Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy
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DOI：
10.1016/s0140-6736(12)60397-3
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发表时间：
2013-01-19
期刊：
影响因子：
168.9
通讯作者：
Maron, Martin S.
中科院分区：
文献类型：
--
作者：
Maron, Barry J.;Maron, Martin S.
肥厚型心肌病是一种常见的遗传性心血管疾病，每500人中就有一人患有肥厚型心肌病。它是由11个或更多编码心肌肌节蛋白的基因的1400多个突变引起的。虽然肥厚性心肌病是年轻人(包括训练有素的运动员)猝死的最常见原因，并可导致心力衰竭和中风导致功能残疾，但大多数受影响的人可能仍未得到诊断，许多人的预期寿命没有大幅缩短，也没有实质性的症状。临床诊断是基于超声心动图或心血管核磁共振确定的其他原因不明的左心室肥厚。虽然呈现出不同的临床特征和复杂的病理生理学，但有效的治疗策略是可用的，包括用于防止猝死的植入式除颤器、用于缓解流出道梗阻和心力衰竭症状的药物和外科肌层切除术(或者，或者，用于缓解流出道梗阻和心力衰竭症状的酒精间隔消融术)，以及用于控制心房颤动和预防栓塞性中风的药物策略(可能还有射频消融)。出现了一组有基因突变但无左室肥厚的患者，其自然病史尚未解决。50多年后的今天，肥厚型心肌病已经从一种罕见的、基本上无法治愈的疾病转变为一种常见的遗传性疾病，其管理策略允许人们对恢复生活质量和延长寿命的现实愿望。
Hypertrophic cardiomyopathy is a common inherited cardiovascular disease present in one in 500 of the general population. It is caused by more than 1400 mutations in 11 or more genes encoding proteins of the cardiac sarcomere. Although hypertrophic cardiomyopathy is the most frequent cause of sudden death in young people (including trained athletes), and can lead to functional disability from heart failure and stroke, the majority of affected individuals probably remain undiagnosed and many do not experience greatly reduced life expectancy or substantial symptoms. Clinical diagnosis is based on otherwise unexplained left-ventricular hypertrophy identified by echocardiography or cardiovascular MRI. While presenting with a heterogeneous clinical profile and complex pathophysiology, effective treatment strategies are available, including implantable defibrillators to prevent sudden death, drugs and surgical myectomy (or, alternatively, alcohol septal ablation) for relief of outflow obstruction and symptoms of heart failure, and pharmacological strategies (and possibly radiofrequency ablation) to control atrial fibrillation and prevent embolic stroke. A subgroup of patients with genetic mutations but without left-ventricular hypertrophy has emerged, with unresolved natural history. Now, after more than 50 years, hypertrophic cardiomyopathy has been transformed from a rare and largely untreatable disorder to a common genetic disease with management strategies that permit realistic aspirations for restored quality of life and advanced longevity.