A rare pathogenic variant identified in a heart transplant recipient with hereditary transthyretin amyloidosis: a case report

Abstract

Hereditary transthyretin (ATTRv) amyloidosis is a rare and complex genetic disorder that can lead to life-threatening cardiac amyloidosis and rapid disease progression. Early diagnosis and treatment with disease-modifying drugs can improve patient outcomes; however, heart transplantation may be necessary in some patients. We present the unique case of a 65-year-old Korean woman diagnosed with ATTRv amyloidosis after experiencing progressive neurological symptoms, followed by heart failure. Despite the absence of significant symptoms of heart failure, subsequent screening revealed cardiac amyloid infiltration, which caused left ventricular hypertrophy and rapid disease progression. The patient underwent successful heart transplantation, and subsequent genetic testing revealed a pathogenic variant, NM_000371.3:c.425T>C (p.Val142Ala), which affects both the nerves and heart and has not been previously reported in Korea. Our report underscores the potential benefits of heart transplantation in managing advanced ATTRv amyloidosis and emphasizes the need for continued research on the genetic heterogeneity of the disease. Clinicians should consider ATTRv amyloidosis in the differential diagnosis of patients presenting with neurological symptoms and heart failure, particularly in those with a family history of the disease.