Cardiac involvement in patients with lamin A/C gene mutations: a cohort observation.
BACKGROUND
LMNA gene mutations are associated with cardiac and skeletal muscle alterations.


METHODS
A cohort of 21 mutated individuals was assessed with clinical and instrumental investigations over the years.


RESULTS
The median observation period was 6 years. Cardiac compromise was detected in 16 patients. Bradyarrhythmias were the most frequent manifestations, followed by supraventricular arrhythmias. Two individuals suffered from nonsustained and 1 from sustained ventricular tachyarrhythmias. Dilated cardiomyopathy was detected in 3 patients. Evaluation of the frequencies of the clinical expressions showed a high probability of suffering from analogue heart compromise in study subjects bearing the same LMNA gene mutation.


CONCLUSIONS
Cardiac involvement represents a very common phenotypic expression of LMNA gene mutation. Subjects sharing common genetic background seem to suffer from analogue pattern of cardiac manifestation.
Neuromuscular Unit, Multiple Sclerosis Center, Department of Cardiovascular and Neurological Sciences, University of Cagliari, Cagliari, Italy. nikola.carboni@tiscali.it
Nicola
N
Carboni
Claudia
C
Sardu
Eleonora
E
Cocco
Giovanni
G
Marrosu
Rosa C
RC
Manzi
Vincenzo
V
Nissardi
Franco
F
Isola
Anna
A
Mateddu
Elisabetta
E
Solla
Maria A
MA
Maioli
Valentina
V
Oppo
Rachele
R
Piras
Giancarlo
G
Coghe
Carlo
C
Lai
Maria G
MG
Marrosu
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001145:Arrhythmias, Cardiac / Q000235:genetics*; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation
C494847:LMNA protein, human; D034904:Lamin Type A