Date of Award


Document Type

Thesis - Open Access

Degree Name

MS Human Genetics


Human Genetics Graduate Program


Sudden cardiac death (SCD), defined as an unexpected death due to cardiac causes is the leading cause of non-random death in young athletes (Harmon et al., 2011). Current statistics suggest that 1 in 200,000 competitors experience SCD (Firoozi et al., 2003). Early detection of individuals with cardiac disease, such as Hypertrophic Cardiomyopathy (HCM) and Long QT syndrome (LQTS), can help prevent SCD, however, the heterogeneous presentation of heritable cardiovascular conditions makes them difficult to diagnose and prognose (O’Mahony et al., 2014). Thus, it is difficult to create universal activity restriction guidelines for at-risk athletes. This study examines practice variation among cardiologists with regard to genetic testing of competitive athletes for risk of SCD and subsequent activity restriction recommendations. To our knowledge, there are no previous studies that examine these specific clinical practices among cardiology providers. A survey was sent out through the ACC Sports and Exercise Section email list and a University of Vermont Medical Center listserv. In total, the listservs were comprised of ~1800 cardiologists. The survey received 73 responses, 68 of which were completed in entirety. Four knowledge-based questions were asked to create a rating scale. A significant proportion of cardiologists answered the knowledge question regarding variants of uncertain significance (VUS’s) incorrectly (~25%). These results suggest that physicians have some sense of uncertainty associated with VUS’s compounded with an unfamiliarity with practice guidelines as they relate to VUS’s. Regarding activity restriction, there is no single answer regarding recommendations that all cardiologists chose for either LQTS scenario, a clinical diagnosis compared to diagnosis-causing mutation and no clinical diagnosis. If a patient had a clinical diagnosis of HCM, only half of respondents chose to strongly recommend activity restriction; we anticipated the proportion being closer to 100%. The results indicate that there is a lack of knowledge pertaining to VUS’s as well as a lack of consensus with regards to activity restriction recommendations pertaining to HCM/LQTS.

Included in

Genetics Commons