Hypertrophic Cardiomyopathy and Other Causes of Sudden Cardiac Death in Young Competitive Athletes, with Considerations for Preparticipation Screening and Criteria for Disqualification

doi:10.1016/j.ccl.2007.07.006

Cardiology Clinics

Volume 25, Issue 3, August 2007, Pages 399-414

https://doi.org/10.1016/j.ccl.2007.07.006 Get rights and content

Cardiovascular disease is the most frequent cause of death in young athletes, and hypertrophic cardiomyopathy (HCM) is the single most common condition responsible for these tragedies. Detection of diseases such as HCM can be achieved in general athlete populations through preparticipation screening, and most effectively if testing with electrocardiography or echocardiography is incorporated into the process. Criteria for disqualification and eligibility, based on identified cardiovascular abnormalities, are available in consensus panel guidelines for both United States and European athletes. Removal from intense training and competition is recommended for athletes with HCM, some of whom may ultimately be judged to be at unacceptably high risk for sudden death and eligible for prophylactic defibrillator implantation.

Section snippets

Cardiovascular causes of sudden death in young athletes

A competitive athlete is defined as one who participates in an organized team or individual sport which requires regular competition against others as a central component, places a high premium on excellence and achievement, and requires vigorous and intense training in a systematic fashion [18]. This definition is arbitrary, and it should be underscored that many individuals participate in recreational sports in a truly competitive fashion.

Several autopsy-based studies have documented the

Commotio cordis

Blows to the chest, and specifically the precordium, can trigger ventricular fibrillation without structural injury to ribs, sternum, or heart itself (commotio cordis) [14], [15], [53]. Indeed, these events are more common causes of athletic field deaths than many of the aforementioned specific cardiovascular diseases. Commotio cordis is frequently caused by projectiles which are implements of the game, and strike the chest at a broad range of velocities. For example, hockey pucks or lacrosse

Prevalence and significance of the problem

Sudden unexpected death caused by cardiovascular disease during competitive sports is rare in high school students participating in organized interscholastic sports (ie, about 1 in 200,000 participants per year or 1 in 60,000 participants over a 3-year high school period) [58]. Somewhat lower estimates for the risk of sudden death have been reported for adult joggers or marathon road racing runners [57], [59], [60]. The automated external defibrillator has proven effective in reducing sudden

Demographics

Based primarily on data assembled from broad-based United States populations [2], [6], [7], [8], a profile of young competitive athletes who die suddenly has emerged. Such athletes participate in a large number and variety of sports, with the most common basketball and football (about 60%), probably reflecting the high participation level in these popular team sports as well as the physical intensity required. In Europe, soccer is most frequently associated with sudden death in athletes.

The

Mechanisms and resuscitation

In the vast majority of athletes with HCM and other cardiac diseases, cardiac arrest results from electrical instability with primary ventricular tachyarrhythmias (see Fig. 4). The major exception to this principle is Marfan syndrome, in which death is usually caused by aortic dissection and rupture. However, regardless of mechanism, only a minority of athletes with cardiovascular disease who collapse on the athletic field are successfully resuscitated. More widespread dissemination of

Screening and preparticipation detection of cardiovascular abnormalities

Detection of cardiovascular abnormalities with the potential for significant morbidity or sudden death is the important objective of the widespread practice of preparticipation screening of high school and college-aged athletes. There is a general consensus within a benevolent society that a responsibility exists on the part of physicians to initiate prudent efforts for the identification of life-threatening diseases in athletes, for the purpose of minimizing the cardiovascular risks associated

Criteria for sports eligibility and disqualification

When a cardiovascular abnormality is identified in a competitive athlete several considerations arise: (1) level of risk for sudden death if participation in organized sports continues; (2) likelihood that risk would be reduced if systematic training and competition were terminated; and (3) criteria to formulate appropriate eligibility or disqualification decisions. Unfortunately, on occasion the medical disqualification decision-making process can become polarized, given the personal

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Individuals with hypertrophic cardiomyopathy (HCM) have historically been advised to limit exercise and sports participation to mild-intensity activities due to concerns for sudden cardiac arrest (SCA). However, more contemporary data have shown SCA is rare in patients with HCM and emerging data is shifting towards support for the safety of exercise in this patient population. Recent guidelines endorse exercise in patients with HCM after a comprehensive evaluation and shared-decision making with an expert provider.
FHOD formin and SRF promote post-embryonic striated muscle growth through separate pathways in C. elegans
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Citation Excerpt :
Dilated cardiomyopathy (DCM) occurs in ~1 in 2500 individuals, while hypertrophic cardiomyopathy (HCM) occurs in ~1 in 500 individuals [1]. Significantly, in the United States, HCM is the leading cause of sudden cardiac-related death of young competitive athletes [2]. Many of the genetic causes of DCM and HCM have been linked to mutations in components of the sarcomere [1].
Previous work with cultured cells has shown transcription of muscle genes by serum response factor (SRF) can be stimulated by actin polymerization driven by proteins of the formin family. However, it is not clear if endogenous formins similarly promote SRF-dependent transcription during muscle development in vivo. We tested whether formin activity promotes SRF-dependent transcription in striated muscle in the simple animal model, Caenorhabditis elegans. Our lab has shown FHOD-1 is the only formin that directly promotes sarcomere formation in the worm's striated muscle. We show here FHOD-1 and SRF homolog UNC-120 both support muscle growth and also muscle myosin II heavy chain A expression. However, while a hypomorphic unc-120 allele blunts expression of a set of striated muscle genes, these genes are largely upregulated or unchanged by absence of FHOD-1. Instead, pharmacological inhibition of the proteasome restores myosin protein levels in worms lacking FHOD-1, suggesting elevated proteolysis accounts for their myosin deficit. Interestingly, proteasome inhibition does not restore normal muscle growth to fhod-1(Δ) mutants, suggesting formin contributes to muscle growth by some alternative mechanism. Overall, we find SRF does not depend on formin to promote muscle gene transcription in a simple in vivo system.
ECG-based cardiac screening programs: Legal, ethical, and logistical considerations
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Screening asymptomatic people with a resting electrocardiogram (ECG) has been theorized to detect latent cardiovascular disease. However, resting ECG screening is not recommended for numerous populations, such as asymptomatic middle-aged (sedentary) people, as it is not sufficiently sensitive to detect coronary artery disease. While the issues raised in this article are largely common to all screening programs, this review focuses on 2 distinct programs: (1) screening elite athletes for conditions associated with sudden cardiac death (SCD); and (2) screening people aged ≥65 years for atrial fibrillation (AF). These 2 settings have recently gained attention for their promise and concerns regarding prevention of SCD and stroke, respectively. If screening is to be done, it must be done well. Organizations conducting screening must consider a range of legal, ethical, and logistical responsibilities that arise from the beginning to the end of the process. This includes consideration of who to screen, timing of screening, whether screening is mandatory, consent issues, and auditing systems to ensure quality control. Good infrastructure for interpretation of ECG results according to expert guidelines and follow-up testing for abnormal screening results, including a pathway to treatment, are essential. Finally, there may be significant implications for those diagnosed with cardiac disease, including insurance, employment, the ability to play sport, and mental health issues. There are several legal risks, and the best protective measures are good communication systems, thorough clinical record-keeping, careful handling of eligibility questions for those diagnosed, and reference to expert guidelines as the standard of care.
Exercise Training for Patients With Hypertrophic Cardiomyopathy: JACC Review Topic of the Week
2018, Journal of the American College of Cardiology
Current guidelines recommend that patients with hypertrophic cardiomyopathy (HCM) not partake in high-intensity exercise due to the increased risk of sudden cardiac death. But individuals with genetic cardiomyopathies are not immune from cardiometabolic diseases, and inactivity is common in patients with HCM, likely due to fear of exercise-induced adverse events. The RESET-HCM trial (Study of Exercise Training in Hypertrophic Cardiomyopathy) illustrated that although moderate-intensity exercise may be safe in this population, the increase in cardiorespiratory fitness achieved with this training paradigm is modest. High-intensity exercise is an efficacious stimulus for increasing cardiorespiratory fitness in chronic disease populations. Such increases in fitness are associated with substantial reductions in cardiovascular mortality and may outweigh the theoretical risks associated with exercise in patients with HCM. The goal of this review is to examine the evidence supporting the safety and efficacy of different intensities of exercise training in HCM, and consider novel strategies to improve fitness.
The Acute Risks of Exercise in Apparently Healthy Adults and Relevance for Prevention of Cardiovascular Events
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Increased physical activity (PA) is associated with improved quality of life and reductions in cardiovascular (CV) morbidity and all-cause mortality in the general population in a dose-response manner. However, PA acutely increases the risk of adverse CV event or sudden cardiac death (SCD) above levels expected at rest. We review the likelihood of adverse CV events related to exercise in apparently healthy adults and strategies for prevention, and contextualize our understanding of the long-term risk reduction conferred from PA.
A systematic review of the literature was performed using electronic databases; additional hand-picked relevant articles from reference lists and additional sources were included after the search.
The incidence of adverse CV events in adults is extremely low during and immediately after PA of varying types and intensities and is significantly lower in those with long-standing PA experience. The risk of SCD and nonfatal events during and immediately after PA remains extremely low (well below 0.01 per 10,000 participant hours); increasing age and PA intensity are associated with greater risk. In most cases of exercise-related SCD, occult CV disease is present and SCD is typically the first clinical event.
Exercise acutely increases the risk of adverse CV events, with greater risk associated with vigorous intensity. The risks of an adverse CV event during and immediately after exercise are outweighed by the health benefits of vigorous exercise performed regularly. A key challenge remains the identification of occult structural heart disease and inheritable conditions that increase the chances of lethal arrhythmias during exercise.
L’augmentation de l’activité physique (AP) est associée à l’amélioration de la qualité de vie et à la diminution de la morbidité cardiovasculaire (CV) et de la mortalité toutes causes confondues dans la population générale selon une relation dose-réponse. Cependant, l’AP augmente considérablement le risque d’événements CV indésirables ou la mort cardiaque subite (MCS) au-dessus des niveaux attendus au repos. Nous passons en revue la probabilité d’événements CV indésirables liés à l’exercice chez les adultes apparemment en santé et les stratégies de prévention, et contextualisons notre compréhension de la diminution des risques à long terme que confère l’AP.
Nous avons réalisé une revue systématique de la littérature à partir des banques de données électroniques. Nous avons inclus des articles pertinents additionnels triés sur le volet provenant de listes de référence et de sources complémentaires après la recherche.
L’incidence des événements CV indésirables chez les adultes est extrêmement faible durant et immédiatement après l’AP de types et d’intensités variables, et est significativement plus faible chez ceux qui ont une expérience de longue date de l’AP. Le risque de MCS et d’événements non fatals durant et immédiatement après l’AP demeure extrêmement faible (bien au-dessous de 0,01 par 10 000 heures de participation); l’avancement en âge et l’intensité de l’AP sont associés à un risque plus élevé. Dans la plupart des cas de MCS liée à l’exercice, la maladie CV occulte est présente et la MCS est généralement le premier événement clinique.
L’exercice augmente considérablement le risque d’événements CV indésirables, dont un risque plus élevé associé à l’exercice d’intensité vigoureuse. Les avantages de la pratique régulière de l’exercice vigoureux sur la santé sont supérieurs aux risques de subir un événement CV indésirable durant et immédiatement après l’exercice. Le défi primordial demeure la détection de la cardiopathie structurelle occulte et les affections héréditaires qui augmentent les risques d’arythmies létales au cours de l’exercice.
Benign and pathological electrocardiographic changes in athletes
2015, Revista Portuguesa de Cardiologia
A morte súbita cardíaca é a principal causa de morte em atletas durante a prática desportiva. É um evento trágico, com grande impacto nos média, gerando discussão dentro da comunidade no intuito de perceber se tudo foi feito para o evitar. A prática regular de exercício físico causa uma remodelagem cardíaca, tanto a nível mecânico como elétrico, conhecida como «coração de atleta», que se repercute num eletrocardiograma considerado «anormal» quando comparado com o da população geral. Algumas destas alterações do eletrocardiograma são consideradas normais/fisiológicas em atletas, enquanto outras traduzem, efetivamente, doença cardíaca de base, com potencial de causar morte súbita cardíaca. Assim, urge definir quais os padrões eletrocardiográficos que «permitem» ou, por outro lado, «proíbem» a prática desportiva, diferenciando‐os em função do género, etnia e idade. Esta revisão pretende reunir a informação mais atual sobre as alterações eletrocardiográficas consideradas benignas ou patológicas encontradas tipicamente em atletas e analisar, de forma crítica, os critérios mais recentes para a classificação do eletrocardiograma nesta população (os Critérios de Seattle), comparando‐os com as guidelines anteriores e com os estudos mais recentes sobre o tema. É também objetivo desta revisão dar a conhecer a problemática da inclusão do eletrocardiograma no programa de rastreio pré‐desportivo, as perspetivas americana e europeia, e os dados mais recentes sobre a sensibilidade, especificidade e custo‐efetividade do uso do eletrocardiograma em atletas.
Sudden cardiac death is the leading cause of death in athletes during sport. It is a tragic event that generates significant media attention and discussion throughout society as to whether everything possible had been done to prevent it. Regular physical exercise causes cardiac remodeling at both the mechanical and electrical level, known as athlete's heart, resulting in an electrocardiogram (ECG) considered abnormal compared with the ECGs of the general population. Some of these electrocardiographic changes are considered normal or physiological in athletes, while others suggest underlying cardiac disease with the potential to cause sudden cardiac death. There is thus an urgent need to define the electrocardiographic patterns that allow or prohibit participation in sports, and to differentiate them in terms of gender, ethnicity and age. The purpose of this review is to present the latest data on the electrocardiographic changes considered benign or pathological that are typically found in athletes and to critically analyze the most recent criteria for classifying ECGs in this population (the Seattle criteria), comparing them with previous guidelines and with the latest studies on the subject. This article also examines the question of including ECGs in preparticipation screening programs, the US and European approaches to the subject, and the most up‐to‐date data on the sensitivity, specificity and cost‐effectiveness of the ECG in athletes.

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Hypertrophic Cardiomyopathy and Other Causes of Sudden Cardiac Death in Young Competitive Athletes, with Considerations for Preparticipation Screening and Criteria for Disqualification

Section snippets

Cardiovascular causes of sudden death in young athletes

Commotio cordis

Prevalence and significance of the problem

Demographics

Mechanisms and resuscitation

Screening and preparticipation detection of cardiovascular abnormalities

Criteria for sports eligibility and disqualification

Sudden death in young athletes: lessons from the hank gathers affair

N Engl J Med

Sudden death in young competitive athletes: clinical, demographic and pathological profiles

JAMA

Competitive athletes with cardiovascular disease—the case of Nicholas Knapp

N Engl J Med

Cardiovascular risks to young persons on the athletic field

Ann Intern Med

Nontraumatic sports death in high school and college athletes

Med Sci Sports Exerc

Sudden death in young athletes

N Engl J Med

Relationship of race to sudden cardiac death in competitive athletes with hypertrophic cardiomyopathy

J Am Coll Cardiol

Profile and frequency of sudden deaths in 1,463 young competitive athletes: from a 25-year US national registry, 1980–2005

Circulation

Contemporary definitions and classification of the cardiomyopathies. An American Heart Association Scientific Statement from the Council and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention

Circulation

Causes of sudden death in the competitive athlete

J Am Coll Cardiol

Trends in sudden cardiovascular death in young competitive athletes after implementation of a preparticipation screening program

JAMA

The heart of trained athletes: cardiac remodeling and the risks of sports including sudden death

Circulation

Sudden death in young athletes

Circulation

Blunt impact to the chest leading to sudden death from cardiac arrest during sports activities

N Engl J Med

Clinical profile and spectrum of commotio cordis

JAMA

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

Circulation

Eur Heart J

36th Bethesda Conference: eligibility recommendations for competitive athletes with cardiovascular abnormalities

J Am Coll Cardiol

A European Society of Cardiology consensus document: recommendations for competitive sports participation in athletes with cardiovascular disease

Eur Heart J

Structural features of the athlete heart as defined by echocardiography

J Am Coll Cardiol

The upper limit of physiologic cardiac hypertrophy in highly trained elite athletes

N Engl J Med

Athlete's heart in women: echocardiographic characterization of highly trained elite female athletes

JAMA

Hypertrophic cardiomyopathy: a systematic review

JAMA

J Am Coll Cardiol

Assessment of the prevalence of hypertrophic cardiomyopathy in a general population of young adults: echocardiographic analysis of 4111 subjects in the CARDIA Study

Circulation

The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms

Cell

Glycogen storage diseases presenting as hypertrophic cardiomyopathy

N Engl J Med

The management of hypertrophic cardiomyopathy

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Am J Cardiol

Hypertrophic cardiomyopathy is predominantly a disease of left ventricular outflow tract obstruction

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Phenotypic spectrum and patterns of left ventricular hypertrophy in hypertrophic cardiomyopathy: morphologic observations and significance as assessed by two-dimensional echocardiography in 600 patients

J Am Coll Cardiol

Utility of cardiac magnetic resonance imaging in the diagnosis of hypertrophic cardiomyopathy

Circulation

Extreme left ventricular hypertrophy

Circulation

Magnitude of left ventricular hypertrophy predicts the risk of sudden death in hypertrophic cardiomyopathy

N Engl J Med