A rare variant of transthyretin-related amyloidosis associated with exclusive cardiomyopathy in a Hong Kong Chinese patient

We report here a 63-year-old Chinese man suffering from TTR-related cardiac amyloidosis presented with exclusive cardiomyopathy. He had no other systemic involvement and no significant family history. Echocardiography revealed severe global myocardial impairment and left ventricular ejection fraction of 35%. Serum kappa-to-lambda ratio was normal. Genetic test detected a heterozygous TTR variant, NM_000371.3:c.425T > C p.(Val142Ala). To our knowledge, this is the first case of TTR-related cardiac amyloidosis caused by p.Val142Ala mutation reported in Asian patient.<Learning objective: This case highlights the importance to exclude transthyretin-related cardiac amyloidosis as a cause of extensive cardiomyopathy, despite the late disease onset and lack of systemic amyloidosis. High clinical suspicion and genetic testing is the key for early diagnosis.>
Source: Journal of Cardiology Cases - Category: Cardiology Source Type: research