Polskie Archiwum Medycyny Wewnętrznej
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Pol. Arch. Med. Wewn. · Nov 2024
Rare transthyretin gene variants (p.Ala45Thr, p.Val91Ala, p.Phe53Cys, p.Ala101Val, p.Glu109Lys and p.Phe53Leu): diagnostic pitfalls and clinical characteristics of Polish patients with transthyretin cardiac amyloidosis.
The knowledge about clinical features of Polish patients with hereditary type of transthyretin cardiac amyloidosis (hATTR-CA) is scant. ⋯ This study broadens our knowledge regarding genotype‑phenotype correlations of specific TTR variants, widens the spectrum of identified TTR variants in the Polish population, and shows limited value of [99mTc]Tc‑DPD scintigraphy in some patients with hATTR‑CA. In the cases with strong suspicion of ATTR‑CA and inconclusive [99mTc]Tc‑DPD scintigraphy results, genetic testing should be considered.