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.

Cardiac involvement in patients with lamin A/C gene mutations: a cohort observation

CARBONI, NICOLA;SARDU, CLAUDIA;COCCO, ELEONORA;Piras R;COGHE, GIANCARLO;MARROSU, MARIA GIOVANNA
2012-01-01

Abstract

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.
2012
Cardiac involvement; Cardiomyopathy; Gene mutation; Lamin A/C; Sudden death; Adult; Aged; Aged, 80 and over; Arrhythmias, Cardiac; Cardiomyopathy, Dilated; Cohort Studies; Female; Humans; Lamin Type A; Male; Middle Aged; Mutation; Physiology; Neurology (clinical); Cellular and Molecular Neuroscience; Physiology (medical)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11584/101406
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