Key result
The rare p.Glu74Leu (Glu54Leu) transthyretin mutation is characterized by a predominant cardiac phenotype with progressive cardiomyopathy and heart failure, alongside mild neurological involvement.
Why the study?
Only one family of Swedish origin with the rare transthyretin p.Glu74Leu (Glu54Leu) pathogenic variant had been clinically described.
Case Report (n=7)
The rare p.Glu74Leu variant in ATTR amyloidosis presents with a predominantly cardiac phenotype and mild neurological involvement, which appears to remain clinically stable when treated with tafamidis.
Adds Glu54Leu to cardiac-predominant ATTR reports; leaves open prevalence, penetrance, and screening implications in non-Swedish populations.
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.
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Господинова et al. (2023) conducted a case report in Hereditary transthyretin (ATTR) amyloidosis (n=7). p.Glu74Leu (Glu54Leu) mutation was evaluated on Clinical and phenotypic characteristics (cardiac and neurological involvement). The rare p.Glu74Leu (Glu54Leu) transthyretin mutation is characterized by a predominant cardiac phenotype with progressive cardiomyopathy and heart failure, alongside mild neurological involvement.
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