Integrated cardiac, endocrine, and genetic assessment in adolescent basketball players

Athletes pursuing a professional basketball career are routinely evaluated by sports physicians using laboratory testing, electrocardiography, and exercise stress assessment. However, such screening may not detect certain cardiovascular or connective tissue disorders. This limitation is particularly relevant in basketball, where tall stature is advantageous but may also signal underlying conditions such as cardiomyopathies, which can predispose athletes to life-threatening events during intense physical exertion, including sudden cardiac death. This study aimed to investigate the phenotypic, endocrine, cardiac, and genetic characteristics of adolescent basketball players to identify possible causes of tall stature and associated health risks.

We examined 55 youth basketball players (30 females, median age 17 years and height +2.4 standard deviations). Each underwent detailed endocrine and anthropometric examinations, echocardiography, and genetic testing (number of X and Y chromosomes, SHOX gene dosage analysis, and a custom next-generation sequencing panel of 786 genes related to growth).

Echocardiographic abnormalities were observed in 4/55 (7%) athletes, while an additional 5/55 (9%) probands displayed echocardiographic findings resembling physiological adaptation to extensive physical activities. Clinically relevant dysmorphic features were identified in 26/55 (47%), and mild dysmorphia was present in 21/55 (38%) participants. No endocrine dysfunctions were detected. One proband (1.8%) was diagnosed with a monogenic cause of tall stature carrying a pathogenic variant in the FBN1 gene, causing Marfan syndrome.

Echocardiographic abnormalities were observed in a small proportion of probands, as were monogenic causes of tall stature. However, targeted evaluation, including echocardiography, anthropometry, and genetic testing, should be considered in selected individuals.