title: Something Old, Something New: Using Family History and Genetic Testing to Diagnose and Manage Athletes with Inherited Cardiovascular Disease.
abstract: A primary objective of the preparticipation physical examination is to identify athletes at increased risk for sudden cardiac arrest (SCA). Review of an athlete's family history may identify those at risk for SCA. Genetic testing for inherited cardiovascular disease has emerged as a valuable addition to the repertoire of cardiologists facing the decision of clearing athletes with concerning clinical signs and/or family histories. Genetic testing may lead to various outcomes for an athlete including: reassurance, diagnosis in those with borderline clinical features, finding disease predisposition prior to the onset of clinical signs (ie, genotype-positive/phenotype-negative), or continued uncertainty.
authors.affiliation: Division of Genetics, Department of Pediatrics, University of Virginia Health System, Box 800386, Charlottesville, VA 22908, USA. Electronic address: mjthomas@virginia.edu.
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Thomas
authors.affiliation: Division of Cardiology, Department of Medicine, University of Virginia Health System, Box 800158, Charlottesville, VA 22908, USA; Division of Cardiology, Department of Pediatrics, University of Virginia Health System, Box 800386, Charlottesville, VA 22908, USA; Department of Athletics, University of Virginia, Sports Medicine, McCue Center, PO Box 400834, Charlottesville, VA 22904, USA.
authors.forename: Robert W
authors.initials: RW
authors.lastname: Battle
mesh_terms: D002318:Cardiovascular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D016757:Death, Sudden, Cardiac / Q000517:prevention & control*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D010641:Phenotype; D010808:Physical Examination; D018570:Risk Assessment; D012307:Risk Factors
keywords: Athletes; Cardiovascular diseases/genetics; Genetic counseling; Genetic predisposition to disease; Genetic testing; Medical history taking; Pedigree; Sudden cardiac arrest