Wang et al. (2010) studied 2 Han Chinese families with hypertrophic cardiomyopathy (CMH). In the first family, the 37-year-old female proband had nonobstructive cardiac hypertrophy with an interventricular septal thickness of 21 mm and normal left ventricular systolic ... Wang et al. (2010) studied 2 Han Chinese families with hypertrophic cardiomyopathy (CMH). In the first family, the 37-year-old female proband had nonobstructive cardiac hypertrophy with an interventricular septal thickness of 21 mm and normal left ventricular systolic function, with T-wave changes on electrocardiogram (ECG). The proband's mother had died a sudden cardiac death at 38 years of age; the proband also had an affected brother and daughter, both of whom had asymmetric septal hypertrophy on echocardiogram, and the brother also had voltage criteria for left ventricular hypertrophy (LVH) on ECG. In the second family, the 45-year-old male proband had a left ventricular anterior wall thickness of 17 mm. His grandmother had died suddenly with suspected heart disease at 40 years of age, and his father and brother were also affected. His father had asymmetric left ventricular hypertrophy with an anterior wall thickness of 22 mm and atrial fibrillation and ST-T changes on ECG, and his younger brother had moderate asymmetric interventricular septal thickness (16 mm) and voltage criteria for LVH on ECG.
Wang et al. (2010) analyzed the NEXN gene in 121 unrelated Han Chinese patients with CMH who were negative for mutations in 8 common myofilament-associated genes responsible for CMH, and they identified 2 heterozygous missense mutations in 2 ... Wang et al. (2010) analyzed the NEXN gene in 121 unrelated Han Chinese patients with CMH who were negative for mutations in 8 common myofilament-associated genes responsible for CMH, and they identified 2 heterozygous missense mutations in 2 probands (613121.0004 and 613121.0005, respectively) that segregated with disease in each family and were not found in 192 ethnically matched controls.