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.
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.
Authors: Jop H van Berlo; Willem G de Voogt; Anneke J van der Kooi; J Peter van Tintelen; Gisèle Bonne; Rabah Ben Yaou; Denis Duboc; Tom Rossenbacker; Hein Heidbüchel; Marianne de Visser; Harry J G M Crijns; Yigal M Pinto Journal: J Mol Med (Berl) Date: 2004-11-13 Impact factor: 4.599
Authors: N Sylvius; Z T Bilinska; J P Veinot; A Fidzianska; P M Bolongo; S Poon; P McKeown; R A Davies; K-L Chan; A S L Tang; S Dyack; J Grzybowski; W Ruzyllo; H McBride; F Tesson Journal: J Med Genet Date: 2005-08 Impact factor: 6.318