[Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation].
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.
Forissier
J E
JE
Service de cardiologie, hôpital Ambroise Paré, Boulogne-Billancourt. forissier@club-internet.fr
Bonne
G
G
Bouchier
C
C
Duboscq-Bidot
L
L
Richard
P
P
Briault
S
S
Moraine
C
C
Dubourg
O
O
Schwartz
K
K
Komajda
M
M
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
D034904:Lamin Type A; C440308:lamin C