A cardio-neurological form of laminopathy: dilated cardiomyopathy with permanent partial atrial standstill and axonal neuropathy.
We present the first form of laminopathy connected with a new mutation of the lamin A/C gene expressed by dilated cardiomyopathy and partial atrial standstill associated with Charcot-Marie-Tooth type 2 axonal neuropathy. The rapid development of the cardiac disease was controlled by medical treatment and resynchronization therapy associated with a defibrillator.
Duparc
Alexandre
A
Unité Rythmologie et Stimulation Cardiaque, CHU Rangueil, 1 Avenue Jean Poulhés-TSA 50032-31059 Toulouse Cedex 9, France. alexandre.duparc@laposte.net
Cintas
Pascal
P
Somody
Elisabeth
E
Bieth
Eric
E
Richard
Pascale
P
Maury
Philippe
P
Delay
Marc
M
D000328:Adult; D001282:Atrial Flutter / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D001919:Bradycardia / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D002311:Cardiomyopathy, Dilated / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male
C494847:LMNA protein, human; D034904:Lamin Type A