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European Journal of Heart Failure 2003 5(6):821-825; doi:10.1016/S1388-9842(03)00149-1
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© 2003 European Society of Cardiology

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

Jean-François Forissiera,h, Gisèle Bonneb,c, Christiane Bouchierc,d, Laetitia Duboscq-Bidotc,d, Pascale Richardc,e, Claudine Wisnewskib,c, Sylvain Briaultf, Claude Morainef, Olivier Dubourga, Ketty Schwartzb,c and Michel Komajdac,d,g,*

a Service de Cardiologie, Hôpital Ambroise Paré Boulogne-Billancourt, France
b Inserm U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière Paris, France
c IFR 14 Cœur, Muscles et Vaisseaux, Groupe Hospitalier Pitié-Salpêtrière Paris, France
d Laboratoire Génétique et Insuffisance Cardiaque, Association Claude Bernard/Université Paris VI, Groupe Hospitalier Pitié-Salpêtrière Paris, France
e Service de Biochimie B, Groupe Hospitalier Pitié-Salpêtrière Paris, France
f Service de Génétique, Hôpital Bretonneau Tours, France
g Service de Cardiologie, Groupe Hospitalier Pitié-Salpêtrière Paris, France
h Centre cardiologique Arago Perpignan, France

* Corresponding author. Present address: Laboratoire Génétique et Insuffisance Cardiaque, Pavillon Rambuteau, Groupe Hospitalier Pitié-Salpêtrière-47 bd de l'Hôpital, Paris cedex 13, 75651, France. Tel.: +33-1-42-17-68-10; fax: +33-1-42-17-68-00 E-mail address: michel.komajda{at}psl.ap-hop-paris.fr


  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.

Key Words: Left ventricular aneurysm • Dilated cardiomyopathy • Atrio-ventricular block • Lamin A/C gene

Received April 3, 2003; Revised June 11, 2003; Accepted July 17, 2003


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