Evaluation of the 2021 ESC recommendations for family screening in hereditary transthyretin cardiac amyloidosis,European Journal of Heart Failure

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Evaluation of the 2021 ESC recommendations for family screening in hereditary transthyretin cardiac amyloidosis
European Journal of Heart Failure ( IF 16.9 ) Pub Date : 2024-06-17 , DOI: 10.1002/ejhf.3339
Steven A Muller _{1,

2,

3} , Belén Peiró-Aventin _{3,

4} , Giulia Biagioni ₅ , Giacomo Tini ₆ , Giulia Saturi _{3,

7,

8} , Christina Kronberger ₉ , Anouk Achten ₁₀ , Stephan Dobner _{11,

12} , Wouter P Te Rijdt _{3,

13} , Alessio Gasperetti ₁₄ , Anneline S J M Te Riele _{1,

3} , Guerino G Varrà _{3,

15} , Alberto Ponziani _{3,

7,

8} , Alexander Hirsch _{16,

17} , Aldostefano Porcari _{3,

15} , Manon G van der Meer _{1,

3} , Mattia Zampieri ₅ , Pim van der Harst _{1,

3} , Andreas Kammerlander ₉ , Elena Biagini _{3,

7} , J Peter van Tintelen _{2,

3,

18} , Emanuele Barbato ₆ , Folkert W Asselbergs _{3,

19,

20,

21} , Silvia Menale ₅ , Christoph Gräni ₁₁ , Marco Merlo _{3,

15} , Michelle Michels _{3,

16} , Christian Knackstedt _{3,

10} , Christian Nitsche ₉ , Simone Longhi _{3,

7} , Beatrice Musumeci ₆ , Francesco Cappelli ₅ , Pablo Garcia-Pavia _{3,

4,

22,

23} , Marish I F J Oerlemans _{1,

3}

Affiliation

Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands.
Netherlands Heart Institute, Utrecht, The Netherlands.
Member of the European Reference Network for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart).
Department of Cardiology, Hospital Universitario Puerta de Hierro Majadahonda, IDIPHISA, CIBERCV, Madrid, Spain.
Tuscan Regional Amyloid Centre, Careggi University Hospital, Florence, Italy.
Cardiology, Department of Clinical and Molecular Medicine, Sapienza University of Rome, Rome, Italy.
Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.
Division of Cardiology, Department of Internal Medicine II, Medical University of Vienna, Vienna, Austria.
Department of Cardiology, Maastricht University, Cardiovascular Research Institute Maastricht (CARIM), Maastricht, The Netherlands.
Department of Cardiology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
3rd Medical Department of Cardiology and Intensive Care Medicine, Clinic Ottakring (former Wilhelminenhospital), Vienna, Austria.
Department of Genetics, Erasmus MC, Cardiovascular Institute, Thoraxcenter, Rotterdam, The Netherlands.
Division of Medicine, Department of Cardiology, Johns Hopkins University, Baltimore, MD, USA.
Center for Diagnosis and Treatment of Cardiomyopathies, Cardiothorarcovascular Department, Azienda Sanitaria Universitaria Giuliano-Isontina, University of Trieste, Trieste, Italy.
Department of Cardiology, Erasmus MC, Cardiovascular Institute, Thoraxcenter, Rotterdam, The Netherlands.
Department of Radiology and Nuclear Medicine, Erasmus MC, Rotterdam, The Netherlands.
Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Institute of Cardiovascular Science, Faculty of Population Health Sciences, University College London, London, UK.
Amsterdam University Medical Centers, Department of Cardiology, University of Amsterdam, Amsterdam, The Netherlands.
Health Data Research UK and Institute of Health Informatics, University College London, London, UK.
Universidad Francisco de Vitoria, Pozuelo de Alarcón, Spain.
Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.

The 2021 European Society of Cardiology (ESC) screening recommendations for individuals carrying a pathogenic transthyretin amyloidosis variant (ATTRv) are based on expert opinion. We aimed to (i) determine the penetrance of ATTRv cardiomyopathy (ATTRv-CM) at baseline; (ii) examine the value of serial evaluation; and (iii) establish the yield of first-line diagnostic tests (i.e. electrocardiogram, echocardiogram, and laboratory tests) as per 2021 ESC position statement.

中文翻译：

2021 年 ESC 对遗传性转甲状腺素蛋白心脏淀粉样变性家庭筛查建议的评估

2021 年欧洲心脏病学会 (ESC) 针对携带致病性运甲状腺素蛋白淀粉样变性变异 (ATTRv) 的个体的筛查建议基于专家意见。我们的目的是 (i) 确定基线时 ATTRv 心肌病 (ATTRv-CM) 的外显率； (ii) 审查系列评估的价值； (iii) 根据 2021 年 ESC 立场声明确定一线诊断测试（即心电图、超声心动图和实验室测试）的产量。

更新日期：2024-06-17

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