Hypertrophic cardiomyopathy is a fascinating disease of marked heterogeneity. Hypertrophic cardiomyopathy was originally characterized by massive myocardial hypertrophy in the absence of known etiology, a dynamic left ventricular outflow obstruction, and increased risk of sudden death. It is now well accepted that multiple mutations in genes encoding for the cardiac sarcomere are responsible fo...

Editorial Genetic investigation and counselling of families with hypertrophic cardiomyopathy In 1958 Teare described the gross appearances of the heart in eight young people dying suddenly of what became known as hypertrophic cardiomyopathy.' The familial nature of the disease became clear when Teare found himself carrying out a necropsy on a brother of a case in the series. By coincidence on t...

Phospholamban is an endogenous inhibitor of sarcoplasmic reticulum calcium ATPase and plays a prime role in cardiac contractility and relaxation. Phospholamban may be a candidate gene responsible for cardiomyopathy. We investigated genome sequence of phospholamban in patients with cardiomyopathy. PCR-based direct sequence was performed for the promoter region and the whole coding region of phos...

Left ventricular hypertrophy (symmetric, asymmetric, or hypertrophic cardiomyopathy) is an almost invariable accompaniment of primary hyperparathyroidism. Five of 18 patients with hypertrophic cardiomyopathy had raised serum concentrations of parathyroid hormone with normal serum calcium concentrations. Left ventricular hypertrophy did not occur in any of the six patients with hypercalcaemia al...

RATIONALE Variants in TRIM63, including a nonsense mutation (p.Q247X), have been suggested recently to cause hypertrophic cardiomyopathy. OBJECTIVE To verify pathogenicity of TRIM63 p.Q247X detected by whole-exome sequencing in a symptomless professional sports player seeking medical advice because of a prolonged QT interval found during a routine check-up. METHODS AND RESULTS Clinical stud...

The aim of this study was to identify mutations in the cardiac heavy-chain beta-myosin gene (MYH7b) in a group of Spanish patients with hypertrophic cardiomyopathy. The study included 36 families with at least one member who had hypertrophic cardiomyopathy. DNA from exons 3 to 24 of the MYH7b gene was sequenced. Two mutations were identified: Arg858Cys and Met515Val. They occurred in two famili...

Hypertensive hypertrophic cardiomyopathy may be a distinctive cardiac condition resulting from hypertension. Alternatively, this disease may represent the coincidence of a common disease, hypertension, with a relatively rare cardiomyopathy. A consecutive series of patients with hypertrophic cardiomyopathy and hypertension were studied and compared with age- and gender-matched patients with card...

An experienced marathon runner died suddenly during a competitive race. At necropsy, ventricular hypertrophy but no asymmetrical septal hypertrophy was found. Histological studies showed features of hypertrophic cardiomyopathy. The coronary arteries were normal. We propose that the runner died from myocardial ischaemia, precipitated by marathon running on a background of hypertrophic cardiomyop...

Myocardial fiber disarray is a distinctive histopathologic finding seen in asymmetric hypertrophic cardiomyopathy. We studied 14 hearts with aortic atresia and intact interventricular septum, six hearts with pulmonic atresia and intact interventricular septum, eight normal infant hearts matched for age of the study hearts, and one nonadult heart with hypertrophic cardiomyopathy and asymmetric h...

Background: Conventional Doppler indices of left ventricular diastolic function do not correlate with symptoms or exercise capacity in patients with hypertrophic cardiomyopathy, because of their dependence on loading conditions. Diastolic mitral annular velocity measured using Doppler tissue imaging has been reported to be a preload independent index of left ventricular diastolic function. Obje...