Molecular genetic testing in athletes: Why and when a position statement from the Italian Society of Sports Cardiology.

Autor: Castelletti S; Cardiology Department, IRCCS Istituto Auxologico Italiano, Milan, Italy., Zorzi A; Department of Cardiac, Thoracic and Vascular Sciences and Public Health, University of Padova, Padova, Italy., Ballardini E; Sports Medicine Centre, Gruppo Mantova Salus, Ospedale San Pellegrino, Mantova, Italy., Basso C; Department of Cardiac, Thoracic and Vascular Sciences and Public Health, University of Padova, Padova, Italy., Biffi A; Med-Ex, Medicine and Exercise srl, Medical Partner Scuderia Ferrari, Rome, Italy., Brancati F; Department of Life, Health and Environmental Sciences, University of L'Aquila, Aquila, Italy., Cavarretta E; Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Latina, Italy; Mediterranea Cardiocentro, Naples, Italy., Crotti L; Cardiology Department, IRCCS Istituto Auxologico Italiano, Milan, Italy; Center for Cardiac Arrhythmias of Genetic Origin, Istituto Auxologico Italiano, IRCCS, Milan, Italy., Contursi M; Sports Cardiology Unit, Centro Polidiagnostico Check-up, Salerno, Italy., D'Aleo A; Cardiologia AUSL 7 Distretto di Modica, Ragusa, Italy., D'Ascenzi F; Division of Cardiology, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Delise P; Division of Cardiology, Hospital of Peschiera del Garda, Veneto, Italy., Dello Russo A; Cardiology and Arrhythmology Clinic, University Hospital 'Lancisi-Umberto I- Salesi', Ancona, Italy, Department of Biomedical Sciences and Public Health, Marche Polytechnic University, Ancona, Italy., Gazale G; Center of Sport Medicine and Sports Cardiology, ASL 1, Sassari, Italy., Mos L; San Antonio Hospital, San Daniele del Friuli, Udine, Italy., Novelli V; Centro Cardiologico Monzino, IRCCS, Milan, Italy., Palamà Z; Department of Life, Health and Environmental Sciences, University of L'Aquila, Aquila, Italy; Casa di Cura Villa Verde, Taranto, Italy., Palermi S; Med-Ex, Medicine and Exercise srl, Medical Partner Scuderia Ferrari, Rome, Italy., Palmieri V; Sports Medicine Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Patrizi G; Department of Cardiology, Carpi Hospital, Carpi, Italy., Pelliccia A; Institute of Sport Medicine and Science, Rome, Italy., Pilichou K; Department of Cardiac, Thoracic and Vascular Sciences and Public Health, University of Padova, Padova, Italy., Romano S; Department of Life, Health and Environmental Sciences, University of L'Aquila, Aquila, Italy., Sarto P; Sports Medicine Unit, ULSS2, Treviso, Treviso, Italy., Schwartz PJ; Center for Cardiac Arrhythmias of Genetic Origin, Istituto Auxologico Italiano, IRCCS, Milan, Italy., Tiberi M; Department of Public Health, Azienda Sanitaria Unica Regionale Marche AV 1, Pesaro, Italy., Zeppilli P; Sports Medicine Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Corrado D; Department of Cardiac, Thoracic and Vascular Sciences and Public Health, University of Padova, Padova, Italy. Electronic address: domenico.corrado@unipd.it., Sciarra L; Department of Life, Health and Environmental Sciences, University of L'Aquila, Aquila, Italy.
Jazyk: angličtina
Zdroj: International journal of cardiology [Int J Cardiol] 2022 Oct 01; Vol. 364, pp. 169-177. Date of Electronic Publication: 2022 Jun 01.
DOI: 10.1016/j.ijcard.2022.05.071
Abstrakt: Molecular genetic testing is an increasingly available test to support the clinical diagnosis of inherited cardiovascular diseases through identification of pathogenic gene variants and to make a preclinical genetic diagnosis among proband's family members (so-called "cascade family screening"). In athletes, the added value of molecular genetic testing is to assist in discriminating between physiological adaptive changes of the athlete's heart and inherited cardiovascular diseases, in the presence of overlapping phenotypic features such as ECG changes, imaging abnormalities or arrhythmias ("grey zone"). Additional benefits of molecular genetic testing in the athlete include the potential impact on the disease risk stratification and the implications for eligibility to competitive sports. This position statement of the Italian Society of Sports Cardiology aims to guide general sports medical physicians and sports cardiologists on clinical decision as why and when to perform a molecular genetic testing in the athlete, highlighting strengths and weaknesses for each inherited cardiovascular disease at-risk of sudden cardiac death during sport. The importance of early (preclinical) diagnosis to prevent the negative effects of exercise on phenotypic expression, disease progression and worsening of the arrhythmogenic substrate is also addressed.
(Copyright © 2022. Published by Elsevier B.V.)
Databáze: MEDLINE
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