title: [Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation].
abstract: 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.
  
  
  CONCLUSIONS
  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.affiliation: Service de cardiologie, hôpital Ambroise Paré, Boulogne-Billancourt. forissier@club-internet.fr
authors.forename: J E
authors.initials: JE
authors.lastname: Forissier
authors.forename: G
authors.initials: G
authors.lastname: Bonne
authors.forename: C
authors.initials: C
authors.lastname: Bouchier
authors.forename: L
authors.initials: L
authors.lastname: Duboscq-Bidot
authors.forename: P
authors.initials: P
authors.lastname: Richard
authors.forename: S
authors.initials: S
authors.lastname: Briault
authors.forename: C
authors.initials: C
authors.lastname: Moraine
authors.forename: O
authors.initials: O
authors.lastname: Dubourg
authors.forename: K
authors.initials: K
authors.lastname: Schwartz
authors.forename: M
authors.initials: M
authors.lastname: Komajda
mesh_terms: D000328:Adult; D002311:Cardiomyopathy, Dilated; D004252:DNA Mutational Analysis; D005260:Female; D006322:Heart Aneurysm / Q000235:genetics* / Q000473:pathology; D006352:Heart Ventricles / Q000473:pathology*; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D018487:Ventricular Dysfunction, Left / Q000209:etiology / Q000235:genetics
chemical_list: D034904:Lamin Type A; C440308:lamin C