Cardiac Fabry's disease: an unusual cause of left ventricular hypertrophy

Background A 64-year-old male was observed as an outpatient with atypical, non-exercise-induced chest pain and palpitations. He had arterial hypertension and marked concentric left ventricular hypertrophy. After 2.5 years of antihypertensive drug therapy the patient's blood pressure had returned to normal, but his left ventricular hypertrophy was unchanged. Investigations Electrocardiography, transthoracic echocardiography, myocardial perfusion scintigraphic imaging, measurement of a-galactosidase A activity, gene sequencing, brain MRI, carotid artery ultrasonography, biochemical renal evaluation and cardiac Doppler tissue imaging. Diagnosis Cardiac Fabry's disease. Management Losartan, hydrochlorothiazide, low-dose aspirin and bisoprolol. The patient is expected to begin enzyme replacement therapy.