ArticleEuropean journal of preventive cardiology2021
Yield and clinical significance of genetic screening in elite and amateur athletes.
Article in European journal of preventive cardiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- Is the Elite Female Athlete's Pelvic Floor Stronger?Journal of clinical medicine · 2024Article
- A narrative review of inherited arrhythmogenic syndromes in young population: role of genetic diagnosis in exercise recommendations.BMJ open sport & exercise medicine · 2024Review
- Specific alterations of regional myocardial work in strength-trained athletes using anabolic androgenic steroids compared to athletes with genetic hypertrophic cardiomyopathy.Journal of sport and health science · 2023Article
- Athlete's Heart: A Cardiovascular Step-By-Step Multimodality Approach.Reviews in cardiovascular medicine · 2023Review
- An Overview of Molecular Mechanisms in Fabry Disease.Biomolecules · 2022Review
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- Thoracic Aortic Dilation: Implications for Physical Activity and Sport Participation.Diagnostics (Basel, Switzerland) · 2022Review
- Clinical genetic testing in four highly suspected pediatric restrictive cardiomyopathy cases.BMC cardiovascular disorders · 2022Article
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- Current Updates on Expanded Carrier Screening: New Insights in the Omics Era.Medicina (Kaunas, Lithuania) · 2022Review
- Metabolic Treatment of Wolfram Syndrome.International journal of environmental research and public health · 2022Review
- Multimodality Imaging in Cardiomyopathies with Hypertrophic Phenotypes.Journal of clinical medicine · 2022Review
- The Biological Role of Vitamins in Athletes' Muscle, Heart and Microbiota.International journal of environmental research and public health · 2022Review
- Multi-gene panel testing increases germline predisposing mutations' detection in a cohort of breast/ovarian cancer patients from Southern Italy.Frontiers in medicine · 2022Article
- Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.Diagnostics (Basel, Switzerland) · 2021Article
- Comprehensive Molecular Analysis ofDiagnostics (Basel, Switzerland) · 2021Article
- Incremental value of genetic testing for diagnosis of heart conditions in athletes.European journal of preventive cardiology · 2021Article
- NGS Analysis Revealed Digenic HeterozygousDiagnostics (Basel, Switzerland) · 2021Article
- Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.International journal of molecular sciences · 2021Review
- Review
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20 authors.
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No grant is acknowledged in the PubMed record.
Abstract
aimsThe purpose of this study was to assess the value of genetic testing in addition to a comprehensive clinical evaluation, as part of the diagnostic work-up of elite and/or amateur Italian athletes referred for suspicion of inherited cardiac disease, following a pre-participation screening programme.
methodsBetween January 2009-December 2018, of 5892 consecutive participants, 61 athletes were investigated: 30 elite and 31 amateur athletes. Elite and amateur athletes were selected, on the basis of clinical suspicion for inherited cardiac disease, from two experienced centres for a comprehensive cardiovascular evaluation. Furthermore, the elite and amateur athletes were investigated for variants at DNA level up to 138 genes suspected to bear predisposition for possible cardiac arrest or even sudden cardiac death.
resultsOf these 61 selected subjects, six (10%) had diagnosis made possible by a deeper clinical evaluation, while genetic testing allowed a definite diagnosis in eight (13%). The presence of >3 clinical markers (i.e. family history, electrocardiogram and/or echocardiographic abnormalities, exercise-induced ventricular arrhythmias) was associated with a higher probability of positive genetic diagnosis (75%), compared with the presence of two or one clinical markers (14.2%, 8.1%, respectively, p-value = 0.004).
conclusionA combined clinical and genetic evaluation, based on the subtle evidence of clinical markers for inherited disease, was able to identify an inherited cardiac disease in about one-quarter of the examined athletes.
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