Key result
Genetic testing provided a definite diagnosis in 13% of athletes with suspected inherited cardiac disease, with a higher yield (75%) in those with >3 clinical markers (p=0.004).
Why the study?
The study sought to assess the value of genetic testing added to comprehensive clinical evaluation in the diagnostic work-up of athletes referred for suspected inherited cardiac disease after pre-participation screening.
Does genetic testing in addition to clinical evaluation improve the diagnosis of inherited cardiac disease in athletes with clinical suspicion?
Observational (n=61)
Yes
Does genetic testing in addition to clinical evaluation improve the diagnosis of inherited cardiac disease in athletes with clinical suspicion?
Absolute Event Rate: 13% vs 10%
A combined clinical and genetic evaluation can identify inherited cardiac disease in about 25% of athletes with clinical suspicion, with higher diagnostic yield in those with multiple clinical markers.
May support selective genetic testing in athletes with multiple markers; leaves open routine use pending prospective validation.
AIMS: The purpose of this study was to assess the value of genetic testing in addition to a comprehensive clinical evaluation, as part of the diagnostic work-up of elite and/or amateur Italian athletes referred for suspicion of inherited cardiac disease, following a pre-participation screening programme. METHODS: Between January 2009-December 2018, of 5892 consecutive participants, 61 athletes were investigated: 30 elite and 31 amateur athletes. Elite and amateur athletes were selected, on the basis of clinical suspicion for inherited cardiac disease, from two experienced centres for a comprehensive cardiovascular evaluation. Furthermore, the elite and amateur athletes were investigated for variants at DNA level up to 138 genes suspected to bear predisposition for possible cardiac arrest or even sudden cardiac death. RESULTS: Of these 61 selected subjects, six (10%) had diagnosis made possible by a deeper clinical evaluation, while genetic testing allowed a definite diagnosis in eight (13%). The presence of >3 clinical markers (i.e. family history, electrocardiogram and/or echocardiographic abnormalities, exercise-induced ventricular arrhythmias) was associated with a higher probability of positive genetic diagnosis (75%), compared with the presence of two or one clinical markers (14.2%, 8.1%, respectively, p-value = 0.004). CONCLUSION: A combined clinical and genetic evaluation, based on the subtle evidence of clinical markers for inherited disease, was able to identify an inherited cardiac disease in about one-quarter of the examined athletes.
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Limongelli et al. (2020) conducted an observational in Suspicion of inherited cardiac disease (n=61). Genetic testing vs. Clinical evaluation alone was evaluated on Definite diagnosis of inherited cardiac disease. Genetic testing provided a definite diagnosis in 13% of athletes with suspected inherited cardiac disease, with a higher yield (75%) in those with >3 clinical markers (p=0.004).
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