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Apical left ventricular aneurysm without atrio‐ventricular block due to a lamin A/C gene mutation
Author(s) -
Forissier JeanFrançois,
Bonne Gisèle,
Bouchier Christiane,
DuboscqBidot Laetitia,
Richard Pascale,
Wisnewski Claudine,
Briault Sylvain,
Moraine Claude,
Dubourg Olivier,
Schwartz Ketty,
Komajda Michel
Publication year - 2003
Publication title -
european journal of heart failure
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.149
H-Index - 133
eISSN - 1879-0844
pISSN - 1388-9842
DOI - 10.1016/s1388-9842(03)00149-1
Subject(s) - lmna , medicine , cardiology , lamin , ventricle , dilated cardiomyopathy , left ventricular aneurysm , cardiomyopathy , sudden cardiac death , heart failure , mutation , gene mutation , proband , genetics , gene , biology , nucleus , psychiatry , myocardial infarction
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.