Extensive cardiovascular involvement in a young boy with Gaucher’s disease: a case report

BACKGROUND: Lysosomal storage diseases (LSDs) are rare, progressive, multi-organ disorders caused by inherited enzyme deficiencies. Gaucher’s disease (GD) is the most prevalent form of LSDs. CASE SUMMARY: A 19-year-old Caucasian male presented with exertional dyspnoea. Physical examination revealed a Grade III/VI systolic diamond murmur at the heart base and a Grade IV/VI systolic murmur at the apex. Electrocardiogram showed signs of left ventricular hypertrophy (LVH). Trans-thoracic echocardiography (TTE) and trans-oesophageal echocardiography (TEE) demonstrated moderate LVH, severe aortic valve stenosis, severe supra-valvular aortic stenosis, and moderate mitral stenosis with severe degenerative mitral valve regurgitation. Bone marrow biopsy and aspiration confirmed the presence of characteristic Gaucher's cells. The patient underwent the Bentall procedure and mitral valve replacement and was discharged in good condition. DISCUSSION: Gaucher’s disease exhibits three clinical phenotypes, and cardiovascular involvement is commonly seen in GD Type III. Valvular calcification and ascending aorta involvement are frequent cardiovascular manifestations. Although severe valvular heart involvement is rare in GD, cardiac valve surgery has shown favourable outcomes in previous studies and our case.