Aortic Root Enlargement in a Young Athlete.

BACKGROUND

Aortic enlargement in athletes presents multiple clinical challenges including defining abnormal aortic size, the role of genetic testing, and counseling on sports participation.

CASE SUMMARY: A 23-year-old former collegiate volleyball player was incidentally discovered to have an aortic root diameter of 4.4 cm. Genetic testing was negative for any variants associated with heritable thoracic aortic disease (HTAD). Concern remains for HTAD, and corresponding physical activity modifications and a surveillance plan have been established for this athlete.

DISCUSSION: Genetic testing for HTAD has limitations as causative mutations are identified in only a minority of suspected cases. While aortic enlargement may be a component of athletic remodeling, reference data in athlete cohorts demonstrate that significant aortic dilation in young athletes is uncommon.

TAKE-HOME MESSAGES: Synthesizing reference data from athletic cohorts with established guidelines is essential for navigating the clinical challenge of distinguishing athletic remodeling from aortic pathology in athletes with increased aortic dimensions.