Apical left ventricular aneurysm without atrio‐ventricular block due to a lamin A/C gene mutation
Background: Mutations in LMNA gene encoding two ubiquitously expressed nuclear proteins, lamins A and C, give rise to up to 7 different pathologies affecting specific tissues. Three of these disorders affect cardiac and/or skeletal muscles with atrio‐ventricular conduction disturbances, dilated card...
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| Veröffentlicht in: | European journal of heart failure 2003-12, Vol.5 (6), p.821-825 |
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| container_title | European journal of heart failure |
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| creator | Forissier, Jean‐François Bonne, Gisèle Bouchier, Christiane Duboscq‐Bidot, Laetitia Richard, Pascale Wisnewski, Claudine Briault, Sylvain Moraine, Claude Dubourg, Olivier Schwartz, Ketty Komajda, Michel |
| description | Background:
Mutations in LMNA gene encoding two ubiquitously expressed nuclear proteins, lamins A and C, give rise to up to 7 different pathologies affecting specific tissues. Three of these disorders affect cardiac and/or skeletal muscles with atrio‐ventricular conduction disturbances, dilated cardiomyopathy and sudden cardiac death as common features.
Results:
A new LMNA mutation (1621C>T, R541C) was found in two members of a French family with a history of ventricular rhythm disturbances and an uncommon form of systolic left ventricle dysfunction. The two patients: the proband and his daughter, were affected and exhibited an atypical form of dilated cardiomyopathy with an unexplained left ventricle aneurysm revealed by ventricular rhythm disturbances without atrio‐ventricular block.
Conclusion:
This finding reinforces the highly variable phenotypic expression of LMNA mutation and emphasizes the fact that LMNA mutations can be associated with different cardiac phenotypes. |
| doi_str_mv | 10.1016/S1388-9842(03)00149-1 |
| format | Article |
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Mutations in LMNA gene encoding two ubiquitously expressed nuclear proteins, lamins A and C, give rise to up to 7 different pathologies affecting specific tissues. Three of these disorders affect cardiac and/or skeletal muscles with atrio‐ventricular conduction disturbances, dilated cardiomyopathy and sudden cardiac death as common features.
Results:
A new LMNA mutation (1621C>T, R541C) was found in two members of a French family with a history of ventricular rhythm disturbances and an uncommon form of systolic left ventricle dysfunction. The two patients: the proband and his daughter, were affected and exhibited an atypical form of dilated cardiomyopathy with an unexplained left ventricle aneurysm revealed by ventricular rhythm disturbances without atrio‐ventricular block.
Conclusion:
This finding reinforces the highly variable phenotypic expression of LMNA mutation and emphasizes the fact that LMNA mutations can be associated with different cardiac phenotypes.</description><identifier>ISSN: 1388-9842</identifier><identifier>EISSN: 1879-0844</identifier><identifier>DOI: 10.1016/S1388-9842(03)00149-1</identifier><identifier>PMID: 14675861</identifier><language>eng</language><publisher>England</publisher><subject>Adult ; atrio‐ventricular block ; dilated cardiomyopathy ; Female ; Heart Aneurysm - genetics ; Heart Aneurysm - physiopathology ; Humans ; lamin A/C gene ; Lamin Type A - genetics ; left ventricular aneurysm ; Male ; Middle Aged ; Mutation - genetics ; Pedigree ; Phenotype ; Ventricular Dysfunction, Left - genetics ; Ventricular Dysfunction, Left - physiopathology</subject><ispartof>European journal of heart failure, 2003-12, Vol.5 (6), p.821-825</ispartof><rights>Published on behalf of the European Society of Cardiology. All rights reserved. © 2003 the Authors</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4141-a853b4a9c1375eb3b0cf6324e7344f59c131a048804512cbd9b098300065a2203</citedby><cites>FETCH-LOGICAL-c4141-a853b4a9c1375eb3b0cf6324e7344f59c131a048804512cbd9b098300065a2203</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1016%2FS1388-9842%2803%2900149-1$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1016%2FS1388-9842%2803%2900149-1$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,1433,27924,27925,45574,45575,46409,46833</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/14675861$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Forissier, Jean‐François</creatorcontrib><creatorcontrib>Bonne, Gisèle</creatorcontrib><creatorcontrib>Bouchier, Christiane</creatorcontrib><creatorcontrib>Duboscq‐Bidot, Laetitia</creatorcontrib><creatorcontrib>Richard, Pascale</creatorcontrib><creatorcontrib>Wisnewski, Claudine</creatorcontrib><creatorcontrib>Briault, Sylvain</creatorcontrib><creatorcontrib>Moraine, Claude</creatorcontrib><creatorcontrib>Dubourg, Olivier</creatorcontrib><creatorcontrib>Schwartz, Ketty</creatorcontrib><creatorcontrib>Komajda, Michel</creatorcontrib><title>Apical left ventricular aneurysm without atrio‐ventricular block due to a lamin A/C gene mutation</title><title>European journal of heart failure</title><addtitle>Eur J Heart Fail</addtitle><description>Background:
Mutations in LMNA gene encoding two ubiquitously expressed nuclear proteins, lamins A and C, give rise to up to 7 different pathologies affecting specific tissues. Three of these disorders affect cardiac and/or skeletal muscles with atrio‐ventricular conduction disturbances, dilated cardiomyopathy and sudden cardiac death as common features.
Results:
A new LMNA mutation (1621C>T, R541C) was found in two members of a French family with a history of ventricular rhythm disturbances and an uncommon form of systolic left ventricle dysfunction. The two patients: the proband and his daughter, were affected and exhibited an atypical form of dilated cardiomyopathy with an unexplained left ventricle aneurysm revealed by ventricular rhythm disturbances without atrio‐ventricular block.
Conclusion:
This finding reinforces the highly variable phenotypic expression of LMNA mutation and emphasizes the fact that LMNA mutations can be associated with different cardiac phenotypes.</description><subject>Adult</subject><subject>atrio‐ventricular block</subject><subject>dilated cardiomyopathy</subject><subject>Female</subject><subject>Heart Aneurysm - genetics</subject><subject>Heart Aneurysm - physiopathology</subject><subject>Humans</subject><subject>lamin A/C gene</subject><subject>Lamin Type A - genetics</subject><subject>left ventricular aneurysm</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mutation - genetics</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Ventricular Dysfunction, Left - genetics</subject><subject>Ventricular Dysfunction, Left - physiopathology</subject><issn>1388-9842</issn><issn>1879-0844</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkM1OwzAMgCMEYmPwCKCcEBzK7CZt0wvSNG0MNIkDcI7SLIVC2o6mZdqNR-AZeRK6P8GRky37sy1_hJwiXCFg2H9AJoQXC-5fALsEQB57uEe6KKLYA8H5fpvvkA45cu61hSIA_5B0kIdRIELsEj2YZ1pZak1a0w9T1FWmG6sqqgrTVEuX00VWv5RNTVXbKr8_v_5CiS31G501htYlVdSqPCvooD-kz6YwNG9qVWdlcUwOUmWdOdnGHnkajx6HE296f3M7HEw9zZGjp0TAEq5ijSwKTMIS0GnIfG4ixnkarOqogAsBPEBfJ7M4gVgwAAgD5fvAeuR8s3dele-NcbXMM6eNte0vZeNkhDwIY2AtGGxAXZXOVSaV8yrLVbWUCHJlV67typU6CUyu7Ups5862B5okN7Pfqa3OFrjeAIvMmuX_tsrR3WS8u_AD5cuH5Q</recordid><startdate>200312</startdate><enddate>200312</enddate><creator>Forissier, Jean‐François</creator><creator>Bonne, Gisèle</creator><creator>Bouchier, Christiane</creator><creator>Duboscq‐Bidot, Laetitia</creator><creator>Richard, Pascale</creator><creator>Wisnewski, Claudine</creator><creator>Briault, Sylvain</creator><creator>Moraine, Claude</creator><creator>Dubourg, Olivier</creator><creator>Schwartz, Ketty</creator><creator>Komajda, Michel</creator><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>7X8</scope></search><sort><creationdate>200312</creationdate><title>Apical left ventricular aneurysm without atrio‐ventricular block due to a lamin A/C gene mutation</title><author>Forissier, Jean‐François ; Bonne, Gisèle ; Bouchier, Christiane ; Duboscq‐Bidot, Laetitia ; Richard, Pascale ; Wisnewski, Claudine ; Briault, Sylvain ; Moraine, Claude ; Dubourg, Olivier ; Schwartz, Ketty ; Komajda, Michel</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4141-a853b4a9c1375eb3b0cf6324e7344f59c131a048804512cbd9b098300065a2203</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Adult</topic><topic>atrio‐ventricular block</topic><topic>dilated cardiomyopathy</topic><topic>Female</topic><topic>Heart Aneurysm - genetics</topic><topic>Heart Aneurysm - physiopathology</topic><topic>Humans</topic><topic>lamin A/C gene</topic><topic>Lamin Type A - genetics</topic><topic>left ventricular aneurysm</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Mutation - genetics</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Ventricular Dysfunction, Left - genetics</topic><topic>Ventricular Dysfunction, Left - physiopathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Forissier, Jean‐François</creatorcontrib><creatorcontrib>Bonne, Gisèle</creatorcontrib><creatorcontrib>Bouchier, Christiane</creatorcontrib><creatorcontrib>Duboscq‐Bidot, Laetitia</creatorcontrib><creatorcontrib>Richard, Pascale</creatorcontrib><creatorcontrib>Wisnewski, Claudine</creatorcontrib><creatorcontrib>Briault, Sylvain</creatorcontrib><creatorcontrib>Moraine, Claude</creatorcontrib><creatorcontrib>Dubourg, Olivier</creatorcontrib><creatorcontrib>Schwartz, Ketty</creatorcontrib><creatorcontrib>Komajda, Michel</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>European journal of heart failure</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Forissier, Jean‐François</au><au>Bonne, Gisèle</au><au>Bouchier, Christiane</au><au>Duboscq‐Bidot, Laetitia</au><au>Richard, Pascale</au><au>Wisnewski, Claudine</au><au>Briault, Sylvain</au><au>Moraine, Claude</au><au>Dubourg, Olivier</au><au>Schwartz, Ketty</au><au>Komajda, Michel</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Apical left ventricular aneurysm without atrio‐ventricular block due to a lamin A/C gene mutation</atitle><jtitle>European journal of heart failure</jtitle><addtitle>Eur J Heart Fail</addtitle><date>2003-12</date><risdate>2003</risdate><volume>5</volume><issue>6</issue><spage>821</spage><epage>825</epage><pages>821-825</pages><issn>1388-9842</issn><eissn>1879-0844</eissn><abstract>Background:
Mutations in LMNA gene encoding two ubiquitously expressed nuclear proteins, lamins A and C, give rise to up to 7 different pathologies affecting specific tissues. Three of these disorders affect cardiac and/or skeletal muscles with atrio‐ventricular conduction disturbances, dilated cardiomyopathy and sudden cardiac death as common features.
Results:
A new LMNA mutation (1621C>T, R541C) was found in two members of a French family with a history of ventricular rhythm disturbances and an uncommon form of systolic left ventricle dysfunction. The two patients: the proband and his daughter, were affected and exhibited an atypical form of dilated cardiomyopathy with an unexplained left ventricle aneurysm revealed by ventricular rhythm disturbances without atrio‐ventricular block.
Conclusion:
This finding reinforces the highly variable phenotypic expression of LMNA mutation and emphasizes the fact that LMNA mutations can be associated with different cardiac phenotypes.</abstract><cop>England</cop><pmid>14675861</pmid><doi>10.1016/S1388-9842(03)00149-1</doi><tpages>5</tpages></addata></record> |
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| subjects | Adult atrio‐ventricular block dilated cardiomyopathy Female Heart Aneurysm - genetics Heart Aneurysm - physiopathology Humans lamin A/C gene Lamin Type A - genetics left ventricular aneurysm Male Middle Aged Mutation - genetics Pedigree Phenotype Ventricular Dysfunction, Left - genetics Ventricular Dysfunction, Left - physiopathology |
| title | Apical left ventricular aneurysm without atrio‐ventricular block due to a lamin A/C gene mutation |
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