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 atrioventricular 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. (C) 2003 European Society of Cardiology. Published by Elsevier Science B.V. All rights reserved.