Extensive vascular and valvular involvement in Gaucher disease

Abstract

A 17-year-old patient with type III Gaucher disease was hospitalized for recurrent syncope. Echocardiography showed calcified aortic and mitral stenosis. Three-dimensional computed tomography showed severely calcified plaques on the ascending aorta, arcus, and abdominal aorta. On follow-up, palpitations and syncope were triggered by emotional stress, followed by severe bradycardia that was resulted in cardiogenic shock; the patient died after 8 h despite all efforts. Gaucher disease should be kept in mind in the differential diagnosis of a young patient with extensive vascular and valvular calcification. Patients with symptomatic severe valvular disease must be referred for early surgery.

Keywords: Aortic valve stenosis; calcinosis; fatal outcome; gaucher disease; mitral valve stenosis.