Towbin Jeffrey A, Bowles Neil E
Department of Pediatrics Cardiology, Baylor College of Medicine, One Baylor Plaza, Room 333E, Houston, TX 77030, USA.
Expert Rev Mol Diagn. 2002 Nov;2(6):587-602. doi: 10.1586/14737159.2.6.587.
Myocardial disorders are major causes of morbidity and mortality, including heart failure, sudden death and the need for heart transplantation. The two most common forms of myocardial disorders, dilated cardiomyopathy and hypertrophic cardiomyopathy are paradigms of left ventricular systolic dysfunction and diastolic dysfunction. The genetics of these disorders are increasingly understood with the sarcomere playing a central role in the development of HCM and the link between sarcomere and sarcolemma being key to the development of DCM. In this review, the genetics of the myocardial diseases will be described.
心肌疾病是发病和死亡的主要原因，包括心力衰竭、猝死以及心脏移植需求。两种最常见的心肌疾病形式，扩张型心肌病和肥厚型心肌病，分别是左心室收缩功能障碍和舒张功能障碍的典型例子。这些疾病的遗传学越来越为人所知，肌小节在肥厚型心肌病的发展中起核心作用，而肌小节与肌膜之间的联系是扩张型心肌病发展的关键。在本综述中，将描述心肌疾病的遗传学。
