• Monika Gawor-Prokopczyk, Marta Lipowska, Grażyna Truszkowska, Joanna Ponińska, Maria Franaszczyk, Mateusz Ziarkiewicz, Marta Legatowicz-Koprowska, Renata Rajtar-Salwa, Przemysław Chmielewski, Zofia T Bilińska, Anna Teresińska, and Jacek Grzybowski.
• Pol. Arch. Med. Wewn. 2024 Nov 28; 134 (11).

IntroductionThe knowledge about clinical features of Polish patients with hereditary type of transthyretin cardiac amyloidosis (hATTR-CA) is scant.ObjectivesOur aim was to present rare transthyretin (TTR) gene variants and diagnostic difficulties in patients with hATTR-CA.Patients And MethodsIn the years 2018-2024, 252 consecutive patients with suspected CA were evaluated, including blood tests, standard 12‑lead electrocardiography, transthoracic echocardiography and 99mtechnetium‑3,3‑diphosphono‑1,2‑propanodicarboxylic acid ([99mTc]Tc‑DPD) scintigraphy. The TTR gene sequencing was performed, if mandatory.ResultshATTR‑CA was confirmed in 14 patients (including 1 woman). Most of them had pathogenic or likely pathogenic TTR gene variants, which are highly uncommon in the hereditary transthyretin amyloidosis population: p.Ala45Thr, p.Val91Ala, p.Phe53Cys, p.Ala101Val, p.Glu109Lys, and p.Phe53Leu. Of note, the patients with p.Ala101Val and p.Phe53Cys variants had inconclusive [99mTc]Tc‑DPD scintigraphy results, which may be due to low sensitivity of [99mTc]Tc‑DPD bone scintigraphy to these variants. Cardiac biomarkers did not reflect the intensity of cardiac uptake on [99mTc]Tc‑DPD bone scintigraphy, as 2 patients with intense cardiac uptake of the tracer had normal or borderline levels of high‑sensitivity cardiac troponin T and N-terminal pro-B-type natriuretic peptide. During follow‑up, 4 patients died, and 2 underwent combined heart and liver transplantation.ConclusionsThis 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.

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