Genetic evaluation in athletes and cascade family screening

Response to ‘Yield and clinical significance of genetic screening in elite and amateur athletes’, by Limongelli et al., doi:10.1177/2047487320934265. We congratulate Limongelli et al.1 on their recent publication evaluating genetic testing in athletes with suspected inherited cardiac disorders. The study corroborates findings of previous work published by our group,2 demonstrating that a minority of athletes harbour pathogenic disease-causing mutations. The inclusion criteria and demographics of these two studies differ; we evaluated 100 asymptomatic athletes (50 Caucasian and 50 Afro-Caribbean), with T-wave inversion being a mandatory inclusion criterion. In contrast, Limongelli et al. evaluated 61 athletes (their ethnicity is not reported) requiring additional clinical evaluation based on: (i) family history of cardiac arrest or sudden cardiac death; (ii) electrocardiogram (ECG) abnormalities as defined by the 2010 consensus criteria3; (iii) echocardiographic abnormalities suggestive of cardiomyopathy; or (iv) non-sustained ventricular tachycardia during exercise testing....