肥厚型心肌病的致病分子机制研究进展

doi:10.3724/SP.J.1005.2011.00549

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HEREDITAS ›› 2011, Vol. 33 ›› Issue (6): 549-557.doi: 10.3724/SP.J.1005.2011.00549

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Advances in the molecular pathogenesis of hypertrophic cardiomyopathy

SONG Yan-Rui¹, LIU Zhong², GU Shu-Lian², QIAN Li-Juan³, YAN Qing-Feng¹

1. College of Life Sciences, Zhejiang University, Hangzhou 310058, China 2. The First Affiliated Hospital of Zhejiang University, Hangzhou 310003, China 3. The Cancer Research Centre of Zhejiang Cancer Hospital, Hangzhou 310022, China

Received:2010-10-04 Revised:2010-11-29 Online:2011-06-20 Published:2011-06-25
Contact: YAN Qing-Feng E-mail:qfyan@zju.edu.cn

Abstract

Abstract: Hypertrophic Cardiomyopathy (HCM) is a primary cardiac disorder characterized by asymmetric thickening of the septum and left ventricular wall. HCM affects 1 in 500 individuals in the general population, and it is the most common cause of sudden death in the young and athletes. The clinic phenotype of HCM is highly variable with respect to age at onset, degree of symptoms, and risk of sudden death. HCM is usually inherited as a Mendelian autosomal dominant trait. To date, over 900 mutations have been reported in HCM, which were mainly located in 13 genes encoding cardiac sarcomere protein, e.g., MYH7, MYBPC3, and TnT. In addition, more and more mitochondrial DNA mutations were reported to be associated with the pathogenesis of HCM. Based on the description of the clinical phenotype and morphological characteristics, this review focuses on the research in the molecular pathogenic mechanism of HCM and its recent advances.

Key words: hypertrophic cardiomyopathy, genetics, mutations, nuclear genes, mitochondrial DNA

SONG Yan-Rui, LIU Zhong, GU Chu-Lian, JIAN Li-Juan, YAN Qiang-Feng. Advances in the molecular pathogenesis of hypertrophic cardiomyopathy[J]. HEREDITAS, 2011, 33(6): 549-557.

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