Abstract
Background and objectivesTo study the frequency of genetic mutations related to genetic heart disease among young patients admitted for syncope during sport practice. Patients and methodsA case series study that included patients ≤45 years admitted for syncope during sport practice during 2010–2011. We collected demographic and clinical variables, genetic tests mutations and final clinical diagnosis. ResultsA genetic test was performed in 46 (76.7%) of 60 patients evaluated. The genetic test was positive in 12 (26%; 95% CI 15.6–40.3) patients; 10 (21.7%) had PKP2 mutation related to arrhythmogenic right ventricular dysplasia mutation, one (2.2%) KCNQ1 mutation and one (2.2%) SCN5A mutation related to channelopathies. The genetic test was positive in 11 (35.5%) cases of undetermined syncope and one (50%) case of cardiac syncope, being negative in all cases with neuromediated syncopes (p=.037). ConclusionsGene mutations are common in young patients suffering from syncope during sports, especially in those with cardiac or undetermined aetiology.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
