Cardiovasc Imaging Asia.  2021 Jul;5(3):79-82. 10.22468/cvia.2021.00164.

Transthyretin Cardiac Amyloidosis: A Case Report

• Chin ZY
• Chew D
• Khor LY
• Liew C

• KMID: 2519017
• DOI: http://doi.org/10.22468/cvia.2021.00164

Abstract

We report a case of a 63-year-old Chinese female with multi-systemic amyloidosis associated with transthyretin mutation. She presented with gastrointestinal symptoms, sensorimotor polyneuropathy, and loss of weight. Her initial CT thorax demonstrated cardiomegaly and diffuse hyperenhancement of the myocardium involving both the right and left ventricles. Subsequent cardiac MRI performed demonstrated a myocardial enhancement pattern suggestive of amyloidosis. Transthyretin amyloidosis was subsequently confirmed on gastric biopsy and genetic testing. The role of cardiac MRI as a sensitive and low-risk imaging modality in helping to obtain a diagnosis, thus affecting patient’s management, is discussed.

Keyword

Amyloidosis; Amyloidosis; familial; Restrictive cardiomyopathy; Magnetic resonance imaging; Cardiac imaging techniques