AUTHOR=Gospodinova Mariana , Zhelyazkova Sashka , Chamova Teodora , Asenov Ognyan , Pavlova Zornitsa , Todorov Tihomir , Mikova Dilyana , Palashev Yordan , Gruev Ivan , Kundurdjiev Atanas , Todorova Albena , Tournev Ivailo TITLE=Case Report: Transthyretin Glu54Leu—a rare mutation with predominant cardiac phenotype JOURNAL=Frontiers in Cardiovascular Medicine VOLUME=10 YEAR=2023 URL=https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2023.1228410 DOI=10.3389/fcvm.2023.1228410 ISSN=2297-055X ABSTRACT=

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 with the same variant and with a Swedish origin has been clinically described so far. Our patients are characterized by predominant cardiac involvement, very much similar to the Swedish patients. Although the initial complaint was bilateral carpal tunnel syndrome, advanced amyloid cardiomyopathy was found in two symptomatic carriers at diagnosis with heart failure manifestations. The neurological involvement was considered as mild, with mainly sensory signs and symptoms being present. We followed a non-biopsy algorithm to confirm the diagnosis. Tafamidis 61 mg has been initiated as the only approved disease modifying treatment for ATTR cardiomyopathy. Clinical stability in the absence of adverse events has been observed at follow up.