Case Report: Transthyretin Glu54Leu—a rare mutation with predominant cardiac phenotype

• DOI: 10.3389/fcvm.2023.1228410
• Publication Date: 2023-10-31T11:32:17Z
• Authors: Mariana Gospodinova; Sashka Zhelyazkova; Teodora Chamova; Ognyan Asenov; Zornitsa Pavlova; Tihomir Todorov; Dilyana Mikova; Yordan Palashev; Ivan Gruev; Atanas Kundurdjiev; Albena Todorova; Ivailo Tournev
• Keywords: Cardiac Amyloidosis; Rare disease; Restrictive cardiomyopathy; Endomyocardial Biopsy

We report two unrelated Bulgarian families with hereditary transthyretin (ATTR) amyloidosis due to a rare p.Glu74Leu (Glu54Leu) pathogenic variant found in seven individuals-three of them symptomatic. Only one family the same and Swedish origin has been clinically described so far. Our patients are characterized by predominant cardiac involvement, very much similar patients. Although initial complaint was bilateral carpal tunnel syndrome, advanced amyloid cardiomyopathy symptomatic carriers at diagnosis heart failure manifestations. The neurological involvement considered as mild, mainly sensory signs symptoms being present. followed non-biopsy algorithm confirm diagnosis. Tafamidis 61 mg initiated only approved disease modifying treatment for ATTR cardiomyopathy. Clinical stability absence adverse events observed follow up.