Preparticipation cardiovascular screening

Regular aerobic exercise provides many health benefits regardless of age, and should be promoted by health care providers to all patients. In older athletes, coronary artery disease is the most common cause of sudden death. There is widespread consensus, however, that the overall health benefits derived from exercise outweigh the risks of participation. Screening should focus on identifying signs and symptoms of underlying cardiovascular disease by obtaining a personal and family history and performing a focused physical examination according to the recommendations of the AHA. Exercise testing is recommended in males older than 40 and females older than 50, and individuals with cardiac risk factors. Cardiovascular PPE screening in young athletes remains a challenge, because potentially fatal abnormalities are uncommon and in some cases are undetectable without sophisticated testing. Most sudden cardiac deaths in athletes are caused by anomalies that are clinically silent, are rare, or are difficult to detect by history and physical examination. Many athletes may not experience symptoms consistent with heart disease or may not report family histories of sudden cardiac death. Important clues to a cardiac abnormality include history of syncope, chest pain, and family history of sudden death. Any underlying condition suspected on the basis of history or physical examination requires further diagnostic evaluation before the athlete can be cleared for activity. Currently there is considerable variability and inconsistency among state requirements for PPEs. A national adoption of a more uniform PPE screening process should be encouraged. The screening process should include the AHA's cardiovascular screening recommendations, as this would assist in closing the gap between screening practices recommended by sports medicine experts and the reality of current screening practices. Although the extent of screening continues to be debated, clinical guidelines for performing PPEs and determining clearance have been established. Without a uniform implementation of the current guidelines, it will not be possible to assess the value of the current cardiovascular screening recommendations in detecting and preventing cardiovascular death in young athletes. Physicians should be aware of the emerging role of genetic testing for cardiovascular diseases in athletes with a family history of heart disease or sudden death. Advances in the diagnosis and understanding of cardiovascular disease may provide better tools for preventing sudden death of young athletes in the future [11].     

Cardiac issues in the young athlete

Young athletes are disproportionately plagued with congenital cardiac disease. Many of these diseases predispose to sudden cardiac death (SCD), a dramatic and tragic outcome for any young athlete. In many cases, conditions that predispose to SCD do not cause symptoms or show signs on examination, making diagnosis of cardiac disease and prevention of SCD difficult. Clinicians should be familiar with common causes of SCD and their symptoms, perform careful evaluations, refer athletes in whom there are concerns, and make sure any concerning findings receive thorough evaluation. Clinicians should also be familiar with and follow recent guidelines on return to play. Unfortunately, most preparticipation examinations are inadequate, due in part to use of inadequate forms. Better forms are available and should replace inadequate ones.     

Cardiovascular screening of athletes.

Cardiovascular screening of athletes is a challenging aspect of the preparticipation evaluation. While sudden cardiac death in young athletes is uncommon, preparticipation screening may identify some predisposing conditions that place individuals at increased risk. The most common pre-existing cardiac abnormalities in athletes causing sudden death in the United States are hypertrophic cardiomyopathy, congenital coronary anomalies, and Marfan syndrome. Preparticipation cardiovascular screening should pursue any history of cardiac symptoms or family history of premature cardiac disease, as well as abnormal cardiovascular physical findings. Positive findings should be investigated; an electrocardiogram, echocardiogram, or consultation with a specialist should be considered. Recommendations are then available to guide athletic participation according to the cardiovascular diagnosis.     

猝死型冠心病抑或J波综合征

目的：探讨无冠心病史而心脏性猝死患者病因及发病机制。方法：对我院2例典型患者,围绕其病史、发病时症状及相关检查化验,结合心肌电离子基础进行综合分析。结果：2例心脏性猝死患者1例生存,另1例死亡。但均不具备冠心病特征,发病后相关指标的异常应为心脏骤停及相关综合因素所决定。结论：无冠心病史而心脏性猝死患者本身可能存在心肌电紊乱基础,在特定的诱因下使心室外膜2期复极电位差的进一步增大出现折返诱发室颤而使心脏骤停,归属于J波综合征较为合理。     

Marfan syndrome: screening for sudden death in athletes

Marfan syndrome is a common, preventable cause of sudden cardiac death in the athlete. It is an autosomaldominant disorder of connective tissue with variable penetration that affects multiple organ systems. Aortic root aneurysm rupture or dissection is the most common cause of sudden death. A directed family and personal history, in addition to a search for characteristic physical stigmata, can optimize the screening of athletes during the preparticipation evaluation. Athletes who have pertinent findings on the preparticipation evaluation should undergo further diagnostic evaluation. Echocardiography is essential to rule out cardiovascular involvement in those suspected of having Marfan syndrome, and should be mandated when positive pertinent family or personal history is elicited or when cardiac abnormalities are detected. Fortunately, due to characteristic historic and clinical findings, Marfan syndrome can be detected early, allowing appropriate treatment and ultimately prevention of sudden death in affected athletes.     

The assessment and management of arrhythmias and syncope in the athlete

In recent years the media have reported on the unexpected deaths of prominent athletes and highlighted the sudden cardiac death syndrome. In some cases, there may have been no preceding symptoms to alert coaches or physicians of the impending event. Although sudden cardiac death is rare, there are a number of clinical syndromes that can be diagnosed by careful screening of asymptomatic or minimally symptomatic athletes. In many of these conditions, appropriate intervention can substantially reduce the risk of death. Cardiac arrhythmia and syncope are particularly important symptoms in athletes and may be the initial manifestations of a potentially lethal condition. In this article we pay specific attention to assessing the cardiac risk of athletes presenting with these symptoms.     

Imaging spectrum of sudden athlete cardiac death

Sudden athlete death (SAD) is a widely publicized and increasingly reported phenomenon. For many, the athlete population epitomize human physical endeavour and achievement and their unexpected death comes with a significant emotional impact on the public. Sudden deaths within this group are often without prior warning. Preceding symptoms of exertional syncope and chest pain do, however, occur and warrant investigation. Similarly, a positive family history of sudden death in a young person or a known family history of a condition associated with SAD necessitates further tests. Screening programmes aimed at detecting those at risk individuals also exist with the aim of reducing fatalities. In this paper we review the topic of SAD and discuss the epidemiology, aetiology, and clinical presentations. We then proceed to discuss each underlying cause, in turn discussing the pathophysiology of each condition. This is followed by a discussion of useful imaging methods with an emphasis on cardiac magnetic resonance and cardiac computed tomography and how these address the various issues raised by the pathophysiology of each entity. We conclude by proposing imaging algorithms for the investigation of patients considered at risk for these conditions and discuss the various issues raised in screening.     

Sudden unexpected death in young adults with chronic hydrocephalus

We present four cases of sudden unexpected death in young adults with chronic hydrocephalus. The patients were between 20 and 28 years of age and had suffered from aqueduct stenosis (two patients), spina bifida in combination with Arnold-Chiari malformation (type II) and fragile X-syndrome. The patients suddenly collapsed with cardiorespiratory failure and could not be resuscitated and none had a history of headache or seizures. The post-mortem examinations revealed no unusual findings and a definite cause of death could not be established. Neuropathological examination revealed chronically hydrocephalic brains without any signs of uncal or tonsillar herniation. We hypothesise that a sudden pressure-induced decompensation of cerebral neuronal pathways involving insular and limbic cortex, hypothalamus and brain stem nuclei, may have caused disturbances of the cardiopulmonary control centres in the reticular formation of the brain stem, which in turn may have led to instantaneous cardiorespiratory arrest resulting in sudden “neurogenic” cardiac death. Received: 24 July 2000 / Accepted: 7 November 2000     

The roles of gallium-67 scintigraphy, ultrasonography, and computed tomography in the detection of abdominal abscesses

The evaluation of patients with suspected abdominal abscesses begins with a history and careful physical examination. Gallium-67 (67Ga) scintigraphy, ultrasonography (US), and computed tomography (CT) are utilized only after other routine investigations have failed to localize the abscess. All three modalities are reliable for the detection of abdominal abscesses. The decision regarding which of these three diagnostic tests to use in a particular patient rests upon clinical considerations. If the patient has acute localizing signs and symptoms, 67Ga should not be used initially. In this type of patient, rapid diagnosis is best provided by either US or CT. Further radiologic investigation may be terminated if the CT or US findings are characteristic of an abscess. A 67Ga scan should be performed in a patient with acute localizing signs and symptoms if the initial CT or US is negative. In a patient with nonlocalizing signs and symptoms, 67Ga imaging should be employed as the first procedure since the entire body is easily surveyed. If the 67Ga images are abnormal, then CT or US should be utilized for further lesion characterization. This diagnostic approach will optimize the rapidity of patient evaluation and will minimize diagnostic errors.     

38例院前猝死回顾性调查

目的分析老年患者发生院前猝死的危险因素。方法回顾性分析北京某社区1993-2004年38例老年院前猝死病例,调查猝死患者生前已诊断疾病情况,猝死前状态及诱因、发病季节及时间。结果高血压、冠心病、糖尿病是老年猝死患者生前罹患比率最高的前三位基础疾病,分别占78．94％、55．26％和44．73％。4月份猝死事件发生最多;73．68％发生在早6时～晚6时;发生在患者家中占81．57％。结论老年患者心血管疾病可能是导致猝死的主要原因,有心肌梗死、心律失常、心功能不全的患者是发生猝死的高危人群;事件发生突然,往往无明显先兆。     

The congenital disorder of glycosylation in PGM1 (PGM1-CDG) can cause severe cardiomyopathy and unexpected sudden cardiac death in childhood

IntroductionSudden cardiac death (SCD) in the young is rare and should always lead to suspicion of a genetic cardiac disorder. We describe a family, in which the proband was a girl deceased by sudden cardiac death in the playground at thirteen years of age. The index-patient had short stature, cleft palate but no previous cardiac symptoms. We found an uncommon cause of cardiomyopathy, due to a congenital disorder of glycosylation (CDG), previously described to cause a variable range of usually mild symptoms, and not previously found to cause SCD as the first symptom of the condition.MethodsThe index patient underwent postmortem genetic testing/molecular autopsy for genes known to cause SCD, without a detection of causative agent, why two siblings of similar phenotype as the deceased sister underwent clinical-exome genetic sequencing (next generation sequencing). All first-degree relatives underwent clinical examination including cardiac ultrasound, Holter-ECG, exercise stress test and biochemistry panel.ResultsA genetic variant in the gene for phosphoglucomutase 1 (PGM1) was identified in the index patient and her two brothers, all were found to be homozygous for the genetic variant (G230E) NM_002633.2:c.689 G > A in PGM1. This variant has been linked to a congenital disorder of glycosylation (PGM1-CDG), explaining the clinical picture of short stature, cleft palate, liver engagement and cardiomyopathy. During follow-up one of the brothers died unexpectedly after physical exertion during daily life at the age of twelve years. The other brother fainted during similar circumstances at the age of thirteen years. Both parents and three other siblings were found to be heterozygous gene carriers without risk for the disease.ConclusionOur findings suggest that there is a need of multidisciplinary discussion and genetic testing after unexpected cardiac death in the young. We have to be more flexible in our evaluation of diseases and to consider even uncommon diseases including rare recessive inherited disorders. Our findings also suggest that the autosomal recessive PGM1-CDG might be highly associated with life-threatening cardiomyopathy with arrhythmia or sudden cardiac death as the first symptom presenting from childhood and adolescence.     

Life-Threatening Ventricular Arrhythmias: Current Role of Imaging in Diagnosis and Risk Assessment

Sudden cardiac arrest continues to be a major cause of death from cardiovascular disease but our ability to predict patients at the highest risk of developing lethal ventricular arrhythmias remains limited. Left ventricular ejection fraction is inversely related to the risk of sudden death but has a low sensitivity and specificity for the population at risk. Nevertheless, it continues to be the main variable considered in identifying patients most likely to benefit from implantable defibrillators to prevent sudden death. Imaging myocardial sympathetic innervation with PET and SPECT as well as imaging characteristics of myocardial infarcts using gadolinium-enhanced cardiac magnetic resonance are emerging as imaging modalities that may further refine patient selection beyond ejection fraction. This review will primarily focus on employing advanced imaging approaches to identify patients with left ventricular dysfunction that are most likely to develop lethal arrhythmias and benefit from inserting a primary prevention implantable cardiac defibrillator. While not yet tested in prospective studies, we will review risk prediction models incorporating quantitative imaging and biomarkers that have been developed that appear promising to identify those at highest risk of sudden death.     

Marathon cardiac deaths : the london experience

Data from the London Marathon, with 650,000 completed runs, show that cardiac arrests occur even in the most experienced runners. Although coronary artery disease was the commonest cause of sudden cardiac arrest (SCA) with five deaths and six resuscitations, hypertrophic cardiomyopathy or idiopathic left ventricular hypertrophy (HCM) was diagnosed at autopsy on three occasions. HCM deaths had the same average age as the runners with ischaemic heart disease who had SCA or sudden cardiac death. The cardiac arrests were at the finish in less than one-third of cases and the remainder occurred between 6 and 26 miles on the course. Only one of the eight runners who died had reported symptoms to his family or physician suggestive of cardiac disease. The runner who had reported pre-race angina pain was investigated with a negative exercise stress test prior to the marathon and despite this died with a left anterior descending coronary artery stenosis. The cardiac death rate for the London Marathon is 1 in 80,000 finishers.     

Practical recommendations and perspectives on cardiac screening for healthy pediatric athletes

Primary care providers often are asked to perform the preparticipation physical exam and cardiac screening of pediatric athletes. It can be challenging to evaluate which athletes may require further cardiac evaluation and specialist referral based on a focused history and physical. There is considerable controversy surrounding mass electrocardiogram (ECG) screening of athletes in the United States. The ECG is one of several diagnostic tests used by pediatric cardiologists in the evaluation of underlying heart disease in young athletes. This article reviews cardiac conditions associated with sudden death, discusses pertinent findings on history and physical, and provides clinically relevant information for practitioners who are deciding which patients to refer for detailed cardiac evaluation.     

The long QT syndrome: considerations in the athletic population

In athletes, ventricular arrhythmias and sudden cardiac death are rare and unpredictable events. Often, an underlying heart disease is present, but pre-existing clinical signs or symptoms may not be recognized. Primary electrical disorders (such as the long QT syndrome) are rarely present in athletes but, so far, are a considerable reason for disqualification from sport activity. These disorders are mostly inherited, and patients should be referred to a cardiologist with special experience. Through the efforts of molecular genetics and cellular electrophysiology, an increasing understanding of the underlying mechanisms of arrhythmogenesis is being gathered. During the past decade, evidence has grown that establishing accurate genetic diagnoses and dissection of molecular disease mechanisms can have an impact on prognosis, and help direct therapy in a range of cardiovascular diseases. Further achievements in the areas of clinical and molecular research, improvement of medical education, and expansion of genotyping facilities will facilitate the correct and immediate identification of affected patients.     

Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases

Cardiomyopathies and channelopathies are major causes of sudden cardiac death. The genetic study of these diseases is difficult because of their heterogenic nature not only in their genetic traits but also in their phenotypic expression. The purpose of the present study is the analysis of a wide spectrum of previously known genetic mutations in key genes related to hypertrophic cardiomyopathy (HCM), long QT syndrome (LQTS), and Brugada syndrome (BrS) development. The samples studied include cases of sudden cardiac death (SCD) in young adults and their relatives in order to identify the real impact of genetic screening of SCD in forensic cases. Genetic screening of described variation in 16 genes implicated in the development of HCM and three more genes implicated in LQTS and BrS was performed by using MassARRAY technology. In addition, direct sequencing of the two most prevalent genes implicated in the development of SQTL type 1 and 2 was also carried out. Genetic screening allowed us to unmask four possibly pathogenic mutation carriers in the 49 SCD cases considered; carriers of mutation represent 9% (2/23) of the probands with structural anomalies found after autopsy and 7% (1/14) of the probands with structurally normal hearts after in depth autopsy protocol. One mutation was found among 12 of the recovered SCD cases considered. In people with direct family history of sudden cardiac death, but not themselves, 11 additional mutation carriers were found. Three different mutations were found in six of the 19 LQTS patients, representing three families and two different mutations were found among six patients with previous syncope. Genetic analysis in sudden cardiac death cases could help to elucidate the cause of death, but it also can help in the prevention of future deaths in families at risk. The study presented here shows the importance and relevance of genetic screening in patients with signs of cardiac hypertrophy and in family cases with more than one relative affected.     

Electrocardiographic findings in sports medicine: Normal variants and the ones that should not be missed

There are a few “red flag” findings in the history and physical examination of an athlete that may require obtaining an electrocardiogram (ECG) as part of a cardiac evaluation. In this article we discuss the normal variants seen in the ECG brought on by regular physical training and ECG abnormalities that are seen with a few of the structural and conduction abnormalities associated with an increased risk of sudden cardiac death. These conditions are all relatively uncommon and the ECG may reveal the first clue to the presence of a potentially significant underlying abnormality. After reading this article the sports medicine practitioner should be able to 1) confidently return to play those athletes with normal variants on their ECG, and 2) not miss the ECG abnormalities of an athlete who requires further evaluation for potentially significant abnormalities prior to participating in athletics.     

Lung metastasis invading the left atrium--CT diagnosis

A case of metastatic colonic adenocarcinoma invading the left atrium is reported in a patient with clinical signs of cardiac tamponade. The intracavitary extension of the tumour was clearly demonstrated by contrast enhanced CT. As CT plays an important role in the evaluation of patients with intrathoracic masses, intravenous contrast medium is recommended in those cases with associated clinical symptoms of heart disease or pericardial effusion. Its use may establish the diagnosis of cardiac involvement.     

Medico legal investigations into sudden sniffing deaths linked with trichloroethylene

Sudden deaths attributed to sniffing trichloroethylene are caused by the abuse of this solvent which produces pleasant inebriating effects with rapid dissipation. In the event of repeated cycles of inhalation, a dangerous and uncontrolled systemic accumulation of trichloroethylene may occur, followed by central nervous system depression, coma and lethal cardiorespiratory arrest.Sometimes death occurs outside the hospital environment, without medical intervention or witnesses and without specific necroscopic signs.Medico legal investigations into sudden sniffing deaths associated with trichloroethylene demand careful analysis of the death scene and related circumstances, a detailed understanding of the deceased's medical history and background of substance abuse and an accurate evaluation of all autopsy and laboratory data, with close cooperation between the judiciary, coroners and toxicologists.     

Cystic tumour of the atrioventricular node: three cases of sudden death

Cystic tumour of the atrioventricular nodal region is a rare primary cardiac tumour that can cause sudden death. Antemortem diagnosis and successful excision of this type of tumour are extremely rare. Three cases of sudden death are reported: A 25- and 40-year-old with a history of heart block and a 60-year-old with no medical history. There have been more than 120 cases of sudden death attributed to primary cardiac tumours in the literature. Although over 100 of these lesions were histologically benign, their intracardiac locations precipitated conductive and haemodynamic abnormalities that resulted in sudden death. The most common intracardiac lesion causing sudden death, cystic tumour of the atrioventricular node, however, may not be discovered unless the atrioventricular node is microscopically examined.