Author + information
- Christian van der Werf, MD,
- Irene M. van Langen, MD, PhD and
- Arthur A.M. Wilde, MD, PhD⁎ ()
- ↵⁎Academic Medical Center, University of Amsterdam, Heart Failure Research Center, Department of Cardiology, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands
With great interest we read the review by Corrado et al. (1) on pre-participation screening (PPS) of young competitive athletes to prevent sudden cardiac death (SCD).
It is important that Corrado et al. (1) briefly mentioned the possibility of cascade screening of relatives of a competitive athlete with an inherited heart disease. Unfortunately, this topic is frequently neglected in articles on PPS. As the authors state, identifying other affected family members with subsequent high-risk stratification and treatment can save additional lives.
Hypertrophic cardiomyopathy (HCM), which can be detected by PPS (1), is the most important cause of SCD in young athletes. At present, a mutation is identified in 30% to 61% of HCM patients (2). The identification of a disease causing mutation enables cascade screening within a family. With the developments in diagnostic tools for DNA analysis (e.g., high-throughput techniques), the proportion of mutations identified will probably increase. In case no mutation is found (yet) in an HCM patient, cardiological examination of first-degree relatives is the second best option.
One could argue that affected family members identified by cascade screening should be taken more into account when discussing the efficacy of PPS. In any case, performing cascade screening after identification of an affected athlete by PPS could contribute to reducing the incidence of SCD in the general population.
Moreover, implementing and offering an adequate nationwide family screening program to relatives of young SCD victims or patients with inherited heart disease could indentify most individuals and families in the country at risk of SCD. This would potentially decrease the benefit of PPS in competitive athletes, because this target group would become an even more selected healthy population.
- American College of Cardiology Foundation