genetic basis of hypertrophic cardiomyopathy

Genetic bases of hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy is characterized by myofibrillar derangement and predominant hypertrophy of the interventricular septum associated with a reduced or normal left ventricular cavity . It determines diastolic dysfunction and a tendency towards myocardial ischemia, arrhythmia, and sudden death. With a prevalence of 1 case per 500 individuals , it occurs in all age groups, from birth to ...

The embryological basis of subclinical hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is caused by mutations in sarcomeric proteins, the commonest being MYBPC3 encoding myosin-binding protein C. It is characterised by left ventricular hypertrophy but there is an important pre-hypertrophic phenotype with features including crypts, abnormal mitral leaflets and trabeculae. We investigated these during mouse cardiac development using high-resolution...

Familial hypertrophic cardiomyopathy. Genetic characterization.

DIFFUSE CORONARY ARTERIAL ECTASIA WITH HYPERTROPHIC CARDIOMYOPATHY

A 40 year old male, a known case of hypertrophic cardiomyopathy, was admitted for catheterization. At catheterization and angiography, septum was hypertrophied to about 5cm and diffuse coronary artery aneurysm was revealed. We found no previous report of coronary artery aneurysm in hypertrophic cardiomyopathy.

Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype.

OBJECTIVES The purpose of this study was to determine the prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy (HCM) with "restrictive phenotype" characterized by restrictive filling and minimal or no left ventricular hypertrophy. BACKGROUND Hypertrophic cardiomyopathy is a heterogeneous myocardial disorder with a broad spectrum of clinical presentation and morp...

The Ups and Downs of Genetic Diagnosis of Hypertrophic Cardiomyopathy.

Massive DNA sequencing, also known as next-generation sequencing, has revolutionized genetic diagnosis. This technology has reduced the effort and cost needed to analyze several genes simultaneously and has made genetic evaluation available to a larger number of patients. In hypertrophic cardiomyopathy, genetic analysis has increased from the 3 main genes implicated in the disease (MYH7, MYBPC3...