1. Cardiac involvement in patients with lamin A/C gene mutations: a cohort observation.
- Author
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Carboni N, Sardu C, Cocco E, Marrosu G, Manzi RC, Nissardi V, Isola F, Mateddu A, Solla E, Maioli MA, Oppo V, Piras R, Coghe G, Lai C, and Marrosu MG
- Subjects
- Adult, Aged, Aged, 80 and over, Cohort Studies, Female, Humans, Male, Middle Aged, Arrhythmias, Cardiac genetics, Cardiomyopathy, Dilated genetics, Lamin Type A genetics, Mutation
- 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., (Copyright © 2012 Wiley Periodicals, Inc.)
- Published
- 2012
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