Curr Probl Cardiol. 2021 Mar;46(3):100641. doi: 10.1016/j.cpcardiol.2020.100641. Epub 2020 Jun 4.
Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease and the most common cause of sudden cardiac death in young population, especially in athletes under 35 years old. Mutations occur primarily in the β-myosin heavy chain gene and involve the cardiac myosin-binding protein C gene. In this review we would like to focus on the importance of the examination of mitral valve apparatus and the mitral valve abnormalities in patients with HCM. Abnormalities in mitral valve (elongated mitral leaflets, displacement of papillary muscles, and systolic anterior motion) may be the primary pathognomonic elements, even in the absence of hypertrophy. Echocardiography is the gold standard for the diagnosis of HCM. Magnetic resonance imaging emerges as one of the most important imaging modalities for precise diagnosis, assisting in risk stratification and treatment strategy. Mitral valve abnormalities take part fundamentally in the formation of systolic anterior motion of the mitral valve and, they have substantially been repaired surgically. Although myectomy addresses the septum reduction, obstruction relief should be maximally achieved with a potential combination of myectomy and mitral valve repair.
肥厚型心肌病(HCM)是最常见的遗传性心脏病,也是 35 岁以下年轻人发生心源性猝死的最常见原因,尤其是运动员。突变主要发生在β-肌球蛋白重链基因中,并涉及心肌肌球蛋白结合蛋白 C 基因。在这篇综述中,我们想重点关注 HCM 患者二尖瓣装置和二尖瓣异常的重要性。二尖瓣异常(二尖瓣叶延长、乳头肌移位和收缩期前向运动)可能是原发性特征性元素,即使没有肥厚。超声心动图是 HCM 诊断的金标准。磁共振成像成为最重要的成像方式之一,用于精确诊断,辅助风险分层和治疗策略。二尖瓣异常在二尖瓣收缩期前向运动的形成中起主要作用,并且已经进行了实质性的手术修复。虽然心肌切除术解决了室间隔的减少,但梗阻的缓解应该通过心肌切除术和二尖瓣修复的潜在联合来最大程度地实现。