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Apical left ventricular aneurysm without atrio‐ventricular block due to a lamin A/C gene mutation

2003; Elsevier BV; Volume: 5; Issue: 6 Linguagem: Inglês

10.1016/s1388-9842(03)00149-1

1879-0844

J.-F. Forissier, Gisèle Bonne, Christiane Bouchier, Laëtitia Duboscq-Bidot, Pascale Richard, Claudine Wisnewski, Sylvain Briault, Claude Moraine, Olivier Dubourg, Ketty Schwartz, Michel Komajda,

Cardiomyopathy and Myosin Studies

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.