Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion

Area of Science:

• Cardiology
• Sports Medicine
• Genetics

Background:

• T-wave inversion (TWI) is common in cardiomyopathy patients and some athletes, often of unclear clinical significance.
• Up to 25% of black athletes and 5% of white athletes exhibit TWI without clear clinical cause.

Purpose of the Study:

• To evaluate the diagnostic yield of genetic testing in athletes with TWI, beyond standard clinical assessment.

Main Methods:

• Investigated 100 asymptomatic athletes (50 black, 50 white) aged 14-35 with TWI and normal echocardiograms.
• Utilized comprehensive clinical evaluation including exercise testing, ECGs, cardiac MRI, and a 311-gene panel for cardiomyopathies and ion channel disorders.

Main Results:

• 21% of athletes received a cardiac disease diagnosis clinically; 38.1% of these were gene-positive.
• Genetic testing identified mutations in 2.5% of athletes without a clinical phenotype.
• Newly diagnosed cardiomyopathy was more prevalent in white athletes (30%) than black athletes (12%).

Conclusions:

• Genetic testing for TWI in athletes has a low diagnostic yield compared to clinical evaluation.
• Genetic testing contributed to additional diagnoses in only 2.5% of cases, suggesting limited utility in routine practice.