Cardiac involvement in patients with lamin A/C gene mutations: A cohort observation
Cardiac involvement in patients with lamin A/C gene mutations: A cohort observation
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核纤层蛋白 A/C 基因突变患者的心脏受累：队列观察
DOI：
10.1002/mus.23294
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发表时间：
2012
期刊：
影响因子：
3.4
通讯作者：
M. Marrosu
中科院分区：
文献类型：
--
作者：
N. Carboni;C. Sardu;E. Cocco;G. Marrosu;Rosa C. Manzi;V. Nissardi;Franco Isola;A. Mateddu;Elisabetta Solla;M. Maioli;V. Oppo;R. Piras;G. Coghe;Carlo Lai;M. Marrosu
引言：LMNA基因突变与心脏和骨骼肌改变相关。方法：21个突变个体的队列进行了多年的临床和仪器调查评估。结果：中位观察期为6年。16例患者出现心脏损害。缓慢性心律失常是最常见的表现，其次是室上性心律失常。2例患者发生非持续性室性快速性心律失常，1例患者发生持续性室性快速性心律失常。扩张型心肌病3例。对临床表现频率的评估显示，在携带相同LMNA基因突变的研究受试者中，患有类似心脏损害的可能性很高。结论：心脏受累是LMNA基因突变的常见表型表现。具有共同遗传背景的受试者似乎患有心脏表现的类似模式。肌肉神经46：187-192，2012
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