• 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 Oct 29.

IntroductionThe knowledge about clinical features of Polish patients with hereditary type of transthyretin cardiac amyloidosis (ATTR-CA) is scant.ObjectivesWe present rare transthyretin (TTR) gene variants and diagnostic difficulties among patients with hereditary ATTR-CA.Patients And MethodsIn 2018-2024, 252 consecutive patients with suspected cardiac amyloidosis were evaluated, including blood tests, standard 12-lead electrocardiography, transthoracic echocardiography and [99mTc]Tc-DPD scintigraphy. TTR gene sequencing was performed, if mandatory.ResultsHereditary ATTR-CA was confirmed in 14 patients (including one female). Most of them had pathogenic or likely pathogenic TTR gene variants, which are very uncommon in the hereditary transthyretin amyloidosis population: p.Ala45Thr, p.Val91Ala, p.Phe53Cys, p.Ala101Val, p.Glu109Lys and p.Phe53Leu. Of note, patients with p.Ala101Val and p.Phe53Cys variants had inconclusive [99mTc]Tc-DPD scintigraphy results, which may be due to the low sensitivity of [99mTc]Tc-DPD bone scintigraphy for these variants. Cardiac biomarkers did not reflect the intensity of cardiac uptake on [99mTc]Tc-DPD bone scintigraphy - two patients with intense cardiac uptake of tracer had normal or borderline hs-cTnT and NT-proBNP levels. During follow-up, four patients died, two patients underwent combined heart and liver transplantation.ConclusionsThis study enriches our knowledge regarding genotype-phenotype correlations of specific TTR variants, broadens the spectrum of identified TTR variants among Polish population, and shows limited value of [99mTc]Tc-DPD scintigraphy in some patients with hereditary ATTR-CA. In cases with strong suspicion of ATTR-CA and inconclusive [99mTc]Tc-DPD scintigraphy results, genetic testing should be considered.

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