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 …
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 …
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
… 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 …
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. …
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 …
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 …
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 12‐year follow‐up
study of clinical screening and predictive genetic testing. Circulation 2013; 127(1): 48–54. …
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 …
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 …
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 …
during follow-up (6% to 19% … with specific genetic mutations may be predictive, such as …