Modelling genetic diseases for drug development: Hypertrophic cardiomyopathy

genetic basis of hypertrophic cardiomyopathy

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Familial hypertrophic cardiomyopathy. Genetic characterization.

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 ...

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

BACKGROUND Unexplained left ventricular hypertrophy often prompts the diagnosis of hypertrophic cardiomyopathy, a sarcomere-protein gene disorder. Because mutations in the gene for AMP-activated protein kinase gamma2 (PRKAG2) cause an accumulation of cardiac glycogen and left ventricular hypertrophy that mimics hypertrophic cardiomyopathy, we hypothesized that hypertrophic cardiomyopathy might ...

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.