Abstract
There is an overlap between the physiological cardiac remodeling associated with training in athletes, the so-called athlete’s heart, and mild forms of hypertrophic cardiomyopathy (HCM), the most common hereditary cardiac disease. HCM is often accompanied by unfavorable outcomes including a sudden cardiac death in the adolescents. Because one of the initial signs of HCM is abnormality in electrocardiogram (ECG), athletes may need to monitor for ECG findings to prevent any unfavorable outcomes. HCM is caused by mutations in genes for sarcomere proteins, but there is no report on the systematic screening of gene mutations in athletes. One hundred and two genetically unrelated young Japanese athletes with abnormal ECG findings were the subjects for the analysis of four sarcomere genes, MYH7, MYBPC3, TNNT2 and TNNI3. We found that 5 out of 102 (4.9%) athletes carried mutations: a heterozygous MYH7 Glu935Lys mutation, a heterozygous MYBPC3 Arg160Trp mutation and another heterozygous MYBPC3 Thr1046Met mutation, all of which had been reported as HCM-associated mutations, in 1, 2 and 2 subjects, respectively. This is the first study of systematic screening of sarcomere gene mutations in a cohort of athletes with abnormal ECG, demonstrating the presence of sarcomere gene mutations in the athlete’s heart.
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Acknowledgements
We thank Ms Yukiko Ueda and Nana Ohkubo for their technical assistance and clinicians for their contribution in blood sampling and clinical examination of HCM patients and family relatives. This work was supported in part by Grant-in-Aids from the Ministry of Education, Culture, Sports, Science and Technology, Japan (25293181, 25670172 and 26460407); a research grant for Idiopathic Cardiomyopathy from the Ministry of Health, Labor and Welfare, Japan; and a research grant from Association Française contre les Myopathies. The study was also supported by Joint Usage/Research Program of Medical Research Institute, Tokyo Medical and Dental University and a support for women researchers from the Tokyo Medical and Dental University.
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Kadota, C., Arimura, T., Hayashi, T. et al. Screening of sarcomere gene mutations in young athletes with abnormal findings in electrocardiography: identification of a MYH7 mutation and MYBPC3 mutations. J Hum Genet 60, 641–645 (2015). https://doi.org/10.1038/jhg.2015.81
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DOI: https://doi.org/10.1038/jhg.2015.81
