The clincal significance of screening for cardiac myosin-binding protein C gene mutations is reviewed. Abnormalities of nine cardiac sarcomeric protein genes have been found in hypertrophic cardiomyopathy. Cardiac myosin-binding protein C gene mutations are the most frequent ones, together with β -myosin heavy chain gene mutations. The majority of patients with hypertrophic cardiomyopathy associated with mutations in the cardiac myosin-binding protein C gene show late disease onset, i.e., delay in the expression of cardiac hypertrophy until middle or old age, and a favorable clinical course. However, a small number of patients exceptionally show a poor prognosis. It is therefore clinically important to identify mutations in the myosin-binding protein C gene in patients with hypertrophic cardiomyopathy because it allows us to assess the prognosis of patients and is also beneficial for their treatment.
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