Case Report: Transthyretin Glu54Leu—a rare mutation with predominant cardiac phenotype
Mariana Gospodinova,
Sashka Zhelyazkova,
Teodora Chamova
et al.
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 w… Show more
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