Utility of Genetic Testing in Elite Volleyball Players with Aortic Root Dilation.

ABSTRACT: Basketball and volleyball attract individuals with a characteristic biophysical profile, mimicking features of Marfan syndrome. Consequently, identification of these abnormalities can be lifesaving.

Purpose

To determine how physical examination, echocardiography, and genetic screening can identify elite volleyball players with a previously undiagnosed aortopathy.

Methods

We have performed cardiac screening on 90 US Volleyball National Team members and identified four individuals with dilated sinuses of Valsalva. This case series reports on three individuals who underwent a comprehensive genetics evaluation, including gene sequencing.

Results

Cardiac screening combined with genetic testing can identify previously undiagnosed tall athletes with an aortopathy, in the abse

SUBMITTER: Herrick N 

PROVIDER: S-EPMC5474143 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature