An Afro-Caribbean patient with a thick heart

Abstract

### Learning Point for Clinicians Almost 4% of Afro-Caribbeans possess a mutation associated with the development of cardiac amyloidosis. Around 10% of such patients with heart failure may possess this mutation of transthyretin. Frequently ascribed to race and co-existent hypertension, appearances of left ventricular hypertrophy are often due to hereditary amyloidosis in the Afro-Caribbean population. A 68-year-old Afro-Caribbean woman presented with shortness of breath. Past history included bilateral carpal tunnel syndrome. Her father had died in his mid-40s, from heart failure. The patient was hypertensive (148/103 mmHg) with mild peripheral oedema. An electrocardiogram showed atrial flutter at 160 beats/min, with low-normal limb lead voltage, and pre-cordial Q-waves (pseudo-infarction pattern). Echocardiography revealed a thickened left ventricular wall (18 mm) and markedly reduced ejection fraction (25%) with moderate diastolic dysfunction. The patient …