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Cardiac involvement in patients with lamin A/C gene mutations: a cohort observation
Nicola Carboni1, Claudia Sardu, Eleonora Cocco
1Neuromuscular Unit, Multiple Sclerosis Center, Department of Cardiovascular and Neurological Sciences, University of Cagliari, Cagliari, Italy. nikola.carboni@tiscali.it
Introduction:
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.
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