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.

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.

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.

Clinical significance of abnormal electrocardiographic patterns in trained athletes.

BACKGROUND-The prevalence, clinical significance, and determinants of abnormal ECG patterns in trained athletes remain largely unresolved. METHODS AND RESULTS-We compared ECG patterns with cardiac morphology (as assessed by echocardiography) in 1005 consecutive athletes (aged 24+/-6 years; 75% male) who were participating in 38 sporting disciplines. ECG patterns were distinctly abnormal in 145 athletes (14%), mildly abnormal in 257 (26%), and normal or with minor alterations in 603 (60%). Structural cardiovascular abnormalities were identified in only 53 athletes (5%). Larger cardiac dimensions were associated with abnormal ECG patterns: left ventricular end-diastolic cavity dimensions were 56. 0+/-5.6, 55.4+/-5.7, and 53.7+/-5.7 mm (P<0.001) and maximum wall thicknesses were 10.1+/-1.4, 9.8+/-1.3, and 9.3+/-1.4 mm (P<0.001) in distinctly abnormal, mildly abnormal, and normal ECGs, respectively. Abnormal ECGs were also most associated with male sex, younger age (<20 years), and endurance sports (cycling, rowing/canoeing, and cross-country skiing). A subset of athletes (5% of the 1005) showed particularly abnormal or bizarre ECG patterns, but no evidence of structural cardiovascular abnormalities or an increase in cardiac dimensions. CONCLUSIONS-Most athletes (60%) in this large cohort had ECGs that were completely normal or showed only minor alterations. A variety of abnormal ECG patterns occurred in 40%; this was usually indicative of physiological cardiac remodeling. A small but important subgroup of athletes without cardiac morphological changes showed striking ECG abnormalities that suggested cardiovascular disease; however, these changes were likely an innocent consequence of long-term, intense athletic training and, therefore, another component of athlete heart syndrome. Such false-positive ECGs represent a potential limitation to routine ECG testing as part of preparticipation screening.

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.

Global left ventricular shape is not altered as a consequence of physiologic remodeling in highly trained athletes.

It is uncertain whether left ventricular (LV) shape is altered as a consequence of intensive athletic conditioning. We assessed LV dimensions and shape by Fourier analysis from digitized LV endocardial borders in 22 elite rowers and 14 untrained controls. Athletes had greatly increased LV cavity dimension, wall thickness, volume, and mass; however, LV shape was normal in athletes, and associated with normal ejection fraction and diastolic filling pattern.

Absence of left ventricular wall thickening in athletes engaged in intense power training.

There is a widely held perception that power training increases left ventricular (LV) wall thickness. Consequently, in individual power-trained athletes, confusion may legitimately occur with regard to the differential diagnosis of athlete's heart and nonobstructive hypertrophic cardiomyopathy. To investigate the effects of systematic strength training on cardiac dimensions (particularly absolute LV wall thickness), 100 relatively young and highly conditioned athletes participating in weight and power lifting, wrestling, bobsledding and weight-throwing events for 3 to 24 years (mean 7) were studied by echocardiography. No athlete showed a maximal absolute LV wall thickness that exceeded the generally accepted upper limits of normal (i.e., 12 mm; range 8 to 12). When compared with 26 normal, sedentary control subjects of similar age and body surface area, maximal septal thickness was mildly but significantly greater in athletes (9.6 +/- 0.8 vs 9.0 +/- 0.5 mm; p < 0.001), as was the calculated LV mass index (96 +/- 12 vs 81 +/- 8 g/m2; p < 0.001); LV end-diastolic cavity dimension was similar in athletes and controls (55 +/- 4 and 54 +/- 3, respectively; p > 0.05). Consequently, echocardiographic data in this selected group of purely strength-trained athletes show that whereas this form of conditioning is associated with increased LV mass and a disproportionate increase in wall thickness in relation to cavity dimension, only modest alterations in absolute wall thickness occur (which do not exceed upper normal limits). Therefore, in highly conditioned, strength-trained, competitive athletes, the presence of substantial LV wall thickening (> 13 mm) should suggest alternative explanations, such as the diagnosis of pathologic hypertrophy (i.e., hypertrophic cardiomyopathy).

Morphology of the "athlete's heart" assessed by echocardiography in 947 elite athletes representing 27 sports.

In the present study, we used echocardiography to investigate the morphologic adaptations of the heart to athletic training in 947 elite athletes representing 27 sports who achieved national or international levels of competition. Cardiac morphology was compared for these sports, using multivariate statistical models. Left ventricular (LV) diastolic cavity dimension above normal (> 54 mm, ranging up to 66 mm) was identified in 362 (38%) of the 947 athletes. LV wall thickness above normal (> 12 mm, ranging up to 16 mm) was identified in only 16 (1.7%) of the athletes. Athletes training in the sports examined showed considerable differences with regard to cardiac dimensions. Endurance cyclists, rowers, and swimmers had the largest LV diastolic cavity dimensions and wall thickness. Athletes training in sports such as track sprinting, field weight events, and diving were at the lower end of the spectrum of cardiac adaptations to athletic training. Athletes training in sports associated with larger LV diastolic cavity dimensions also had higher values for wall thickness. Athletes training in isometric sports, such as weightlifting and wrestling, had high values for wall thickness relative to cavity dimension, but their absolute wall thickness remained within normal limits. Analysis of gender-related differences in cardiac dimensions showed that female athletes had smaller LV diastolic cavity dimension (average 2 mm) and smaller wall thickness (average 0.9 mm) than males of the same age and body size who were training in the same sport.(ABSTRACT TRUNCATED AT 250 WORDS)

Outer limits of physiologic hypertrophy and relevance to the diagnosis of primary cardiac disease.

Athletic training induces a morphologic adaptation of the heart, by increasing left ventricular cavity size and wall thickness. Wall thickening usually ranges up to 12 mm, but in 2% of athletes it may be more marked (13-16 mm). Athletes with the most substantial wall thickening are rowers, canoeists, and cyclists, competitive at elite levels for a substantial period of time. Therefore, physiologic left ventricular hypertrophy probably does not exceed 16 mm in thickness and is usually present in the ventricular septum, associated with an enlarged cavity size. Additional features of the physiologic left ventricular hypertrophy are the regression of wall thickening into normal limits (less than 13 mm) after a period of deconditioning and the consistent normality of the Doppler diastolic filling pattern.

Outer limits of the athlete's heart, the effect of gender, and relevance to the differential diagnosis with primary cardiac diseases.

Two concepts from pathologic descriptions of myocardial hypertrophy in trained individuals merit consideration: (1) The heart of the trained athlete can be twice the normal size, but histologic structure remains intact, and (2) the weight of the trained heart does not usually surpass the limit of 500 g, defined as the critical heart weight. Even though this threshold cannot be accepted dogmatically, the concept of an upper limit for physiologic cardiac remodeling is nevertheless relevant to the clinical question of distinguishing extreme expressions of athlete's heart from primary pathologic conditions. This morphologic distinction depends on whether the magnitude of cardiac remodeling in athletes exceeds that expected as a result of athletic conditioning alone. There has also been a great interest in understanding the impact that types of athletic conditioning and gender have on defining the upper limits to which such physiologic hypertrophy may extend.

[Continuous localized EEG discharges during sleep in children]. / Décharges EEG localisées continues pendant le sommeil chez l'enfant.

Continuous generalized spike-and-wave complexes occurring during slow-sleep were first observed in some children by Patry et al. (1971). A general review of the reported cases was made by Tassinari et al. (1984). We have observed a new clinical-EEGraphic picture. Spikes and spike-and-wave complexes localized to one hemisphere were recorded during at least 85% non-REM sleep both in 3 quadriplegic and in 3 hemiplegic mentally retarded children, aged from 2 years and 10 months to 11 years (mean age: 5 years and 2 months). Cyclic organization of sleep was almost normal. Wake EEG showed an epileptic focus. Brain CT showed midline defect and brain atrophy in quadriplegic patients, and a wide temporal-parietal porencephalic cyst in hemiplegic patients. This EEGraphic pattern was associated with a more pronounced mental impairment: neuropsychological improvement was observed in 2 cases, when continuous sleep discharges disappeared. As aforesaid, this picture seems to be related either to hemispheric or to midline brain defects. In our cases, sleep phase organization could be examined, while continuous generalized discharges occurring during sleep do not allow such a study.

The electrocardiographic T wave changes in highly trained athletes during training. An old problem revisited.

OBJECTIVE: To evaluate the T-wave pattern alterations during vigorous training in elite athletes. SETTING: Institute of Sport Science in Rome and National Rowing Center in Piediluco, Italy. STUDY POPULATION: Nine male and 7 female rowers of the national team were examined prospectively at different times of their conditioning period. METHODS: All athletes underwent electrocardiography and echocardiography; the ecg was analyzed for QRS voltages and axis, T-wave pattern and QTc interval; from echocardiography the left ventricular (LV) cavity dimension, wall thickness and mass were calculated. From Doppler-echocardiography the transmitral diastolic LV filling pattern was evaluated. RESULTS: Variation of T-wave voltages was seen in all the athletes. Specifically, during the low-intensity training period the T-wave pattern was positive and increased in voltage (T-wave max amplitude in V6 increased to 130% in male and 100% in female than pretraining values). During the peak training a variety of patterns was observed, and a transient flattening was present in 50% of subjects. No concomitant alteration of heart rate, QRS and T-wave axis and QTc duration were observed. No significant changes of cavity dimension, wall thickness, LV mass index and Doppler-derived diastolic peak flow velocities were detected during the study period. CONCLUSIONS: Transient changes of T-wave pattern may occur in athletes as an effect of athletic conditioning, without changes of cardiac dimension or alteration of indexes of LV function. This finding supports the role of ecg monitoring to follow-up the individual athletes response to training exercise load.

[Peripheral neuropathy in infantile and juvenile diabetes. A neurophysiological study]. / La neuropatia periferica nel diabete infantile e giovanile. Studio neurofisiologico.

We report on the results of a study on the peripheral nerve function in 40 patients with type I diabetes mellitus with onset in pediatric age. Results have shown a significant decrease in motor and sensory nerve conduction velocities (NCV) in a high percentage of cases, correlated with the degree of metabolic control. The finding of NCV slowing also in patients with a history of diabetes of less than 10 years and the presence in these cases of a high number of complications (autonomic neuropathy, nephropathy, retinopathy) may suggest that peripheral neuropathy is an early-onset complication and that its prompt recognition through neurophysiological investigations can have some predictive value in forecasting other complications. This hypothesis is to be verified through prospective studies.

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.

[Role of splenectomy in Chediak-Higashi syndrome in its accelerated phase]. / Ruolo della splenectomia nella sindrome di Chediak-Higashi (SCH) in fase accelerata.

Chediak-Higashi (C.H.S.) syndrome is a rare immunodeficiency, due to defective granulocyte activity. The syndrome is characterized by large inclusion bodies in the leukocytes, albinism, photophobia, nystagmus, and recurrent infections. Some patients develop hepatosplenomegaly, lymphadenopathy, pancytopenia and widespread organ infiltrates with mononucleated cells. This phase is called "accelerated (or lymphoma-like syndrome) phase". A 5 years old girl with C.H.S. in accelerated phase received initially medical treatment without improvement. A splenectomy was performed to remove the hypersplenism and the mechanical compression of the spleen on the gut. Few days after the splenectomy the fever and the pancytopenia disappeared. The pathological examination of the spleen showed multiple intraparenchymal abscesses. Unfortunately, six months after the operation, she died after an acute episode of pneumonia, with normal hematological pattern. The splenectomy may play a role in the "accelerated phase" of C.H.S., but new treatments (bone marrow transplantation) are necessary to remove the basic disease.

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.