Ter Arkh. 2026 May 2;98(4):251-258. doi: 10.26442/00403660.2026.04.203572.
ABSTRACT
Amyloidosis associated with mutations in the transthyretin gene is the most common form of hereditary systemic amyloidosis. The onset and phenotype of the disease depend on the type of mutation, but the peripheral nervous system and heart are usually affected, and the age of onset of the disease varies from the third to the fifth decade. For the first time in Kuzbass, a case of hereditary transthyretin amyloidosis with a mutation in exon 3 of the TTR gene c.218G>A (Gly73Glu) in a heterozygous state was diagnosed in a 52-year-old man, which is characterized by a long course and late diagnosis (5 years from the first symptoms to confirmed mutation), including pronounced symptoms of autonomic dysfunction (up to severe orthostatic hypotension) and paraclinical signs of heart disease (phenocopy of hypertrophic cardiomyopathy). The work analyzes the spectrum of clinical manifestations of the disease, and also presents changes in the structural and functional parameters of the heart against the background of 2 years of specific therapy with tafamidis.
PMID:42107129 | DOI:10.26442/00403660.2026.04.203572