Inherited cardiomyopathies and sports participation.

Competitive sports activity is associated with an increased risk of sudden cardiovascular death in adolescents and young adults with inherited cardiomyopathies. Many young subjects aspire to continue competitive sport after a diagnosis of cardiomyopathy and the clinician is frequently confronted with the problem of eligibility and the request of designing specific exercise programs. Since inherited cardiomyopathies are the leading cause of sudden cardiovascular death during sports performance, a conservative approach implying disqualification of affected athletes from most competitive athletic disciplines is recommended by all the available international guidelines. On the other hand, we know that the health benefits of practicing recreational sports activity can overcome the potential arrhythmic risk in these patients, provided that the type and level of exercise are tailored on the basis of the specific risk profile of the underlying cardiomyopathy. This article will review the available evidence on the sports-related risk of sudden cardiac death and the recommendations regarding eligibility of individuals affected by inherited cardiomyopathies for sports activities.

Impaired energy expenditure despite normal cardiovascular capacity in children with type 1 diabetes.

BACKGROUND: Benefit of fitness on children with type 1 diabetes mellitus (T1DM) is still debated. AIM: To evaluate the influence of physical activity on metabolic balance and exercise tolerance in prepubertal children affected by T1DM. METHODS: We analyzed 35 pre-/peripubertal T1DM children and 31 matched controls using an activity monitor (SenseWear Armbad) and physical activity questionnaire (PAQ) to assess energy expenditure (EE), total and active, sedentary and physical activities (h/day and Mets = metabolic equivalents). The maximal cardiopulmonary exercise test (CPET) was also performed. RESULTS: Total physical activities and total and active EE (>3 Mets) resulted higher in controls than in T1DM patients and self-reported perception of physical and sedentary activities was altered in T1DM children as well in controls and were different from the measured data. No differences were found in CPET parameters with the exception of a higher maximal blood pressure in T1DM children. In multivariate analysis HbA1c negatively correlated with VO(2). CONCLUSION: Prepubertal T1DM children seem to have a lower level of physical activity and EE and a probable altered feeling of physical and sedentary activities. On the other hand, T1DM children do not show any alteration of cardiovascular performance, although glycemic control (HbA1c) may play a role in cardiovascular performance.

Importance of characteristics and modalities of physical activity and exercise in the management of cardiovascular health in individuals with cardiovascular risk factors: recommendations from the EACPR. Part II.

In a previous paper, as the first of a series of three on the importance of characteristics and modalities of physical activity (PA) and exercise in the management of cardiovascular health within the general population, we concluded that, in the population at large, PA and aerobic exercise capacity clearly are inversely associated with increased cardiovascular disease risk and all-cause and cardiovascular mortality and that a dose­response curve on cardiovascular outcome has been demonstrated in most studies. More and more evidence is accumulated that engaging in regular PA and exercise interventions are essential components for reducing the severity of cardiovascular risk factors, such as obesity and abdominal fat, high BP, metabolic risk factors, and systemic inflammation. However, it is less clear whether and which type of PA and exercise intervention (aerobic exercise, dynamic resistive exercise, or both) or characteristic of exercise (frequency, intensity, time or duration, and volume) would yield more benefit for each separate risk factor. The present paper, therefore, will review and make recommendations for PA and exercise training in the management of cardiovascular health in individuals with cardiovascular risk factors. The guidance offered in this series of papers is aimed at medical doctors, health practitioners, kinesiologists, physiotherapists and exercise physiologists, politicians, public health policy makers, and individual members of the public. Based on previous and the current literature overviews, recommendations from the European Association on Cardiovascular Prevention and Rehabilitation are formulated regarding type, volume, and intensity of PA and regarding appropriate risk evaluation during exercise in individuals with cardiovascular risk factors.

Incidence and aetiology of sudden cardiac death in young athletes: an international perspective.

The incidence of sudden cardiac death (SCD) among young athletes is estimated to be 1-3 per 100,000 person years, and may be underestimated. The risk of SCD in athletes is higher than in non-athletes because of several factors associated with sports activity that increase the risk in people with an underlying cardiovascular abnormality. A clear gender difference in the incidence of SCD exists in young athletes, with the risk in male athletes being up to 9 times higher than in female athletes. The most common causes of SCD in young athletes is underlying inherited/congenital cardiac disease, such as cardiomyopathies, congenital coronary anomalies and ion channelopathies. Blunt chest trauma also may cause ventricular fibrillation in a structurally normal heart, known as commotio cordis. Although geographical differences in the causes of SCD in young athletes have been reported, these disparities are more likely to be related to the type and implementation of pre-participation screening leading to the identification of athletes at risk, rather than reflecting a truly different ethiology. More studies are needed to clarify the role of ethnicity in the prevalence of diseases known to cause SCD in young athletes.

12-lead ECG in the athlete: physiological versus pathological abnormalities.

Participation in sports activity and regular physical training is associated with physiological structural and electrical changes in the heart (athlete's heart) that enable sustained increases in cardiac output for prolonged periods. Cardiovascular remodelling in the conditioned athlete is often associated with ECG changes. In rare cases, abnormalities of an athlete's ECG may reflect an underlying heart disease which puts the athlete at risk of arrhythmic cardiac arrest during sport. It is mandatory that ECG abnormalities resulting from intensive physical training and those of a potential cardiac pathology are properly defined. This article provides a modern approach to interpreting 12-lead ECGs of athletes based on recently published new findings. The main objective is to distinguish between physiological adaptive ECG changes and pathological ECG abnormalities. The most important aims are to prevent physiological changes in the athlete being erroneously attributed to heart disease, or signs of life-threatening cardiovascular conditions being dismissed as a normal variant of athlete's heart. As pathological ECG abnormalities not only cause alarm but also require action with additional testing to exclude (or confirm) the suspicion of a lethal cardiovascular disorder, appropriate interpretation of an athlete's ECG will prevent unnecessary distress and also result in considerable cost saving in the context of a population-based preparticipation screening programme.

Cardiac findings in the precompetition medical assessment of football players participating in the 2009 African Under-17 Championships in Algeria.

OBJECTIVES: To screen all players registered for the 8th CAF African Under-17 Championship for risk factors of sudden cardiac death. DESIGN: Standardised cardiac evaluation prior to the start of the competition. STUDY POPULATION: 155 male football players from all eight qualified teams; mean age 16.4 (SD 0.68) years (range 14 to 17). METHODS: The cardiac evaluation consisted of a medical history, clinical examination, 12-lead resting electrocardiogram (ECG) and echocardiography, and was performed by three experienced cardiologists using established guidelines. RESULTS: Nine (5.8%) players reported cardiac symptoms, and the clinical examination was abnormal in only two players with elevated blood pressure. A total of 40 players (25.8%) showed abnormal ECG patterns. None of the players with a positive ECG showed correlating echocardiographic findings. The echocardiogram of one player appeared highly suspicious for early-stage hypertrophic cardiomyopathy, and in another player the myocardium was suspicious for non-compaction cardiomyopathy, but both had normal ECGs. Thirteen (8.4%) players showed echocardiographic findings that needed further follow-up. The percentage of players with pathological ECG patterns and some abnormal echocardiographic measurements varied substantially between different ethnic groups. CONCLUSION: Cardiological screening for risk factors of sudden cardiac death of football players prior to an international competition proved feasible, and conduction by independent experts allowed high-quality standards and a consistent protocol for the examinations. Differences observed between ethnic groups indicate that guidelines for the analysis of ECGs and echocardiography might be adjusted to the target population.

Is the Alifax Test-1TH useful to determine the Disease Activity Score (DAS28) in rheumatoid arthritis patients?

Treatment of rheumatoid arthritis (RA) is monitored with the disease activity score (DAS28), for which the erythrocyte sedimentation rate (ESR) is needed. Apart from the original gold standard method, other methods like the Alifax Test-1TH apparatus are widely used in laboratory worldwide. We compared ESR values obtained by the Alifax Test-1Th apparatus and the gold standard method for 218 RA patients. We found a good correlation (r=0.87) between the Alifax Test-1TH results and the gold standard method. A good correlation (r=0.96) was also found for the DAS28 results obtained with both methods. The number of patients that were misclassified when the Alifax Test-1TH is used is reasonable for both the ESR (14.7%) and the DAS28 (10.6%). These results suggest that it may be useful to determine the ESR by the Alifax Test-1TH, with a DAS28 misclassification in less than 11% of the patients.

Cortical maldevelopment in congenital cytomegalovirus infection transmitted by a woman with preexisting immunity.

Although cytomegalovirus (CMV) congenital infection is more severe in children born to women with primary infection, neurological symptoms have also been observed in infants born to mothers with preconceptional immunity. The authors describe for the first time a case of severe cortical development disorder associated with multiple abnormalities of the white matter, occurring in the second-born child of a woman found to be positive for anti-CMV immunoglobulin G (IgG) before pregnancy. CMV DNA was detected in the urine and blood of the infant. These findings indicate that the neurological outcome of CMV infection may be severe also in infants born to women with preexisting immunity.

The natural course of bicuspid aortic valve in athletes.

The purpose of this study was to evaluate the impact of a long-term athletic training on the clinical course of bicuspid aortic valve. A group of 81 athletes (73 M, 8 F, 22.7 +/- 5.6 years) with bicuspid aortic valve was collected. Based on clinical and echocardiographic criteria, athletes were initially divided into 2 groups: the low-risk (51 athletes) and the high-risk group (30 athletes). The high-risk athletes were disqualified from training and competitions after the first evaluation. Over the follow-up period, all of them showed significant worsening of morphologic and hemodynamic features of bicuspid aortic valve; two underwent surgical valvular repair and one of them died suddenly. Over the same period, six of the initially low-risk athletes (7%) showed significant worsening of morphologic features of bicuspid aortic valve and/or incidence of symptoms which led to their disqualification from competition. At the end of follow-up, we observed that in high-risk subjects the progression of valvular disease occurred independently from the former athletic activity and that the majority of athletes with mild bicuspid aortic valve had a benign clinical course. However, athletes with bicuspid aortic valve should be viewed with caution, and continued clinical surveillance would be mandatory.

Panayiotopoulos syndrome: diagnosis and management.

Panayiotopoulos syndrome is a relatively frequent and benign epileptic syndrome, characterised by predominantly autonomic symptoms and/or simple motor focal seizures followed or not by impairment of consciousness. Interictal EEG shows occipital spikes although multifocal spikes with high amplitude sharp-slow wave complexes at various locations can be present. This syndrome can imitate gastroenteritis, encephalitis, syncope, migraine, sleep disorders or metabolic diseases. The peculiar aspects should be known not only by epileptologists but also by general doctors because a correct diagnosis would avoid aggressive interventions and concerns on account of its benign outcome. This review focuses on the main clinical and EEG features of this epilepsy underlining its typical and atypical symptoms and its management.

Partial idiopathic epilepsy: recovery after allergen-free diet.

The hypothesis that certain foods or allergens might bring about convulsions has been suggested repeatedly in the literature over the last century. Some clinical studies have highlighted an unusually high prevalence of allergic disorders in patients with epilepsy. This paper reports the consistent disappearance of partial idiopathic epilepsy symptoms in a nine-year-old patient as a result of diet free of cow's milk protein. This case appears to confirm the possible role of food allergy in certain types of epilepsy in patients of pediatric age.

Novel antitenascin antibody with increased tumour localisation for Pretargeted Antibody-Guided RadioImmunoTherapy (PAGRIT).

The Pretargeted Antibody-Guided RadioImmunoTherapy (PAGRIT) method is based on intravenous, sequential administration of a biotinylated antibody, avidin/streptavidin and (90)Y-labelled biotin. The hybridoma clone producing the monoclonal antitenascin antibody BC4, previously used for clinical applications, was found not suitable for further development because of the production of an additional, nonfunctional light chain. In order to solve this problem, the new cST2146 hybridoma clone was generated. The monoclonal antibody ST2146, produced by this hybridoma, having the same specificity as BC4 but lacking the nonfunctional light chain, was characterised. ST2146 was found able to bind human tenascin at an epitope strictly related, if not identical, to the antigenic epitope of BC4. It showed, compared to BC4, higher affinity and immunoreactivity and similar selectivity by immunohistochemistry. Biodistribution studies of biotinylated ST2146 and three other monoclonal antitenascin antibodies showed for ST2146 the highest and more specific tumour localisation in HT29-grafted nude mice. On the overall, ST2146 appears to be a good alternative to BC4 for further clinical development of PAGRIT.

Perforated aneurysms of left side valves during active infective endocarditis complicating hypertrophic obstructive cardiomyopathy.

The most frequent site of vegetative lesion in patients with hypertrophic cardiomyopathy is anterior mitral leaflet, due to chronic endocardial trauma arising from systolic anterior motion. We describe three cases of serious infective endocarditis complicated lesions (vegetation, aneurysm and perforation) on aortic and mitral valves, in patients with obstructive hypertrophic cardiomyopathy. In particular, we observed how severe valvular damage and dysfunction, combined with particular hemodynamic conditions, are followed by adverse clinical outcome. We performed transthoracic echocardiogram and transoesophageal echocardiography studies to define morphologic and hemodynamic features of infection, deciding the proper therapy and we planned the echocardiographic follow-up.

Exercise-related syncope in young competitive athletes without evidence of structural heart disease. Clinical presentation and long-term outcome.

AIMS: Exercise-related syncopal spells in athletes receive great attention and are a source of anxiety in the sporting world. The aim of the present study is to describe the clinical presentation, the yield of the initial diagnostic work-up and the long-term outcome of a series of consecutive competitive athletes with recurrent exercise-related syncopal spells. METHODS AND RESULTS: The study cohort included 33 athletes (20 females, mean age 21.4+/-3.2 years) referred for recurrent unexplained episodes of exercise-related syncope (mean number of spells before evaluation 4.66+/-1.97). All athletes underwent an extensive evaluation, including echocardiography, 24-h electrocardiographic monitoring, exercise testing, cardiac electrophysiological study and head-up tilt testing. The echocardiographic examination revealed the presence of a mitral valve prolapse in two cases (6.0%). During maximal exercise testing, four athletes (12.1%) developed hypotension associated with pre-syncope. Twenty-two subjects (66.6%) showed a positive response to head-up tilt testing. During follow-up (33.5+/-17.2 months) 11/33 athletes (33.3%) showed at least one recurrence of exercise-related syncope (mean time to first recurrence 20.4+/-14.5 months). No other adverse event of any kind was noted during follow-up. The Kaplan-Meier estimates of first recurrence of exercise-related syncope after 12, 36 and 60 months were 9.1%, 24.4% and 42.9%. The number and frequency of exercise-related syncopal spells before evaluation were found to be univariate predictors of syncope recurrence (P<0.001). However, in the multivariate analysis, the number of exercise-related syncopal spells before evaluation was found to be the only independent predictor of syncope recurrence (P<0.05). CONCLUSIONS: These findings support the idea that recurrent exercise related-syncope is not associated with an adverse outcome in athletes without cardiac disease.

Arrhythmogenic right ventricular cardiomyopathy.

Arrhythmogenic right ventricular (RV) cardiomyopathy (ARVC) is a cardiomyopathy characterized pathologically by fibrofatty replacement primarily of the RV and clinically by life-threatening ventricular arrhythmias in apparently healthy young people. The prevalence of the disease has been estimated at 1 in 5,000 individuals, although this estimate will likely increase as awareness of the condition increases among physicians. Arrhythmogenic RV cardiomyopathy is recognized as a cause of sudden death during athletic activity because of its association with ventricular arrhythmias that are provoked by exercise-induced catecholamine discharge. Diagnosis may be difficult because many of the electrocardiographic abnormalities mimic patterns seen in normal children, and the disease often involves only patchy areas of the RV. For this reason, international diagnostic criteria for ARVC were proposed by an expert consensus panel in 1996. Treatment is directed to preventing life-threatening cardiac arrhythmias with medications and the use of implantable defibrillators. This article will present in detail the etiology, clinical presentation, diagnosis and management of this condition.