Transthyretin Amyloidosis Cardiomyopathy in Greece: Clinical Insights from the National Referral Center

Dimitrios Bampatsias; Foteini Theodorakakou; Alexandros Briasoulis; Georgios Georgiopoulos; Anna Dimoula; Vasileios Papantoniou; Ioannis Papantoniou; Chaido Skiadaresi; Pipitsa Valsamaki; Evangelos Repasos; Ioannis Petropoulos; Dimitrios Delialis; Alexandra Papathoma; Georgios Koutsis; Maria-Eirini Tselegkidi; Kimon Stamatelopoulos; Efstathios Kastritis

doi:10.1016/j.hjc.2023.09.019

Transthyretin Amyloidosis Cardiomyopathy in Greece: Clinical Insights from the National Referral Center

Hellenic J Cardiol. 2023 Oct 5:S1109-9666(23)00190-2. doi: 10.1016/j.hjc.2023.09.019. Online ahead of print.

Authors

Dimitrios Bampatsias¹, Foteini Theodorakakou¹, Alexandros Briasoulis¹, Georgios Georgiopoulos¹, Anna Dimoula¹, Vasileios Papantoniou², Ioannis Papantoniou², Chaido Skiadaresi², Pipitsa Valsamaki³, Evangelos Repasos¹, Ioannis Petropoulos¹, Dimitrios Delialis¹, Alexandra Papathoma⁴, Georgios Koutsis⁵, Maria-Eirini Tselegkidi¹, Kimon Stamatelopoulos⁶, Efstathios Kastritis¹

Affiliations

¹ Amyloidosis Center, Department of Clinical Therapeutics, Alexandra General Hospital, National and Kapodistrian University of Athens Medical School, Athens, Greece.
² Nuclear Medicine Department, Alexandra General Hospital, Athens, Greece.
³ Nuclear Medicine Department, Alexandra General Hospital, Athens, Greece; Nuclear Medicine Department, Medical School, Democritus University of Thrace, Alexandroupolis, Greece.
⁴ Immunology Unit, Alexandra Hospital, Athens, Greece.
⁵ Neurogenetics Unit, 1st Department of Neurology, Eginitio University Hospital, National and Kapodistrian University of Athens, Athens, Greece.
⁶ Amyloidosis Center, Department of Clinical Therapeutics, Alexandra General Hospital, National and Kapodistrian University of Athens Medical School, Athens, Greece. Electronic address: ekastritis@med.uoa.gr.

PMID: 37805173
DOI: 10.1016/j.hjc.2023.09.019

Abstract

Background: Clinical characteristics and outcomes of patients with transthyretin amyloidosis cardiomyopathy (ATTR-CM) vary by region, necessitating the acquisition of country-specific evidence for proper management.

Methods: This is an observational study including sequential patients presenting in the Amyloidosis Reference Center of Greece, from 01/2014 to 12/2022. ATTR-CM was diagnosed by positive scintigraphy and exclusion of light-chain amyloidosis or positive biopsy typing. Genetic testing was performed in all cases.

Results: One-hundred and nine ATTR-CM patients were included (median age, 81 years) of which 15 carried TTR mutations (27% Val30Met). Most patients (82%) presented with heart failure and 59% with atrial fibrillation, while 10% had aortic stenosis. Importantly, 78 (71.6%) had clinically significant extracardiac manifestations (45% musculoskeletal disorder, 40% peripheral neuropathy and 33% gastrointestinal symptoms). Sixty-five (60%) received disease-specific treatment with tafamidis. Estimated median survival was 48 months; advanced NYHA class, National Amyloidosis Center stage, eGFR<45 ml/kg/1.73m², NT-pro-BNP>5000 pg/mL were associated with worse survival, while tafamidis treatment was associated with improved survival in patients with IVS≥ 12 mm.

Discussion: These are the first data describing the characteristics, management, and outcomes of patients with ATTR-CM in Greece, which could influence local guidelines.

Short title: Transthyretin cardiomyopathy in Greece.

Keywords: Greece; Transthyretin amyloidosis; cardiomyopathy; clinical characteristics; outcomes.