Dramatically different phenotypic expressions of hypertrophic cardiomyopathy in male cousins undergoing cardiac transplantation with identical disease-causing gene mutation.

Abstract excerpt

Described herein are certain findings in 2 male cousins who underwent cardiac transplantation for severe heart failure (HF), one of the diastolic type (ejection fraction ≈65%), and one of the systolic type (ejection fraction ≈20%), both the consequence of hypertrophic cardiomyopathy (HC), and each had identical disease-causing gene mutations. The implanted heart in one had normal-sized ventricular cavities and no...

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