Matsushita et al. (2007) studied 4 Japanese probands with hypertrophic cardiomyopathy (CMH). The first proband was diagnosed at 14 years of age and had anterolateral hypertrophy of the free left ventricular wall. His mother, who was diagnosed at ... Matsushita et al. (2007) studied 4 Japanese probands with hypertrophic cardiomyopathy (CMH). The first proband was diagnosed at 14 years of age and had anterolateral hypertrophy of the free left ventricular wall. His mother, who was diagnosed at 40 years of age, had left ventricular hypertrophy (LVH) on electrocardiogram (ECG) and a sigmoid septum with hyperdynamic LV motion on echocardiography. A younger sister had died suddenly at 3 years of age. The second proband was diagnosed with CMH at 33 years of age, and had a family history of CMH involving her grandfather, father, and the father's sibs, who were unavailable for study. The third proband was diagnosed with CMH at 7 months of age and had hypertrophy of the interventricular septum and posterior wall of the left ventricle (both 15 mm to 16 mm in thickness) and left ventricular outflow tract obstruction. The fourth proband was diagnosed at 35 years of age, and had negative T wave, abnormal Q wave, and nonsustained ventricular tachycardia on ECG. Echocardiography showed interventricular septal hypertrophy of the left ventricle and paradoxical flow; MRI revealed an aneurysm of the left ventricular apex. Myocardial biopsy showed myocyte hypertrophy and disarray and myocardial fibrosis, consistent with a diagnosis of hypertrophic cardiomyopathy.
In 223 unrelated patients with hypertrophic cardiomyopathy (CMH), who were negative for mutation in 8 myofilament-associated genes and 5 Z disc-associated genes, Landstrom et al. (2007) analyzed the candidate gene JPH2 and identified heterozygosity for 3 different missense ... In 223 unrelated patients with hypertrophic cardiomyopathy (CMH), who were negative for mutation in 8 myofilament-associated genes and 5 Z disc-associated genes, Landstrom et al. (2007) analyzed the candidate gene JPH2 and identified heterozygosity for 3 different missense mutations in 3 probands (605267.0001-605267.0003, respectively). Matsushita et al. (2007) analyzed the candidate gene JPH2 in 148 Japanese probands with CMH and 48 affected family members, as well as 32 patients with dilated cardiomyopathy (CMD; see 115200) and 8 patients with restrictive cardiomyopathy (RCM; see 115210) and identified the same missense mutation (605267.0004) in 4 CMH probands that was not found in CMD or RCM patients or in 236 Japanese controls. Subsequent analysis of 15 known CMH genes in the probands revealed that 1 patient also carried 2 mutations in the MYH7 gene (see, e.g., 160760.0016).