Dr. Philippe Charron,
A 21-year-old man was addressed to the department because abnormal ECG (see Figure 1). He has no symptoms and no significant medical history. He is a professional soccer player of African origin (Senegal), 185 cm, 74 kg. Physical examination is unremarkable, blood pressure was 135/75 mmHg. There is no family history of premature cardiac disease or premature cardiac death.
A first echocardiography observed mild hypertrophy (13 mm). Two-dimensional echocardiography performed in our institution exhibited only mild homogeneous hypertrophy (11 mm both at septum and posterior wall level) as there was accessory right trabeculation which should not be taken into account (fig. 2a-c). Transmitral Doppler was normal (E/A > 1), left atrium was not enlarged (34 mm) (fig. 2a). Left end diastolic diameter was 45 mm (fig. 2c). There was no sub-aortic gradient at rest.
What do you think about the diagnosis of this patient ? Do you authorize professional sport or not ? Which further investigation would you perform? The main problem is to distinguish athlete’s heart from a mild form of hypertrophic cardiomyopathy in this professional soccer player.1,2 ECG exhibited electrical hypertrophy (Sokolow-Lyon voltage 4mV) but this is not unfrequent in athletes, especially of African origin. There were however negative T wave in D3 and VF. Echocardiography did not confirmed significant hypertrophy, but left ventricular diameter was somewhat smaller than expected. At that stage it was difficult to conclude and additional examinations were performed before sport practice could be continued. Pulse Doppler echocardiography demonstrated normal myocardial velocities, especially E wave velocity at mitral annulus (lateral corner 19 cm/s; average velocities at four corners 12 cm/s). Holter-ECG was unremarkable. Exercise test was performed (270 W) with normal blood pressure profile, no arrhythmia. Maximal oxygen uptake was 39 ml/kg/mn (or 90% of the maximal expected value). Echocardiography performed during exercise test did not exhibit any sub aortic obstruction. We recommended to stop exercise training during three months and to perform again ECG and echocardiography. There was no significant difference (but we are not sure that sport was really stopped). We recommended to perform cardiac examination in the family, with ECG and echocardiography. No patient with HCM was diagnosed. We also performed genetic testing with direct sequencing of the five most frequent genes (MYH7, MYBPC3, TNNT2, TNNI3, MYL2). A heterozygous mutation was identified in the MYBPC3 gene (E571X mutation). This nonsense mutation is expected to lead to drastic changes with truncated protein. The results of genetic testing lead to the conclusion that mild cardiac abnormalities were related to a mild form of HCM and not to athlete’s heart. Although the decision is difficult and scientific background is scarce, we recommended to definitely stop soccer. This specific sport is indeed dramatically associated to sudden death in HCM. European guidelines recommend to stop competitive sport in the presence of a mutation, even before hypertrophy expression.3 US guidelines are less strict.4,5
1- Pelliccia A, Di Paolo FM, Maron BJ. The athlete's heart: remodeling, electrocardiogram and preparticipation screening. Cardiol Rev. 2002 Mar-Apr;10(2):85-90. 2- Maron BJ, McKenna WJ, Danielson GK, et al. American College of Cardiology/European Society of Cardiology: Clinical Expert Consensus Document on Hypertrophic Cardiomyopathy. Eur Heart J. 2003;24(21),1965-91. 3- Pelliccia A, Fagard R, Bjørnstad HH, et al. Recommendations for competitive sports participation in athletes with cardiovascular disease: a consensus document from the Study Group of Sports Cardiology of the Working Group of Cardiac Rehabilitation and Exercise Physiology and the Working Group of Myocardial and Pericardial Diseases of the European Society of Cardiology. Eur Heart J. 2005 Jul;26(14):1422-45. 4- Maron BJ, Ackerman MJ, Nishimura RA, et al. Task Force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan syndrome. J Am Coll Cardiol. 2005 Apr 19;45(8):1340-5. 5- Pelliccia A, Zipes DP, Maron BJ. Bethesda Conference #36 and the European Society of Cardiology Consensus Recommendations revisited a comparison of U.S. and European criteria for eligibility and disqualification of competitive athletes with cardiovascular abnormalities. J Am Coll Cardiol. 2008 Dec 9;52(24):1990-6.
By Dr Philippe Charron, Department of Cardiology, Pitié-Salpêtrière Hospital and Paris 6 University, Paris, France
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