Familial Apical Hypertrophic Cardiomyopathy in a Young Adult: A Rare Occasion for Making Precise Diagnostic in a Low Income Country

Hypertrophic Cardiomyopathy is a genetic disorder with asymmetric left ventricular hypertrophy. In a low income country it is sometimes difficult to do global checkup and precise diagnosis in suspected patients. We present a case of apical hypertrophic cardiomyopathy with MYBPC3 mutation in a young Cameroonian. A 36 years old man with no cardiovascular risk factors, presents with a progressive chest pain on exertion. The physical examination was normal. The resting electrocardiography showed inverted T waves in anterior, lateral and inferior leads. Treadmill electrocardiography and Coronarograpy were normal. A transthoracic cardiac ultrasound showed hypertrophy of 168 mm in the apical segment, the systolic function and the regional wall motion of the left ventricle were normal. We concluded of hypertrophic cardiomyopathy with abnormality in the myosin binding protein C (MYBPC3) found on genetic analysis. A screening cardiac ultrasound was realized in the patient’s family and the son was found to have septal hypertrophy. Strict follow-ups were organized for the patient and his son. Familial Hypertrophic Cardiomyopathy is a rare disease in cardiology; the precise diagnosis requires complex exams which are sometimes unavailable in low income countries. This case was a special one with all necessary investigations giving the possibility to organize follow-ups for patient and related family member to prevent sudden death