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...

Peripartum cardiomyopathy is defined as left ventricular dilation and failure, first developing during the third trimester of pregnancy or in the first 6 months postpartum. In an effort to characterize this syndrome in a middle class population, 14 consecutive patients with peripartum cardiomyopathy underwent a detailed history and physical examination, right heart catheterization, M-mode and t...

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...

BACKGROUND The incidence and possible differences between typical and atypical Takotsubo cardiomyopathy (TTC) in Taiwanese patients have not yet been assessed. METHODS We reviewed the records of 2171 patients who underwent left heart catheterization for suspected acute coronary syndrome (ACS) between January 2003 and March 2011 to identify TTC. Demographic, clinical presentations, laboratory ...

The current study reports the first family with confirmed myofibrillar myopathy MFM in the Middle East and the third family worldwide. This study highlights the importance of considering MFM in young patients presenting with idiopathic cardiomyopathy, arrhythmia or atrioventricular block in the Gulf states. This is the first report that presented 2 different types of cardiomyopathy and 2 differ...

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...

AIMS This study uses pulsed Doppler tissue imaging to analyse right ventricular myocardial function and its interaction with left ventricle in hypertrophic cardiomyopathy involving ventricular septum. METHODS AND RESULTS Thirty-four patients with septal hypertrophic cardiomyopathy and 30 normal subjects, comparable for sex, age, body mass index and heart rate, underwent complete standard Dopp...