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.