Hereditary transthyretin amyloidosis caused by the rare Phe33Leu mutation.

Abstract excerpt

Hereditary transthyretin amyloidosis is a rare progressive systemic disease. We describe a physically active 46-year-old man who presented with dyspnoea on exertion. An echocardiogram showed increased left ventricular wall thickness and diastolic dysfunction, but normal systolic function. The QRS voltage on ECG was normal. The patient was diagnosed with hypertrophic cardiomyopathy, and several years passed before...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amyloid Neuropathies, Familial
• Share to Combined Modality Therapy
• Share to Diagnosis, Differential