Sudden Death In Young Athletes Research Articles

Sudden cardiac death in young athletes: exome sequencing results

BACKGROUND: Ranking risks and prevention of sudden cardiac death in professional young athletes is a crucial unresolved problem in sports medicine. Intense physical exertion can lead to adaptive changes in the cardiovascular system, which can mask inherited diseases with predominant myocardial involvement, such as hypertrophic cardiomyopathy. Undiagnosed cases of such diseases can be a risk factor for fatal outcomes associated with training and competitive activities, making this problem extremely relevant.
 AIM: To conduct a diagnostic search for possible molecular causes of cardiovascular diseases associated with a high risk of sudden death in young athletes.
 MATERIALS AND METHODS: Whole-exome sequencing of DNA extracted from two groups of biomaterials was performed: nine autopsy samples of heart tissues from young athletes who died during intense physical exertion and three venous blood samples from active athletes of the Russian national team. Obtained data were subjected to bioinformatic analysis and clinical interpretation.
 RESULTS: In total, 12 DNA samples were analyzed using a panel of 277 genes associated with the development of cardiovascular diseases with a high risk of sudden death. In 4 of 12 samples (33.3%), variants possibly related to the phenotype were found upon clinical interpretation of the sequencing results. A pathogenic variant was found in the MYBPC3 gene, leading to the development of hypertrophic cardiomyopathy (OMIM: 115197), and a potential pathogenic variant was found in the TRPM4 gene, associated with progressive familial heart block type IB (OMIM: 618531). Moreover, two variants with uncertain clinical significance were found in CAV3 and SCN1B.
 CONCLUSION: Currently, data from high-throughput sequencing are collected to identify the molecular basis of cardiovascular diseases with a high risk of sudden cardiac death. Identifying young athletes who are carriers of pathogenic and possibly pathogenic gene variants is beneficial for preventing fatal outcomes and personalizing medical support for professional athletes.

Commotio cordis – a review of a rare cause of sudden death in young athletes

Commotio cordis, from Latin “agitation of the heart” is a potentially fatal sudden disruption and alteration of heart electric activity. It is usually caused by relatively mild blunt non-penetrating trauma to the specific point on anterior part of the chest wall during beginning of the heart muscle repolarization phase. It leads to ventricular fibrillation presenting as a collapse few seconds after the blow. It can be lethal without taking proper steps of management in a short ammount of time.

Commotio cordis as cause of sudden cardiac death associated with chest trauma

The review describes a rarely occurring state of commotio cordis (CC) — ventricular fibrillation (VF), associated with unintentional blunt impact on the anterior thoracic wall in the absence of structural damage to the heart. The development of VF is based on the coincidence of the time of a closed breast trauma with a vulnerable period during early repolarization (the so-called "vulnerability window"). More often, death occurs instantly or in the coming minutes of a post-traumatic period. CC is more common in male adolescents and seems to be the second leading cause of sudden death in young athletes. It is possible to save the victim with cardiorespiratory resuscitation or defibrillation only in 25–28 % of cases. High mortality is explained by the fact that victims often do not have time to receive immediate medical care. It is necessary to inform the population, medical community and athletes about importance to avoid hitting the heart. As a preventive measure in some sports, chest protectors are used. Information about the potential danger of blows to the heart area should be provided to the attention of athletes involved, since even an unintentional mild blow can provoke a life-threatening arrhythmia. Having access to defibrillators at sporting events, teaching people to use them and to realize the cardio-pulmonary resuscitation measures can improve the survival of the CC victims.

Chronicle of a death foretold. It is time for echocardiographic screening in young athletes

BackgroundThe novel “Chronicle of a death foretold” by Gabriel Garcia Marquez is a story of a sudden death which could have been prevented. In 1976, within the University of Maryland basketball program and only 8 weeks apart, two athletes died suddenly during physical exertion. They were affected by hypertrophic cardiomyopathy and Marfan syndrome and in both cases an echocardiogram would have prevented the tragic epilogue. This coincidence drew everyone's attention and experts' interest on sudden death in sports. Methods and resultsEven in recent Italian history, unexpected deaths continue to affect athletes but surprisingly any real knowledge regarding the numbers and the impact of those tragedies must take medical literature and non-medical press into consideration. Herein we report the clinical case of a 13-year-old patient with a bicuspid aortic valve, whose mother was alarmed by the news of a young boy who died because of an anomalous origin of coronary artery (AOCA) which had not been diagnosed at transthoracic echocardiography (TTE). Her obstinacy induced the physicians to repeat TTE and led to the same diagnosis in her son: actually, his right coronary artery originated from the opposite sinus of Valsalva. The suspicion was confirmed by coronary CT scan and, thanks to appropriate therapy, the boy now fares well. ConclusionsAOCA is the second most common cause of sudden death in young athletes. Although AOCA is often undetectable at ECG, TTE increases sensitivity of preparticipation screening. It could therefore allow us to avoid such coincidences and prevent sudden juvenile death.

Clariant contributes to China's carbon neutrality goal with innovative MegaMax catalyst for CO2-based methanol synthesis

The novel “Chronicle of a death foretold” by Gabriel Garcia Marquez is a story of a sudden death which could have been prevented. In 1976, within the University of Maryland basketball program and only 8 weeks apart, two athletes died suddenly during physical exertion. They were affected by hypertrophic cardiomyopathy and Marfan syndrome and in both cases an echocardiogram would have prevented the tragic epilogue. This coincidence drew everyone's attention and experts' interest on sudden death in sports.Even in recent Italian history, unexpected deaths continue to affect athletes but surprisingly any real knowledge regarding the numbers and the impact of those tragedies must take medical literature and non-medical press into consideration. Herein we report the clinical case of a 13-year-old patient with a bicuspid aortic valve, whose mother was alarmed by the news of a young boy who died because of an anomalous origin of coronary artery (AOCA) which had not been diagnosed at transthoracic echocardiography (TTE). Her obstinacy induced the physicians to repeat TTE and led to the same diagnosis in her son: actually, his right coronary artery originated from the opposite sinus of Valsalva. The suspicion was confirmed by coronary CT scan and, thanks to appropriate therapy, the boy now fares well.AOCA is the second most common cause of sudden death in young athletes. Although AOCA is often undetectable at ECG, TTE increases sensitivity of preparticipation screening. It could therefore allow us to avoid such coincidences and prevent sudden juvenile death.

Roundtable on Preseason Heat Safety in Secondary School Athletics: Prehospital Care of Patients With Exertional Heat Stroke.

First, we will update recommendations for the prehospital management and care of patients with exertional heat stroke (EHS) in the secondary school setting. Second, we provide action items to aid clinicians in developing best-practice documents and policies for EHS. Third, we supply practical strategies clinicians can use to implement best practice for EHS in the secondary school setting. An interdisciplinary working group of scientists, physicians, and athletic trainers evaluated the current literature regarding the prehospital care of EHS patients in secondary schools and developed this narrative review. When published research was nonexistent, expert opinion and experience guided the development of recommendations for implementing life-saving strategies. The group evaluated and further refined the action-oriented recommendations using the Delphi method. Exertional heat stroke continues to be a leading cause of sudden death in young athletes and the physically active. This may be partly due to the numerous barriers and misconceptions about the best practice for diagnosing and treating patients with EHS. Exertional heat stroke is survivable if it is recognized early and appropriate measures are taken before patients are transported to hospitals for advanced medical care. Specifically, best practice for EHS evaluation and treatment includes early recognition of athletes with potential EHS, a rectal temperature measurement to confirm EHS, and cold-water immersion before transport to a hospital. With planning, communication, and persistence, clinicians can adopt these best-practice recommendations to aid in the recognition and treatment of patients with EHS in the secondary school setting.

Alterações anatômicas coronarianas mais frequentes

Background Coronary artery anomalies represent an array of malformations of the vessels responsible for myocardial perfusion, with a prevalence of 1% in the general population. Mostly asymptomatic, they are diagnosed during routine tests. When symptomatic, they are the second major cause of sudden death in young athletes. Our study aimed to assess the most commonly found coronary vessel anatomic anomalies during cardiac catheterization procedures. Methods An analytic cross-sectional study was performed assessing the medical charts of patients submitted to [...]

"Coronary Confusion" Congenital Anomaly of the Left Main Coronary Artery Presenting as a Myocardial Infarction in a Young Female.

Coronary artery anomalies are rare congenital disorders occurring in 0.3–5.6 % of the population. However, it carries a potential risk of sudden death in young athletes due to the development of premature coronary artery disease. The diagnosis of coronary artery anomalies is usually made incidentally; commonly found while investigating other cardiac conditions. A coronary CT angiography and traditional interventional angiography are the gold standards for diagnosing congenital coronary artery anomalies. Here, we present a case of a 27 year-old female with a history of hypertension and membranous glomerulonephritis with proteinuria presenting with an inferior ST elevation myocardial infarction. Cardiac catheterization revealed an anomalous origin of the left anterior descending artery from the right coronary cusp and absence of the left circumflex artery with a super-dominant right coronary artery. The patient had an occlusion of the right posterior descending artery and the right posterolateral segment. We discuss the clinical diagnosis and intervention of the case along with review of the literature.

473Aetiologies of sudden death in young athletes compared with non-athletes. data from a large pathology registry

473Aetiologies of sudden death in young athletes compared with non-athletes. data from a large pathology registry

Where is Occupational Medicine Going?

Occupational medicine, Occupational and Environmental medicine, Industrial Hygiene, Occupational and Sports medicine, Protection at Work, whatever it is called in different countries, this is an extraordinary important branch of preventive medicine. In some European countries, occupational medicine as a scientific study lost its recognition, starting from health centres to medical schools. The question to be asked is whether such an automatic negation of a new danger is positive, not only for the reason of the lost dignity, but also because of endangering community and environment. For a long while now we witness the results of low rating and significance of the occupational medicine. The traffic accidents and misuse of firearms have increased, as well as sudden deaths of young athletes at sports events, the number of work injuries and professional illnesses. Further question is the growing privatization and tendency of the total privatization of primary and specific healthcare, i.e. the whole health system except partially hospitals. The occupational medicine specialist at the open market losses the much needed neutrality and in order to keep the clients and survive, panders to contracted firms or to the workers. Furthermore, psychologists and psychiatrists that make a compulsory part of the occupational medicine teams, do inadequate work capacity assessments by overlooking specificity of the workplace. It is necessary to return dignity and independency to occupational medicine, so that it can achieve its primary task – assessment of work capacity, without any type of pressure. Trends of the modern occupational health services, visiting of work places, questioning and screenings have to be conducted but at the strong stationary Occupational medicine centres, preferably at scientific educational institutions.

Anomalous Origin of Coronary Artery from the Contralateral Aortic Sinus - Case Report

Congenital coronary artery anomalies are rare heart defect that has been associated with myocardial ischemia and sudden death. Only 1-2% of population having variation in the origin, course or distribution of the epicardial coronary arteries. Anomalous origin of coronary arteries may be present as isolated defect or as a part of complex congenital heart disease. The clinical presentation, diagnostic work up, prognosis and treatment of these anomalies are highly variable. Most of the patients are asymptomatic but manifestation of these patients are chest pain, dyspnoea, palpitation, dizziness, ventricular fibrillation, syncope and sudden death. It is the second most common cause of sudden death in young athletes. Selective coronary angiography is the gold standard for identification of such type of anomaly. Patients of anomalous origin of coronary artery from the opposite sinus may require medical treatment, coronary angioplasty with stenting or surgical repair.University Heart Journal Vol. 12, No. 2, July 2016; 98-101

UNDER-RECOGNIZED CAUSES OF SUDDEN DEATH IN YOUNG ATHLETES: MYOCARDITIS AND MITRAL VALVE PROLAPSE

Sudden deaths in young athletes are rare and frequently related to highly visible cardiovascular conditions including HCM and anomalous coronaries. However, 2 less intuitive common causes of deaths in athletes include myocarditis and mitral valve prolapse (MVP). The Sudden Death in Athletes

Cardiac screening to prevent sudden death in young athletes

Sudden cardiac death (SCD) is a sudden and unexpected death caused by loss of heart of function. SCD may occur in any population, but when it occurs on the playing field in a young individual, communities worldwide are affected. Although these events are rare, media coverage of sudden cardiac arrests in young athletes have created the impression that these events are far more common than they appear. With a heightened awareness of SCD in young athletes, screening methods have been developed to try and prevent these events from occurring. The American Heart Associations (AHA) currently employs history and physical examination alone during the preparticipation physical exam (PPE), which clears a young athlete for participation in sports. There has been recent discussion on whether to include screening electrocardiogram (ECG) in the PPE especially after one study in Italy by Corrado et al. found that using routine ECG reduced the annual incidence of SCD by 90%. In this article we will discuss how effective the current screening recommendations are, whether routine ECG use should be included in the PPE and if it is cost effective, and review other screening modalities that may be useful in the detection of young athletes at risk for SCD.

Allosteric Transmission along a Loosely Structured Backbone Allows a Cardiac Troponin C Mutant to Function with Only One Ca2+ Ion

Hypertrophic cardiomyopathy (HCM) is one of the most common cardiomyopathies and a major cause of sudden death in young athletes. The Ca2+ sensor of the sarcomere, cardiac troponin C (cTnC), plays an important role in regulating muscle contraction. Although several cardiomyopathy-causing mutations have been identified in cTnC, the limited information about their structural defects has been mapped to the HCM phenotype. Here, we used high-resolution electron-spray ionization mass spectrometry (ESI-MS), Carr-Purcell-Meiboom-Gill relaxation dispersion (CPMG-RD), and affinity measurements of cTnC for the thin filament in reconstituted papillary muscles to provide evidence of an allosteric mechanism in mutant cTnC that may play a role to the HCM phenotype. We showed that the D145E mutation leads to altered dynamics on a μs-ms time scale and deactivates both of the divalent cation-binding sites of the cTnC C-domain. CPMG-RD captured a low populated protein-folding conformation triggered by the Glu-145 replacement of Asp. Paradoxically, although D145E C-domain was unable to bind Ca2+, these changes along its backbone allowed it to attach more firmly to thin filaments than the wild-type isoform, providing evidence for an allosteric response of the Ca2+-binding site II in the N-domain. Our findings explain how the effects of an HCM mutation in the C-domain reflect up into the N-domain to cause an increase of Ca2+ affinity in site II, thus opening up new insights into the HCM phenotype.

Comparison of the Frequency of Sudden Cardiovascular Deaths in Young Competitive Athletes Versus Nonathletes: Should We Really Screen Only Athletes?

The issue of sudden death in young athletes and consideration for the most practical and optimal strategy to identify those genetic and/or congenital heart diseases responsible for these tragic events continues to be debated. However, proponents of broad-based and mandatory national preparticipation screening, including with 12-lead electrocardiograms have confined the focus to a relatively small segment of the youthful population who choose to engage in competitive athletic programs at the high school, college, and elite-professional level. Therefore, lost in this discussion of preparticipation screening of athletes is that the larger population of young people not involved in competitive sports (and, therefore, a priori are excluded from systematic screening) who nevertheless may die suddenly of the same cardiovascular diseases as athletes. To substantiate this hypothesis, we accessed the forensic Hennepin County, Minnesota registry in which cardiovascular sudden deaths were 8-fold more common in nonathletes (n= 24) than athletes (n= 3) and threefold more frequent in terms of incidence. The most common diseases responsible for sudden death were hypertrophic cardiomyopathy (n= 6) and arrhythmogenic right ventricular cardiomyopathy (n= 4). These data raise ethical considerations inherent in limiting systematic screening for unsuspected genetic and/or congenital heart disease to competitive athletes.

Sports Eligibility After Risk Assessment and Treatment in Children with Asymptomatic Ventricular Pre-excitation.

Many studies concern the management of young patients with symptomatic Wolff-Parkinson-White (WPW) syndrome, but little information exists on the significance and prognosis of ventricular pre-excitation (VPE) in asymptomatic children. The aim of the study was to evaluate the risk of sudden death in young athletes with asymptomatic VPE by transesophageal electrophysiological study (TEEPS) and their sports eligibility after the risk assessment and/or ablative treatment. Ninety-one asymptomatic children and adolescents underwent TEEPS both at rest and during adrenergic stress (exercise testing or isoproterenol infusion). After electrophysiological testing, patients were assessed in the 36months of follow-up. Thirty-three patients (36.3%) had a benign form of VPE and were allowed to participate in competitions. Ten patients (11%) were at borderline risk; thus, sport eligibility was evaluated individually. Forty-eight patients (52.7%) showed inducible sustained atrioventricular reentrant tachycardia and/or atrial fibrillation (AF), 11 of whom (12.1% of total population) had a potential risk of sudden cardiac death due to AF inducibility during physical stress. Forty-five young athletes underwent transcatheter ablation (TCA). TCA was interrupted in 12 patients (26.7%) because of the high procedural risk linked to septal accessory pathway (AP) location. There were no TCA-related complications, and all patients remained asymptomatic during follow-up. Most of the young athletes with asymptomatic VPE may be allowed to participate in competitive sports after an adequate risk assessment and/or ablative treatment. However, in our opinion, special care should be taken to avoid procedural complications, which are unacceptable in asymptomatic patients.

Congenital long QT syndrome in children

Long QT syndrome (LQTS) is a cardiac repolarization disorder characterized by prolonged QT interval on the electrocardiogram (ECG) and increased propensity to ventricular tachyarrhythmias and cardiac events. LQTS might be acquired or congenital, which presents a group of channelopathies that occur due to mutation in one of 15 so far identified genes. The most frequent types of congenital LTQS are LQT1, LQT2 and LQT3. Prolonged or delayed repolarization leads to the increase of action potential duration which predisposes early afterdepolarization, as well as the amplification of transmural dispersion of repolarization, both contributing to the development of Torsades de Pointes ventricular tachycardia. Clinical manifestations of LQTS are palpitations, syncope, aborted cardiac arrest or sudden cardiac death, but it can also be asymptomatic. Trigger factors for symptoms are specific for certain genotype. LQTS examination includes thorough clinical and family history focused on distinctive data (repeated syncopes, cases of sudden cardiac death in the family, hereditary arrhythmias), resting ECG, exercise stress testing and genetic analysis, with additional methods (serial ECG records, 24h ECG Holter, epinephrine test). Clinical LQTS diagnosis is based on Schwartz's scoring system, while the criteria for final diagnosis of LQTS depend on Schwartz's score, QT interval duration, presence of pathogenic mutation and clinical symptoms. Treatment approach begins with lifestyle modifications and β-blockers therapy, while other options include implantable cardioverter- defibrillator, permanent pacemaker or surgical sympathectomy. Sudden cardiac death is the reason of 90% of sudden deaths in young athletes, while LQTS is one of its causes. Recommendations for physical activities in children with congenital LQTS arise from the ones for adults and they presume very strict limitations. Further researches are expected to advance the understanding of genotype-phenotype correlation of congenital LQTS and enable eventual genetically-guided personalized treatment, novel insight into rare LQTS types, as well as more precise recommendations for physical activity of LQTS children.

先天性冠動脈異常の外科治療

冠動脈異常の発生率は1.3％程度と，まれではない．多くは偶然発見され自覚症状を伴わない場合も多い．しかし，なかには心筋梗塞，不整脈，突然死などの重篤な合併症を引き起こす場合がある．左冠動脈が右バルサルバ洞から起始する異常，なかでも大血管間を走行するものは若年運動選手での突然死の原因の一つとして知られており，自覚症状がなくても手術を行うべきである．負荷心電図で陰性のものも多く，疑った場合には必ず心エコー，造影CTなどの冠動脈形態の検査を行うことが重要である．左冠動脈肺動脈起始では生後早期より重症の心筋虚血，左室不全，僧帽弁閉鎖不全などを生じることが多く，しばしば心筋症や先天性の僧帽弁疾患と間違われる．乳児期早期のtwo-artery coronary systemの確立が必要である．冠動脈瘻は心筋虚血や短絡による心不全が問題となり，基本的には自覚症状で手術適応が決まる．症例によってカテーテル閉鎖も可能であり，あるいは冠動脈バイパス術が必要な場合もあるので，術前の形態診断が重要である．狭心痛，心筋虚血，不整脈，心不全などの症状の患者を診る際には冠動脈異常を鑑別診断に加えることが重要である．

Abstract 15941: The Effects of Training and Detraining on T Wave Inversion in Athletes

Introduction: T wave inversion (TWI) is the electrical hallmark of primary cardiomyopathies which are substrates for sudden death in young athletes. Such repolarization anomalies can feature on the ECG of an apparently healthy athlete and pose major diagnostic dilemmas in sports cardiology. Athletes are reluctant to detrain during the season. Hypothesis: This study hypothesized that detraining would affect TWI in athletes. Methods: Between 2013-2014, 36 professional footballers demonstrated TWI at mid-season ECG screenings (trained period). They were followed up during the "off-season" after a period of detraining (6-8 weeks). TWI was defined as –0.1 mV or greater 2 or more contiguous leads: anterior leads-V2-V3/4; inferior-II,III,aVF; or lateral-beyond V4 +/-aVL. Comparisons were drawn by 2 independent cardiologists, between trained and detrained ECGs. All players were also investigated for an underlying cardiomyopathy. Results: *Athletes were male, aged 24.5+/-2.7 years. *27 (75%) were Afro-Caribbean and 25% Caucasian (p=0.0141). *TWI was most common in the anterior leads (n=20, 55%), followed by inferior (n=10, 28%) and lateral (n=6, 17%) as in the bar chart. *No Caucasian player had TWI laterally. *After detraining, 16 players demonstrated resolution of anterior TWI (80%, p=0.0293), 8 in inferior leads (80%, p=0.2353) and 4 in the lateral leads (67%, p=0.638) (Figures 1a & b). *All players with abnormal TWI according to consensus guidelines were evaluated with no cardiomyopathy identified. Conclusions: In athletes who detrained during the 'off-season', we observed resolution of TWI in the majority of athletes (both Afro-Caribbean and Caucasian) after a relatively brief period of detraining which may be a physiological phenomenon. This was statistically significant in the anterior leads. However, TWI in the inferior and/or lateral leads should always raise the suspicion of an underlying cardiomyopathy, especially if persistent after detraining.

Invited Commentary

Anomalous origin of a coronary artery from the contralateral sinus of Valsalva is associated with sudden death in young athletes. Mechanisms of exercise induced ischemia include; an abnormal slitlike coronary ostial origin and compression of the intramural portion of the coronary artery. Surgical unroofing of the intramural portion of the anomalous coronary removes the likely anatomic causes of ischemia. Although low risk in comparison to other commonly performed congenital, heart surgery is still a major surgical procedure with a definable morbidity and mortality. Surgery is indicated for patients with an anomalous coronary and evidence of ischemia, but the management of the asymptomatic patient remains controversial. Compounding this problem, in recent years an increasing number of asymptomatic patients are being identified. Risk stratification and management of the asymptomatic individual is challenging. Many patients are submitted for surgery despite the fact that the risks of surgical intervention outweigh the benefits. Others are given arbitrary activity restrictions that can affect their social development and quality of life while not substantially lowering their risk of sudden death. In this study, Harris and colleagues [1Harris M.A. Whitehead K.K. Shin D.C. Keller M.S. Weinberg P.M. Fogel M.A. Identifying abnormal ostial morphology in anomalous aortic origin of a coronary artery.Ann Thorac Surg. 2015; 100: 174-180Abstract Full Text Full Text PDF PubMed Scopus (25) Google Scholar] from the Children’s Hospital of Philadelphia used virtual angioscopy, reconstructed images from three-dimensional cardiac magnetic resonance imaging studies, to characterize the origins of these abnormal coronary arteries. They identified elliptical as opposed to circular coronary origins in all patients with anomalous origin of the coronary artery. Although it is not surprising that a coronary artery with acute angulation at the origin would have an elliptical shape, studies such as this are important in attempting to quantify the abnormal origin. Ultimately, improved noninvasive imaging of this kind will result in better characterization of the anatomy of anomalous coronary artery origin, with the goal of identifying the asymptomatic patient who is at increased risk of sudden death and therefore a candidate for prophylactic surgical intervention. Identifying Abnormal Ostial Morphology in Anomalous Aortic Origin of a Coronary ArteryThe Annals of Thoracic SurgeryVol. 100Issue 1PreviewAnomalous origin of a coronary artery from the contralateral sinus of Valsalva is associated with exercise-induced ischemia and sudden death. That is thought to be due to aortic enlargement in patients with an elliptical ostium. We hypothesize that virtual angioscopy can identify abnormal coronary ostial morphology in these patients. Full-Text PDF