{"title":"希腊转甲状腺素淀粉样变性心肌病:来自国家转诊中心的临床见解。","authors":"","doi":"10.1016/j.hjc.2023.09.019","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><p>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.</p></div><div><h3>Methods</h3><p>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.</p></div><div><h3>Results</h3><p>In total, 109 ATTR-CM patients were included (median age, 81 years) of which 15 carried <em>TTR</em> 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/1.73 m<sup>2</sup>, 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.</p></div><div><h3>Discussion</h3><p>These are the first data describing the characteristics, management, and outcomes of patients with ATTR-CM in Greece, which could influence local guidelines.</p></div>","PeriodicalId":55062,"journal":{"name":"Hellenic Journal of Cardiology","volume":"79 ","pages":"Pages 25-34"},"PeriodicalIF":2.7000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1109966623001902/pdfft?md5=3a3da55ff2cbab019ccb1dba4a84b69c&pid=1-s2.0-S1109966623001902-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Transthyretin amyloidosis cardiomyopathy in Greece: Clinical insights from the National Referral Center\",\"authors\":\"\",\"doi\":\"10.1016/j.hjc.2023.09.019\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><p>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.</p></div><div><h3>Methods</h3><p>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.</p></div><div><h3>Results</h3><p>In total, 109 ATTR-CM patients were included (median age, 81 years) of which 15 carried <em>TTR</em> 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/1.73 m<sup>2</sup>, 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.</p></div><div><h3>Discussion</h3><p>These are the first data describing the characteristics, management, and outcomes of patients with ATTR-CM in Greece, which could influence local guidelines.</p></div>\",\"PeriodicalId\":55062,\"journal\":{\"name\":\"Hellenic Journal of Cardiology\",\"volume\":\"79 \",\"pages\":\"Pages 25-34\"},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2024-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S1109966623001902/pdfft?md5=3a3da55ff2cbab019ccb1dba4a84b69c&pid=1-s2.0-S1109966623001902-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Hellenic Journal of Cardiology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1109966623001902\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hellenic Journal of Cardiology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1109966623001902","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
Transthyretin amyloidosis cardiomyopathy in Greece: Clinical insights from the National Referral Center
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
In total, 109 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/1.73 m2, 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.
期刊介绍:
The Hellenic Journal of Cardiology (International Edition, ISSN 1109-9666) is the official journal of the Hellenic Society of Cardiology and aims to publish high-quality articles on all aspects of cardiovascular medicine. A primary goal is to publish in each issue a number of original articles related to clinical and basic research. Many of these will be accompanied by invited editorial comments.
Hot topics, such as molecular cardiology, and innovative cardiac imaging and electrophysiological mapping techniques, will appear frequently in the journal in the form of invited expert articles or special reports. The Editorial Committee also attaches great importance to subjects related to continuing medical education, the implementation of guidelines and cost effectiveness in cardiology.