J-wave in at least 2 consecutive leads and a 1-mm amplitude above baseline. The Valsalva maneuver was performed in affected and unaffected family members to decrease heart rate and thus increase or reveal an ER pattern. Results Twenty-two sudden cardiac deaths occurred in the 4 families including 10 before 35 years of age. In the 4 families, the prevalence of ER was 56%, 34%, 61%, and 33% of, respectively, 30, 82, 29, and 30 screened relatives. In these families, transmission of an ER pattern is compatible with an autosomal dominant mode of inheritance. All probands were screened for genes identified in ERS, and no mutation was found. The Valsalva maneuver was performed in 80 relatives, resulting in increased J-wave amplitude for 17 of 20 affected patients and revealing an ER pattern in 17 relatives in whom 5 are obligate transmitters of an ER pattern. Conclusions ERS can be inherited through autosomal dominant transmission and should be considered a real inherited arrhythmia syndrome. Familial investigation can be facilitated by using the Valsalva maneuver to reveal the electrocardiographic pattern in family members. The prognosis value of this test remains to be assessed.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Age</subject><subject>Aged</subject><subject>Arrhythmias, Cardiac</subject><subject>Arrhythmias, Cardiac - diagnosis</subject><subject>Arrhythmias, Cardiac - genetics</subject><subject>Bioengineering</subject><subject>Biological and medical sciences</subject><subject>Cardiac arrhythmia</subject><subject>Cardiology</subject><subject>Cardiology and cardiovascular system</subject><subject>Cardiology. Vascular system</subject><subject>Cardiovascular</subject><subject>Cardiovascular disease</subject><subject>Computer Science</subject><subject>Death, Sudden, Cardiac</subject><subject>Death, Sudden, Cardiac - etiology</subject><subject>early repolarization syndrome</subject><subject>Electrocardiography</subject><subject>Engineering Sciences</subject><subject>familial inheritance</subject><subject>Female</subject><subject>Heart</subject><subject>Heart attacks</subject><subject>Heart Rate</subject><subject>Heart Rate - physiology</subject><subject>Human health and pathology</subject><subject>Humans</subject><subject>Internal Medicine</subject><subject>Life Sciences</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Patients</subject><subject>Pedigree</subject><subject>Population</subject><subject>Signal and Image processing</subject><subject>Syndrome</subject><subject>Valsalva Maneuver</subject><subject>ventricular fibrillation</subject><subject>Young Adult</subject><issn>0735-1097</issn><issn>1558-3597</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><recordid>eNp9klGL1DAQx4Mo3nr6BXyQgvjgQ-skaZoE5GA57ryDBcHT55BNp5rabdake7B-elO63oEPPgXC7z-Z-WUIeU2hokCbD33VW-cqBpRVoCuo4QlZUSFUyYWWT8kKJBclBS3PyIuUegBoFNXPyRnjTHKmYUXWty2Ok--8s5MPYxG6YmPjdyyu7c4PHlPhx-LKxuFYfMF9GGz0vxfy7ji2MezwJXnW2SHhq9N5Tr5dX329vCk3nz_dXq43pRMKptIyB4yjEppSqoGBE2Jbc1srppVyVrQgayt5px0oKtUWhdxK29QoG2ZZy8_J-6XuDzuYffQ7G48mWG9u1hsz3wEoqZua3dPMvl3YfQy_Dpgm04dDHHN7hja1yI644pliC-ViSCli91CWgpkNm97Mhs1s2IA22XAOvTmVPmx32D5E_irNwLsTYJOzQxft6Hx65CQVSun59Y8Lh1navcdokvM4Omx9RDeZNvj_93HxT9wNfszfOPzEI6bHeU3KGXM378K8CpSB4NAI_geVFKrS</recordid><startdate>20130115</startdate><enddate>20130115</enddate><creator>Gourraud, Jean-Baptiste, MD</creator><creator>Le Scouarnec, Solena, PhD</creator><creator>Sacher, Frederic, MD</creator><creator>Chatel, Stéphanie, PhD</creator><creator>Derval, Nicolas, MD</creator><creator>Portero, Vincent, MS</creator><creator>Chavernac, Pascal, MD</creator><creator>Sandoval, Juan E., PhD</creator><creator>Mabo, Philippe, MD, PhD</creator><creator>Redon, Richard, PhD</creator><creator>Schott, Jean-Jacques, PhD</creator><creator>Le Marec, Hervé, MD, PhD</creator><creator>Haïssaguerre, Michel, MD, PhD</creator><creator>Probst, Vincent, MD, PhD</creator><general>Elsevier Inc</general><general>Elsevier</general><general>Elsevier Limited</general><scope>6I.</scope><scope>AAFTH</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>7TK</scope><scope>H94</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>1XC</scope><orcidid>https://orcid.org/0000-0003-0677-5627</orcidid><orcidid>https://orcid.org/0000-0002-9578-9475</orcidid><orcidid>https://orcid.org/0000-0002-6961-2131</orcidid><orcidid>https://orcid.org/0000-0001-7751-2280</orcidid></search><sort><creationdate>20130115</creationdate><title>Identification of Large Families in Early Repolarization Syndrome</title><author>Gourraud, Jean-Baptiste, MD ; Le Scouarnec, Solena, PhD ; Sacher, Frederic, MD ; Chatel, Stéphanie, PhD ; Derval, Nicolas, MD ; Portero, Vincent, MS ; Chavernac, Pascal, MD ; Sandoval, Juan E., PhD ; Mabo, Philippe, MD, PhD ; Redon, Richard, PhD ; Schott, Jean-Jacques, PhD ; Le Marec, Hervé, MD, PhD ; Haïssaguerre, Michel, MD, PhD ; Probst, Vincent, MD, PhD</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c580t-a2c023e8591119020c55b43a482988ca5d074a73f9c08178be57b7a64e762a2d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Age</topic><topic>Aged</topic><topic>Arrhythmias, Cardiac</topic><topic>Arrhythmias, Cardiac - diagnosis</topic><topic>Arrhythmias, Cardiac - genetics</topic><topic>Bioengineering</topic><topic>Biological and medical sciences</topic><topic>Cardiac arrhythmia</topic><topic>Cardiology</topic><topic>Cardiology and cardiovascular system</topic><topic>Cardiology. Vascular system</topic><topic>Cardiovascular</topic><topic>Cardiovascular disease</topic><topic>Computer Science</topic><topic>Death, Sudden, Cardiac</topic><topic>Death, Sudden, Cardiac - etiology</topic><topic>early repolarization syndrome</topic><topic>Electrocardiography</topic><topic>Engineering Sciences</topic><topic>familial inheritance</topic><topic>Female</topic><topic>Heart</topic><topic>Heart attacks</topic><topic>Heart Rate</topic><topic>Heart Rate - physiology</topic><topic>Human health and pathology</topic><topic>Humans</topic><topic>Internal Medicine</topic><topic>Life Sciences</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Patients</topic><topic>Pedigree</topic><topic>Population</topic><topic>Signal and Image processing</topic><topic>Syndrome</topic><topic>Valsalva Maneuver</topic><topic>ventricular fibrillation</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gourraud, Jean-Baptiste, MD</creatorcontrib><creatorcontrib>Le Scouarnec, Solena, PhD</creatorcontrib><creatorcontrib>Sacher, Frederic, MD</creatorcontrib><creatorcontrib>Chatel, Stéphanie, PhD</creatorcontrib><creatorcontrib>Derval, Nicolas, MD</creatorcontrib><creatorcontrib>Portero, Vincent, MS</creatorcontrib><creatorcontrib>Chavernac, Pascal, MD</creatorcontrib><creatorcontrib>Sandoval, Juan E., PhD</creatorcontrib><creatorcontrib>Mabo, Philippe, MD, PhD</creatorcontrib><creatorcontrib>Redon, Richard, PhD</creatorcontrib><creatorcontrib>Schott, Jean-Jacques, PhD</creatorcontrib><creatorcontrib>Le Marec, Hervé, MD, PhD</creatorcontrib><creatorcontrib>Haïssaguerre, Michel, MD, PhD</creatorcontrib><creatorcontrib>Probst, Vincent, MD, PhD</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>Hyper Article en Ligne (HAL)</collection><jtitle>Journal of the American College of Cardiology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gourraud, Jean-Baptiste, MD</au><au>Le Scouarnec, Solena, PhD</au><au>Sacher, Frederic, MD</au><au>Chatel, Stéphanie, PhD</au><au>Derval, Nicolas, MD</au><au>Portero, Vincent, MS</au><au>Chavernac, Pascal, MD</au><au>Sandoval, Juan E., PhD</au><au>Mabo, Philippe, MD, PhD</au><au>Redon, Richard, PhD</au><au>Schott, Jean-Jacques, PhD</au><au>Le Marec, Hervé, MD, PhD</au><au>Haïssaguerre, Michel, MD, PhD</au><au>Probst, Vincent, MD, PhD</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Identification of Large Families in Early Repolarization Syndrome</atitle><jtitle>Journal of the American College of Cardiology</jtitle><addtitle>J Am Coll Cardiol</addtitle><date>2013-01-15</date><risdate>2013</risdate><volume>61</volume><issue>2</issue><spage>164</spage><epage>172</epage><pages>164-172</pages><issn>0735-1097</issn><eissn>1558-3597</eissn><coden>JACCDI</coden><abstract>Objectives The aim of this study was to identify families affected by early repolarization syndrome (ERS) and to determine the mode of transmission of the disease. Background Early repolarization (ER) has recently been linked to idiopathic ventricular fibrillation. Familial inheritance of the disease has been suggested but not demonstrated. Methods We screened relatives of 4 families affected by ERS. ER was defined as a distinct J-wave in at least 2 consecutive leads and a 1-mm amplitude above baseline. The Valsalva maneuver was performed in affected and unaffected family members to decrease heart rate and thus increase or reveal an ER pattern. Results Twenty-two sudden cardiac deaths occurred in the 4 families including 10 before 35 years of age. In the 4 families, the prevalence of ER was 56%, 34%, 61%, and 33% of, respectively, 30, 82, 29, and 30 screened relatives. In these families, transmission of an ER pattern is compatible with an autosomal dominant mode of inheritance. All probands were screened for genes identified in ERS, and no mutation was found. The Valsalva maneuver was performed in 80 relatives, resulting in increased J-wave amplitude for 17 of 20 affected patients and revealing an ER pattern in 17 relatives in whom 5 are obligate transmitters of an ER pattern. Conclusions ERS can be inherited through autosomal dominant transmission and should be considered a real inherited arrhythmia syndrome. Familial investigation can be facilitated by using the Valsalva maneuver to reveal the electrocardiographic pattern in family members. The prognosis value of this test remains to be assessed.</abstract><cop>New York, NY</cop><pub>Elsevier Inc</pub><pmid>23273290</pmid><doi>10.1016/j.jacc.2012.09.040</doi><tpages>9</tpages><orcidid>https://orcid.org/0000-0003-0677-5627</orcidid><orcidid>https://orcid.org/0000-0002-9578-9475</orcidid><orcidid>https://orcid.org/0000-0002-6961-2131</orcidid><orcidid>https://orcid.org/0000-0001-7751-2280</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Adult Age Aged Arrhythmias, Cardiac Arrhythmias, Cardiac - diagnosis Arrhythmias, Cardiac - genetics Bioengineering Biological and medical sciences Cardiac arrhythmia Cardiology Cardiology and cardiovascular system Cardiology. Vascular system Cardiovascular Cardiovascular disease Computer Science Death, Sudden, Cardiac Death, Sudden, Cardiac - etiology early repolarization syndrome Electrocardiography Engineering Sciences familial inheritance Female Heart Heart attacks Heart Rate Heart Rate - physiology Human health and pathology Humans Internal Medicine Life Sciences Male Medical sciences Middle Aged Patients Pedigree Population Signal and Image processing Syndrome Valsalva Maneuver ventricular fibrillation Young Adult |
| title | Identification of Large Families in Early Repolarization Syndrome |
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