Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations:: do lamin A/C mutations portend a high risk of sudden death?
Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations:: do lamin A/C mutations portend a high risk of sudden death?
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DOI：
10.1007/s00109-004-0589-1
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发表时间：
2005-01-01
影响因子：
4.7
通讯作者：
Pinto, YM
中科院分区：
文献类型：
--
作者：
van Berlo, JH;de Voogt, WG;Pinto, YM
本研究评估了核纤层蛋白A/C基因突变患者的常见临床特征，这些突变导致孤立性扩张型心肌病或扩张型心肌病伴骨骼肌营养不良。我们汇总了所有已发表的导致骨骼肌和/或心肌疾病的核纤层蛋白A/C基因突变携带者的临床数据，并回顾了ECG结果。92%的患者在30岁以后报告心律失常; 64%的患者在50岁以后报告心力衰竭。猝死是心脏和神经肌肉表型中最常见的死亡模式（46%）。核纤层蛋白A/C基因突变的携带者经常接受起搏器（28%）。然而，这种干预并没有改变猝死率。对ECG结果的审查通常显示低振幅P波和PR间期延长伴窄QRS波群。这项荟萃分析表明，由于核纤层蛋白A/C基因突变引起的心肌病预示着猝死的高风险，并且这种风险在主要患有心脏或神经肌肉疾病的受试者之间没有差异。这意味着所有核纤层蛋白A/C基因突变的携带者都需要仔细筛查，特别强调快速性心律失常。需要前瞻性研究来评估危险分层和适当的治疗策略。
This study evaluated common clinical characteristics of patients with lamin A/C gene mutations that cause either isolated dilated cardiornyopathy or dilated cardiomyopathy in association with skeletal muscular dystrophy. We pooled clinical data of all published carriers of lamin A/C gene mutations as cause of skeletal and/or cardiac muscle disease and reviewed ECG findings. Cardiac dysrhythmias were reported in 92% of patients after the age of 30 years; heart failure was reported in 64% after the age of 50. Sudden death was the most frequently reported mode of death (46%) in both the cardiac and the neuromuscular phenotype. Carriers of lamin A/C gene mutations often received a pacemaker (28%). However, this intervention did not alter the rate of sudden death. Review of the ECG findings typically showed a low amplitude P wave and prolongation of the PR interval with a narrow QRS complex. This meta-analysis suggests that cardiomyopathy due to lamin A/C gene mutations portends a high risk of sudden death, and that this risk does not differ between subjects with predominantly cardiac or neuromuscular disease. This implies then that all carriers of a lamin A/C gene mutation need to be carefully screened with particular emphasis also on tachyarrhythmias. Prospective studies are needed to evaluate risk stratification and proper treatment strategies.