Hafeez Yamama, Varghese Vincent
Saint Mary Medical Center, Providence
Hypertrophic cardiomyopathy (HCM) results from genetic mutations in the cardiac sarcomere gene, which in turn, codes for integral components of the contractile apparatus of the heart muscle. It is inherited in an autosomal dominant fashion with variable expressivity and penetrance. HCM is defined by an increase in the left ventricular wall thickness that is not completely explained by abnormal loading conditions. Various morphological variants of HCM are known, and present with different hemodynamic and clinical manifestations. These HCM variants include apical hypertrophic cardiomyopathy, sigmoid septal hypertrophic cardiomyopathy, symmetric septal hypertrophic cardiomyopathy, and asymmetric septal hypertrophic cardiomyopathy.
肥厚型心肌病（HCM）由心肌肌节基因突变引起，这些基因进而编码心肌收缩装置的重要组成部分。它以常染色体显性方式遗传，具有可变的表达性和外显率。HCM的定义是左心室壁厚度增加，而异常负荷情况并不能完全解释这一现象。已知HCM有多种形态学变异型，且表现出不同的血流动力学和临床表现。这些HCM变异型包括心尖肥厚型心肌病、乙状隔肥厚型心肌病、对称性室间隔肥厚型心肌病和非对称性室间隔肥厚型心肌病。
