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=Volume 10 - 2023

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 individualsthree of them symptomatic. Only one family with the same variant with a Swedish origin has been well 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. A clinical stability in the absence of adverse events has been observed at follow up.