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 (MFS). 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 absence of non-cardiac findings of a connective tissue disorder. Subject #1 had a revised Ghent systems (RGS) score of 2 and a normal aortopathy gene panel. Subject #2 had a RGS score of 1 and genetic testing revealed a de novo disease causing mutation in the gene encoding fibrillin-1 (FBN1). Subject #3 had a RGS score of 4.0 and had a normal aortopathy gene panel. Conclusions Despite variable clinical features of MFS, dilated sinuses of Valsalva were found in 4.9% of the athletes. A disease-causing mutation in the FBN1 gene was identified in Subject #2, who had the lowest RGS but the largest aortic root measurement. Subjects #1 and #3, with the highest RGS, had a normal aortopathy gene panel. Our findings provide further evidence suggesting that a cardiac evaluation, including a screening echocardiogram, should be performed on all elite tall adult athletes independent of other physical findings. Genetic testing should be considered for athletes with dilated sinuses of Valsalva (male >4.2cm, female >3.4cm), regardless of other extra-cardiac findings.

Combined Non-Invasive Cardiac Imaging and Genetic Testing of Elite Volleyball Players: A Ten-Year Experience

“…He had moderate dilation of the sinuses of Valsalva (4.5cm). Targeted DNA sequencing of the Fibrillin-1 gene revealed a likely disease-causing de novo loss of function mutation [ 5 ]. He subsequently retired from playing competitive volleyball.…”