CARDIAC INVOLVEMENT IN PATIENTS WITH LAMIN A/C GENE MUTATIONS: A COHORT OBSERVATION

被引：13

作者：

Carboni, Nicola ^{[1
]}

Sardu, Claudia ^{[2
]}

Cocco, Eleonora ^{[1
]}

Marrosu, Giovanni ^{[1
]}

Manzi, Rosa C. ^{[3
]}

Nissardi, Vincenzo ^{[4
]}

Isola, Franco ^{[3
]}

Mateddu, Anna ^{[1
]}

Solla, Elisabetta ^{[1
]}

Maioli, Maria A. ^{[1
]}

Oppo, Valentina ^{[1
]}

Piras, Rachele ^{[1
]}

Coghe, Giancarlo ^{[1
]}

Lai, Carlo ^{[3
]}

Marrosu, Maria G. ^{[1
]}

机构：

[1] Univ Cagliari, Dept Cardiovasc & Neurol Sci, Multiple Sclerosis Ctr, Neuromuscular Unit, Cagliari, Italy

[2] Policlin Monserrato, Dept Publ Hlth, Cagliari, Italy

[3] Osped SS Trinita, Div Cardiol, Cagliari, Italy

[4] Osped S Giovanni Dio, Dept Cardiol, Cagliari, Italy

来源：

MUSCLE & NERVE | 2012年 / 46卷 / 02期

关键词：

cardiac involvement; cardiomyopathy; gene mutation; lamin A/C; sudden death; AUTOSOMAL-DOMINANT; MUSCULAR-DYSTROPHY; PHENOTYPE; BINDING; DISEASE; RISK;

D O I：

10.1002/mus.23294

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

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. Muscle Nerve 46: 187-192, 2012

引用

页码：187 / 192

页数：6

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