3.4. 1 Indications for genetic testing in athletes and its application in daily practice

A Mazzanti, K Underwood… - The ESC Textbook of …, 2019 - books.google.com
Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up
study of clinical screening and predictive genetic testing. Circulation 2013; 127: 48–54. van …

Sport practice in hypertrophic cardiomyopathy: running to stand still?

G Mascia, I Olivotto, J Brugada, E Arbelo… - International journal of …, 2021 - Elsevier
… During the last decades, the practice of sport and hypertrophic cardiomyopathy (HCM) were
considered as incompatible, since evidence was not sufficient to gauge the risk associated …

Evolutionary dissection of mtDNA hg H: A susceptibility factor for hypertrophic cardiomyopathy

CM Hagen, JL Elson, PL Hedley, FH Aidt… - Mitochondrial DNA …, 2020 - Taylor & Francis
… to confer differences in penetrance of two from three primary mutations that cause Leber’s
hereditary optic neuropathy (LHON), with there being an increased penetrance on a hg J …

The safety of exercise in individuals with cardiomyopathy

G Finocchiaro, S Sharma - Canadian Journal of Cardiology, 2016 - Elsevier
… have a benign clinical course with low penetrance and absence of … / P – phenotype over a
12-year follow-up, during which there … is incomplete and follow-up studies are relatively short. …

Genetics and Family Screening for Noncompaction Cardiomyopathy

JI van Waning, D Majoor-Krakauer - Noncompaction Cardiomyopathy, 2019 - Springer
… an unknown genetic predisposition with low penetrance that … Follow-up studies of these
relatives at low risk are needed to … carriers in familial hypertrophic cardiomyopathy by combined …

[HTML][HTML] Role of genetic testing in cardiomyopathies: Α primer for cardiologists

G Vogiatzi, G Lazaros, E Oikonomou… - World Journal of …, 2022 - ncbi.nlm.nih.gov
… , specifically as hypertrophic cardiomyopathy (HCM), dilated … all depending on the penetrance
of the disease-causing mutations. … with a 12-year follow-up, positive genetic test result was …

Guidelines for Sports Practice in Athletes with Cardiovascular Disease

A D'Silva, S Sharma - IOC Manual of Sports Cardiology, 2016 - Wiley Online Library
Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12year followup
study of clinical screening and predictive genetic testing. Circulation 2013; 127(1): 48–54. …

[HTML][HTML] Inherited Cardiomyopathies: Genetics and Clinical Genetic Testing

G Wang, R Ji, W Zou, DJ Penny… - Cardiovascular …, 2017 - scienceopen.com
… of cardiac disorders such as hypertrophic cardiomyopathy (… reduced penetrance and clinical
variability are common [8]. … without long-term follow-up [56]. With the rapid development in …

Genetics of paediatric cardiomyopathies

SM Ware - Current opinion in pediatrics, 2017 - journals.lww.com
… chain, as causative of hypertrophic cardiomyopathy (HCM) 25 … the penetrance of HCM was
6–7% during childhood but … Determining whether genotype is predictive of outcome is an …

Present Status of Brugada Syndrome: JACC State-of-the-Art Review

J Brugada, O Campuzano, E Arbelo… - Journal of the American …, 2018 - jacc.org
… and sex-related penetrance, and incomplete penetrance and … robust marker of poor prognosis
during follow-up (6% to 19% … with specific genetic mutations may be predictive, such as …