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Prof. Maddalena Piro
Prof. Massimo Fioranelli,
In screening for HCM in athletes, European investigators promote routine 12-lead ECGs whereas the US's customary practice is limited to history and physical examinations. After a look at the genetic roots of the disorder, the relevant clinical and echocardiographic assessments, and the observations to base stratification on, the case for systematic 12-lead ECG, and the consensus criteria will be reviewed.
Hypertrophic Cardiomyopathy (HCM) causes disability and death in patients of all ages, with the most devastating component of its natural history being sudden death in youth: For example in American athletes under the age of 30, HCM is the first cause of sudden death (36% of total) (1). Thus, there is general agreement that preparticipation screening in all athletes will increase the number of suspected cases of HCM and allow more definitive diagnoses. However, screening modes differ:
Cardiologists, fellows and sports medicine physicians must make eligibility or disqualification decisions to prevent sudden cardiac death. Consensus criteria on these determinations have proved useful to the practising community. After a look at the genetic roots of the disorder, the relevant clinical and echocardiographic assessments, and the observations to base stratification on, the case for systematic 12-lead ECG, and the consensus criteria will be reviewed.
There is marked heterogeneity in the clinical expression, natural history and prognosis in HCM:
Thus, molecular defects responsible for HCM are usually different in unrelated individuals (Table 1), and many other genes and mutations, each accounting for a small proportion of familial HCM, remain to be identified.Table 1: Genetics of HCM(by Chapter 19, Sport Cardiology Textbook, Springer 2012).
A) CriteriaClinical diagnosis of HCM is based on the echocardiographic observation of the typical feature of the disease:
The signs suggestive of a dynamic left ventricular outflow tract (LVOT) obstruction such as a systolic heart murmur, a systolic anterior motion (SAM) of the mitral valve or a premature closure of the aortic valve, do not, however, represent diagnostic criteria: indeed, most patients do not have LV outflow tract obstruction at rest and most of the well-documented physical findings (eg, loud systolic heart murmur and bifid arterial pulse) are limited to patients with outflow gradients. LVH nevertheless is an independent risk factor for sudden death in young people affected by HCM and is variable in distribution and extension (1,2).B) DifferentialMany patients show diffusely distributed LVH. However, almost one third of patients have only mild wall thickening localised to a single segment (interventricular septum, antero-lateral and posterior wall), or limited to the apex, most common among Japanese people. Increased LV wall thicknesses range widely from mild (13-15 mm) to massive (30 mm [normal, ≤11 mm]), and up to 60 mm.In trained athletes, modest segmental wall thickening (ie, 13-15 mm) raises the differential diagnosis between extreme physiologic LVH (ie, athlete’s heart) and mild morphologic expressions of HCM, without outflow obstruction.The differential diagnosis in this “gray-zone” of overlap (about 2% of elite male athletes) where differentiation of adaptative LVH versus HCM could be facilitated or resolved with some clinical and imaging criteria. Echocardiographic criteria: An end-diastolic diameter (EDD) >55 mm and a reduction of the LV wall thickening after three months of detraining (<13 mm) are suggestive of the athlete’s heart (3, 4). Recognition of certain features referring to LV dimensions, diastolic function and brain natriuretic peptide (BNP) is useful (5,6). In a pilot study by Pagourelias ED et al, left ventricular end-diastolic diameter<4,74 cm, mitral deceleration time>200 msec, isovolumic relaxation time>94 msec, tricuspid E/A<1,63, relative wall thickness >0,445 and a BNP value at rest >9,84 pg/ml suggest underlying cardiomyopathy (5).Magnetic resonance imaging (MRI) may be of diagnostic value when echocardiography is technically inadequate in identifying segmental LVH (7). A model incorporating the LV end diastolic volume (EDV) and end diastolic mass (EDM) ratio (EDV:EDM ratio) has been proposed as a useful tool to distinguish HCM from physiological hypertrophy in athletes (8). This ratio has been found to be lower in patients with HCM in comparison with healthy controls and athletes. Late gadolinium enhancement may be helpful in identifying areas of intramyocardial fibrosis (7). However, on the other hand, MRI of endurance athletes has been found to reveal abnormal findings in more than 5% of athletes (9). Thus, cardiac MRI cannot be recommended as a routine examination in athletes.Cardiopulmonary testing may contribute to the differential diagnosis between HCM and the athlete’s heart: athletes usually have a VO2 peak value >50 ml/kg/min, in comparison with HCM patients who present VO2 peak value in the range of normality (7).Genetic analyses are useful in distinguishing the benign consequences of systematic athletic training from pathological LVH with the potential for sudden cardiac death. With regard to pedigree assessment, it is mandatory for the proband to be informed of the familial nature and autosomal dominant transmission of HCM. Screening of first-degree relatives, including anamnestic and physical examinations, and 2-dimensional echocardiography and ECG should be encouraged, particularly if adverse HCM-related events have occurred in the family. If a proband is positive for one of the 10 most common HCM-causing mutant genes tested in the panel, the test result is definitive. On the other hand, negative tests in probands may be nondiagnostic because of false negative results. However, if the gene defect responsible for HCM in the family is known, family members can easily be tested definitively and inexpensively (7). Actually, such genetic testing has potential limitations and the debate regarding screening remains controversial. Genetic testing has been increasingly used in the diagnosis of HCM, resulting in a subset of patients with genotype positive-phenotype negative disease; these patients carry the mutation for HCM but lack pathological evidence of disease (10).
Correct risk stratification and relevant sport disqualification are based on the evidence that sudden death may be the first clinical manifestation of the disease, particularly in the young (<30 years). Some observations indicate that, in the presence of cardiovascular disease, physical activity may be a trigger and a precipitating factor for sudden death in athletes:
Usual practice in the US is usually limited to history and physical examination (12-17). In contrast, Italy has known for the last 25 years a systematic preparticipation screening program. This screening includes a 12-lead ECG which has allowed the identification of athletes previously undiagnosed with HCM. In Italy there is a law on health protection of competitive sports since 1982 that has led to the creation and the revision of cardiological guidelines (called COCIS) which have reached their fourth edition (1989-2009). Indeed, the ECG is abnormal in up to 95% of HCM patients (18-21). In particular, Italian investigators have reported a nearly 90% decline in the annual incidence of sudden cardiovascular death in competitive athletes in the Veneto region of northeastern Italy. This change in death rate occurred in parallel with progressive implementation of nationwide mass screening and the increasing identification of affected athletes who were then disqualified from competitive sports.Maron et al, however, in a recent comparison of US and Italian experiences, described a similar sudden death rate among young competitive athletes in recent years (15). As sudden death has a strong impact in sports life, the concept that multiple sources are additive and beneficial in identifying the maximum number of sudden death events should be stressed. In this regard, recently Maron et al proposed identification of cases of sudden deaths in college athletes using internet-based, public domain methodology (22).The usefulness of ECG remains crucial (Fig 1). The 12-lead ECG is abnormal in 75% to 95% of HCM patients and typically demonstrates a wide variety of patterns, including elevated QRS voltages, intra-atrial or left intraventricular conduction abnormalities, pathologic Q waves (depth>2 mm) and significant repolarisation abnormalities (ST depression, negative T waves). For example, deep T-wave inversion of>2 contiguous anterior or lateral leads (but not aVR and III) are of major concern for sports cardiologists, because they may represent the first and only sign of an inherited heart muscle disease (23). Providing medical clearance for an asymptomatic athlete without a family history of sudden death is especially challenging in the presence of these abnormal repolarisation patterns, highly suggestive of an inherited cardiomyopathy.However, some ECG patterns observed in athletes and raising a suspicion of HCM have a poor diagnostic value, in the absence of structural abnormalities. Transthoracic echocardiography significantly improves the diagnostic power of screening in the detection of both mild and serious cardiac conditions in the athletic populations (24).B) Abnormality detectedNevertheless, despite different pre-participation screening strategies, when a cardiovascular abnormality is identified in a competitive athlete, the following assessments are required:
It should be underscored that the risk associated with intense physical exertion for sports participants with cardiovascular abnormalities is difficult to quantify, given the unpredictable physiologic circumstances to which individual athletes may be exposed. Indeed, only some HCM-related sudden deaths are associated with intense physical activity and not all trained athletes with this disease die suddenly during their competitive phase.
The American College of Cardiology (ACC) 36th Bethesda Conference and European Society of Cardiology (ESC) offer expert recommendations and clear benchmarks for clinical practice (12,13).High-risk patients' recommendationsBecause of the potential and dramatic event of sudden death among young athletes, especially in case of strong intensity sports, the identification of higher risk athletes is crucial.
Obviously, this process may be very problematic, given the competing interests of the personal aspirations of the athletes versus the mandate of the physician to protect patients from circumstances which could provoke unacceptable risks. However, if individual risk stratification is difficult, on the other hand the identification of patients at low risk is easier.HCM patients at low risk of sudden death have the following characteristics:
These low risk patients are eligible, under periodic controls, for low intensity sports (eg, golf, sailing, riding and bowling).
The consensus criteria and recommendations for eligibility and disqualification of athletes with HCM should be useful to the practising community.Fig. 1: ECG at rest of a non agonistic athlete with a suspicion of Wolf-Parkinson-White. ECG suggests the diagnosis of HCM, later confirmed by imaging (by Chapter 19, Sport Cardiology Textbook, Springer 2012).
1. Hypertrophic cardiomyopathy: a systematic review. Maron BJ JAMA 2002; 287:1308-1320.2. ACCF/AHA Guidelines for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, Seidaman CE, Towbin JA, Udelson JE, Yancy CW. J Am Coll Cardiol 2011; 58:212-603. Distinguishing hypertrophic cardiomyopathy from athletes heart physiological remodelling: clinical significance, diagnostic strategies and implications for pre- participation screening. Maron BJ. Br J Sports Med 2009; 43:649-656.4. Assessment of left ventricular hypertrophy in a trained athlete: differential diagnosis of physiologic athlete’s heart from pathologic hypertrophy. Pelliccia A, Maron MS, Maron BJ. Prog Cardiovasc Dis 2012;54:387-96.5. Efficacy of various “classic” echocardiographic and laboratory indices in distinguishing the “gray zone” between athlete’s heart and hypertrophic cardiomyopathy: a pilot study. Pagourelias ED, Efthimiadis GH, Koudi E, Zoron P, Giannoglu G, Deligiannis A, Athyros VG, Karagiannis A, Geleris P. Echocardiography 2013; 30(2):131-9.6. Brian natriuretic peptide and the athlete’s heart: a pilot study. Pagourelias ED,Giannoglu G, Koudi E, Efthimiadis GK, Zoron P, Tziomalos K, Karagiannis A, Athyros VG, Geleris P, Mikhailidis DP. Int J Clin Pract 2010;64:511-7.7. Sports Cardiology, from diagnosis to clinical management. Fioranelli M, Frajese G. ISBN 9788847027749, DOI 10.1007/9788847027756. Springer 2012.8. Unravelling the gray zone: cardiac MRI volume to wall mass ratio to differentiate hypertrophic cardiomyopathy and the athlete’s heart. Luikx T, Cramer MJ, Buckens CF, Zaidi A, Rienks R, Mosterd A, Prakken NH, Dijkman B, Mali WP, Velthuis BK. Br J Sports Med 2013.9. Detection of cardiovascular disease in elite athletes using magnetic resonance imaging. Mangold S, Kramer U, Franzen E, Erz G, Bretscneider C, Seeger A, Claussen CD, Niess AM, Burgstahlen C. Rofo 2013;185(12):1167-74.10. The dilemma of genotype positive-phenotype negative hypertrophic cardiomyopathy. Sylvester J, Seidenburg P, Silvis M. Curr Sports Med Rep 2014;13:94-9.11. Hypertrophic cardiomyopathy and other causes of sudden cardiac death in young competitive athletes, with considerations for preparticipation screening and criteria for disqualification. Maron BJ. Cardiol Clin 2007; 25:399-41412. Eligibility recommendations for competitive athletes with car- diovascular abnormalities. Maron BJ, Zipes DP. J Am Coll Cardiol 2005; 45:1312-1375.13. 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. Pelliccia A, Zipes DP, Maron BJ. J Am Coll Cardiol 2008; 52:1990-6.14.Recommendations and considerations related to preparticipation screening for cardiovascular abnormalities in competitive athletes. 2007 Update: A scientific statement from the American Heart Association Council on Nutrition, Physical Activity, and Metabolism: Endorsed by the American College of Cardiology Foundation. Maron BJ, Thompson PD, Ackerman MJ, Balady G, Berger S, Cohen D, Dimeff R, Douglas PS, Glover DW, Hutter AM Jr, Krauss MD, Maron MS, Mitten MJ, Robers WO, Puffer JC. Circulation 2007; 115; 1643-1655.15.Comparison of U.S and Italian experiences with sudden cardiac deaths in young competitive athletes and implications for preparticipation screening strategies. Corrado D, Basso C, Thiene G. Am J Cardiol 2010;105:421-2.16. Incidence and causes of sudden death in U.S College athletes. Maron BJ, Haas TS, Murphy CJ, Ahluwalia A, Rutten-Ramos S. J Am Coll Cardiol 2014;63:1636-43.17. Comparison of U.S and Italian experiences with sudden cardiac deaths in young competitive athletes and implications for preparticipation screening strategies. Maron BJ, Haas TS, Doerer JJ, Thompson PD, Hdges JS. Am J Cardiol 2009;104 (2):276-80.18. Cardiovascular preparticipation screening of young competitive athletes for prevention of sudden death: proposal for a common European protocol Consensus Statement of the Study Group of Sport 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. Corrado D, Pelliccia A, Bjørnstad HH, Vanhees L, Biffi A, Boyesson M, Panhuyzen-Goed Koop N, Deligiannis A, Soeberg F, Dregmore D, Mellwig KP, Assanelli D, Delise P, van Buuren F, Anastasakis A, Heidbuchel H, Hoffman E, Fagard R, Priri SG, Basso C, Arbustini E, Blomstrom-Lundqvist C, Mckenna WJ, Thiene G. Eur Heart J 2005; 26:516-52419. Preparticipation cardiovascular evaluation of the competitive athlete: Perspectives from the 30-year Italian experience. Pelliccia A, Maron BJ. Am J Cardiol 1995, 75:827-82820. Italian cardiological guidelines for sports eligibility in athletes with heart disease: part 1. Biffi A, Delise P, Zeppilli P, Giada F, Pelliccia A, Penco M, Casasco M, Colonna P, D’Andrea L, Gazale G, Inama G, Spataro A, Villella A, Marino P, Pirelli S, Romano V, Cristiano A, Bettini R, Thiene G, Furlanello I, Corrado D. Italian Society of Sports Cardiology and Italian Sports Medicine Federation. J Cardiovasc Med (Hagerstown) 2013;14:477-99.21. Italian cardiological guidelines for sports eligibility in athletes with heart disease: part 2. Biffi A, Delise P, Zeppilli P, Giada F, Pelliccia A, Penco M, Casasco M, Colonna P, D’Andrea L, Gazale G, Inama G, Spataro A, Villella A, Marino P, Pirelli S, Romano V, Cristiano A, Bettini R, Thiene G, Furlanello I, Corrado D. 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Screening program in the athlete in the suspicion of HCMFioranelli Massimo, MD, FESC, Piro Maddalena, MD, PhDHeart Center, Casa di Cura Mater Dei, Rome, ItalyCorresponding Author:Prof. Massimo Fioranelli, MD, FESC, FSCAI, FCCP, FGISE, FANMCO.Associate Professor of Physiology Scientific Director Centro Studi Scienze della VitaGuglielmo Marconi UniversityVia Vittoria Colonna 11, 00193 RomaAuthors' disclosures: None declared.
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