CVD genetic testing in athletes may be viable when deep clinical factors fail to diagnose
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In an Italian study of elite and amateur athletes with suspected inherited CVD, researchers demonstrated that the presence of more than three clinical markers was highly indicative of a positive diagnosis from genetic testing for CVD.
According to the study published in the European Journal of Preventive Cardiology, these clinical markers included a family history of CVD, ECG abnormalities, echocardiogram abnormalities and nonsustained ventricular tachycardia during an exercise stress test.
“The importance of pre-participation screening and risk stratification of athletes has been underlined in recent documents by the European Association of Preventive Cardiology, which indicate very carefully the type of sport and the length of time these sports could be carried out in athletes with coronary artery diseases or arterial hypertension,” Giuseppe Limongelli, MD, PhD, associate professor at AO dei Colli-Monaldi Hospital in Naples, Italy, and colleagues wrote. “On the other hand, the natural history of cardiomyopathies and channelopathies is characterized by a concealed phase, where subclinical electrical and/or morphological abnormalities may precede, even for a long time period, overt clinical disease, making it challenging to predict the actual risk of life-threatening events, in particular those associated with exercise and sport participation.”
For this analysis, researchers selected 30 elite and 31 amateur athletes under the suspicion of inherited CVD from two separate centers. All participants underwent standard clinical evaluation and genetic testing of up to 138 genes. Athletes with one or more clinical markers were selected for a deeper clinical evaluation that included 24-hour ECG monitoring, cardiac MRI, signal average ECG or flecainide test.
Researchers defined elite athletes as those who underwent regular year-round training (6 to 20 hours per week) and amateur athletes as those who underwent regular exercise programs and sport activities (less than 6 hours per week, 10 months per year).
Overall, 10% of the cohort had a CVD diagnosis made possible by deeper clinical evaluation as signaled by one or more clinical marker. Genetic testing allowed a definite diagnosis in 13% of the study population.
Moreover, the identification of more than three clinically relevant markers for inherited CVD was associated with greater probability for a positive genetic diagnosis (75%) compared with the presence of fewer clinical markers (two markers, 14.2%; one marker, 8.1%, P = .004).
“Our findings support the selective indication of genetic testing for diagnostic purposes, in both elite and amateur athletes, when a comprehensive clinical screening is suspicious but fails to identify a cardiac disease with certainty,” the researchers wrote. “The decision to proceed to genetic testing should be clearly outlined to the athlete during pre-test genetic counseling, after a case-by-case discussion, better when done by a multidisciplinary team of experts.”
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