Distinguishing hypertrophic cardiomyopathy from athlete's heart physiological remodelling: clinical significance, diagnostic strategies and implications for preparticipation screening.

Sudden cardiac death in young competitive athletes is an important public health problem, although a relatively low-event-rate phenomenon. The single most common cardiovascular cause of these unexpected catastrophes is hypertrophic cardiomyopathy (HCM), accounting for about one-third of cases. Since the phenotypic expression of HCM is variable, and not uncommonly includes patients with mild and localised left ventricular hypertrophy, the differential diagnosis with physiological remodelling of athlete's heart not uncommonly arises. This review discusses those non-invasive strategies that are useful in distinguishing the benign consequences of systematic athletic training from pathological left ventricular hypertrophy with the potential for sudden cardiac death. Preparticipation screening in healthy general athlete populations may raise the suspicion of HCM, and ultimately lead to definitive diagnosis. However, recently controversy has arisen regarding the most effective and practical strategy for the screening of athletes. European investigators have promoted routine 12-lead ECGs as part of a national mandatory programme distinct from the customary practice in the US which is limited to history and physical examinations. Consensus criteria and recommendations for eligibility and disqualification of athletes with HCM (and other cardiovascular abnormalities) have proved useful to the practising community.

Evidence that pharmacological strategies lack efficacy for the prevention of sudden death in hypertrophic cardiomyopathy.

OBJECTIVE: To determine the efficacy of pharmacological treatment in the prevention of sudden cardiac death in hypertrophic cardiomyopathy (HCM). DESIGN: Clinical outcome was assessed retrospectively in 293 patients with HCM, including 173 who were taking cardioactive medications. SETTING: Department of Cardiology, University of Padua, Padua, Italy; a tertiary HCM Centre. INTERVENTIONS: Medical treatment with beta blockers, verapamil, sotalol and amiodarone. MAIN OUTCOME MEASURE: HCM-related sudden cardiac death. RESULTS: 17 of 173 (10%) patients died suddenly or had aborted cardiac arrest, while being treated continuously with drugs having antiarrhythmic properties, over a period of 62 (56) months. Sudden death occurred in 20% of patients administered amiodarone (6/30), 9% each of patients taking verapamil (4/46) or beta blockers (7/76), and 0% of those taking sotalol (0/21). Patients taking cardioactive drugs (n = 173) and those without pharmaceutical therapy (n = 120) did not differ with respect to sudden death mortality. CONCLUSION: Medical treatment is not absolutely protective against the risk of sudden death in HCM. The present data inferentially support the use of the implantable defibrillator as the primary treatment choice for prevention of sudden death in high-risk patients with HCM.

Distinguishing hypertrophic cardiomyopathy from athlete's heart: a clinical problem of increasing magnitude and significance.

As hypertrophic cardiomyopathy is a common cause of sudden deaths among athletes, differentiating this condition from the non-pathological "athlete's heart" presents an important challenge.

From malignant mutations to malignant domains: the continuing search for prognostic significance in the mutant genes causing hypertrophic cardiomyopathy.

The genetic causes of hypertrophic cardiomyopathy are diverse and thus present challenges in the development of genetic tests to identify patients at risk

Task Force on Sudden Cardiac Death, European Society of Cardiology.

The European Society of Cardiology has convened a Task Force on Sudden Cardiac Death in order to provide a comprehensive, educational document on this important topic. The main document has been published in the European Heart Journal in August 2001. The Task Force has now summarized the most important clinical issues on sudden cardiac death and provided tables with recommendations for risk stratification and for prophylaxis of sudden cardiac death. The present recommendations are specifically intended to encourage the development and revision of national guidelines on prevention of sudden cardiac death. The common challenge for cardiologists, physicians of other medical specialties and health professionals throughout Europe is to realize the potential for sudden cardiac death prevention and to contribute to public health efforts to reduce its burden.

Report of the NASPE policy conference on arrhythmias and the athlete.

INTRODUCTION: This consensus statement summarizes the proceedings of The Expert Consensus Conference on Arrhythmias in the Athlete of the North American Society of Pacing and Electrophysiology (NASPE) on detecting, evaluating, and treating athletes with cardiovascular disorders that predispose to cardiac arrhythmias. METHODS AND RESULTS: The participants in the open policy conference were selected by the codirectors (Drs. Estes and Olshansky) based on expertise and contributions to the literature. All participants provided a referenced summary of their presentation. The writing group used the information from all published scientific studies, clinical trials, registries, clinical experience, and expert opinion to make recommendations regarding screening, evaluation, management, eligibility for competition, and a range of other medical, social, and legal issues regarding the recreational and competitive athlete. The codirectors of the symposium synthesized the participants' reports for this and made revisions according to suggestions of all members of the writing committee. The manuscript was reviewed by four independent reviewers assigned by the NASPE Committee for the Development of Position Statements and NASPE Board of Trustees. CONCLUSION: Despite considerable advances in knowledge regarding the diagnosis, therapy, and mechanisms of arrhythmias in the athlete, much remains unknown. Continued basic, clinical, and epidemiologic research is needed. Current screening techniques to detect athletes lack sensitivity and specificity. Evaluation of standardized screening programs with tracking of long-term outcomes is needed. Officials from athletic, academic, medical, and legal institutions need to form strategic partnerships to develop policy related to assessment of risk and assumption of responsibility for athletic activities.

Impact of atrial fibrillation on the clinical course of hypertrophic cardiomyopathy.

BACKGROUND: Clinical impact of atrial fibrillation (AF) in hypertrophic cardiomyopathy (HCM) is largely unresolved. Thus, we analyzed the prognostic implications of AF in a large, community-based HCM population assembled from Italian and US cohorts. METHODS AND RESULTS: Occurrence of AF and outcome were assessed in 480 consecutive HCM patients (age at diagnosis, 45+/-20 years; 61% male) who were followed up for 9.1+/-6.4 years. AF occurred in 107 patients (22%; incidence, 2%/y) and was independently predicted by advancing age, congestive symptoms, and increased LA size at diagnosis. Patients with AF had increased risk for HCM-related death (OR, 3.7; P<0.002) because of excess heart failure-related mortality but not sudden, unexpected death. This risk associated with AF was substantially greater in patients with outflow obstruction or with earlier development of AF (

Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations.

OBJECTIVES: We sought to determine whether the development of left ventricular hypertrophy (LVH) can be demonstrated during adulthood in genetically affected relatives with hypertrophic cardiomyopathy (HCM). BACKGROUND: Hypertrophic cardiomyopathy is a heterogeneous cardiac disease caused by mutations in nine genes that encode proteins of the sarcomere. Mutations in cardiac myosin-binding protein C (MyBPC) gene have been associated with age-related penetrance. METHODS: To further analyze dormancy of LVH in patients with HCM, we studied, using echocardiography and 12-lead electrocardiography, the phenotypic expression caused by MyBPC mutations in seven genotyped pedigrees. RESULTS: Of 119 family members studied, 61 were identified with a MyBPC mutation, including 21 genetically affected relatives (34%) who did not express the HCM morphologic phenotype (by virtue of showing normal left ventricular wall thickness). Of these 21 phenotype-negative individuals, 9 were children, presumably in the prehypertrophic phase, and 12 were adults. Of the 12 adults with normal wall thickness < or = 12 mm (7 also with normal electrocardiograms), 5 subsequently underwent serial echocardiography prospectively over four to six years. Of note, three of these five adults showed development of LVH in mid-life, appearing for the first time at 33, 34 and 42 years of age, respectively, not associated with outflow obstruction or significant symptoms. CONCLUSIONS: In adults with HCM, disease-causing MyBPC mutations are not uncommonly associated with absence of LVH on echocardiogram. Delayed remodeling with the development of LVH appearing de novo in adulthood, demonstrated here for the first time in individual patients with prospectively obtained serial echocardiograms, substantiates the principle of age-related penetrance for MyBPC mutations in HCM. These observations alter prevailing perceptions regarding the HCM clinical spectrum and family screening strategies and further characterize the evolution of LVH in this disease.

Athlete's heart electrocardiogram mimicking hypertrophic cardiomyopathy.

Highly trained athletes show a variety of electrocardiographic (ECG) changes, including a striking increase of R or S wave voltage, either flat or deeply inverted T waves, and deep Q waves, that suggest the presence of structural cardiovascular disease, such as hypertrophic cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy, which represent the most common causes of sudden death in young competitive athletes. Despite a number of previous observational surveys, the determinants and clinical significance of these abnormal ECG patterns in trained athletes are still uncertain. Therefore, ECG patterns were compared with cardiac morphology (by echocardiography) in a large population of 1005 athletes, who were engaged in a variety of 38 sporting disciplines. We found abnormal ECGs in 40% of our athletes, but structural cardiac diseases were identified in only 5%. In the absence of cardiac disease, other determinants were recognized as responsible for abnormal ECG patterns, including the extent of morphologic cardiac remodeling, participation in an endurance type of sport, and male gender. Finally, a small but important subset of athletes showed striking ECG abnormalities that strongly suggested the presence of cardiovascular disease in the absence of pathologic cardiac conditions or morphologic changes, suggesting that these ECG alterations may be the consequence of athletic conditioning itself.

Clinical significance of atrial fibrillation in hypertrophic cardiomyopathy.

Atrial fibrillation (AF) is the most common sustained arrhythmia in patients with hypertrophic cardiomyopathy (HCM), and it bears numerous pathophysiologic consequences that potentially affect patient outcome and symptoms. However, studies regarding the impact of AF on the long-term prognosis of HCM patients have been limited in number, with sometimes conflicting results. Recently, studies on community-based patient populations showed that AF is associated with long-term clinical deterioration, embolic complications, and increased cardiovascular mortality due to heart failure and stroke. The consequences of AF on the long-term prognosis of HCM patients are not uniformly unfavorable, however, and in about one third of patients the arrhythmia is compatible with an uneventful course.