cardiomyopathy, familial hypertrophic, type 15

cardiomyopathy, familial hypertrophic, type 15

A hereditary heart disorder (OMIM:613255) characterised by asymmetric ventricular hypertrophy, which usually involves the interventricular septum.

Clinical findings
Dyspnoea, syncope, collapse, palpitations, and chest pain triggered by exercise. The disorder has inter- and intrafamilial variability, ranging from benign and asymptomatic to malignant forms with high risk of cardiac failure and sudden cardiac death.

Molecular pathology
Defects of VCL, which encodes a cytoskeletal protein present in cell–cell and cell–matrix junctions, cause familial hypertrophic cardiomyopathy type 15.
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