Cardiac rhabdomyomas are benign cardiac tumours with few cardiac complications, but with a known association to tuberous sclerosis that affects the neurologic outcome of the patients. We have analysed the long-term cardiac and neurological outcomes of patients with cardiac rhabdomyomas in order to allow comprehensive prenatal counselling, basing our findings on the records of all patients seen prenatally and postnatally with an echocardiographic diagnosis of cardiac rhabdomyoma encountered from August, 1982, to September, 2007. We analysed factors such as the number and the location of the tumours to establish their association with a diagnosis of tuberous sclerosis, predicting the cardiac and neurologic outcomes for the patients.

Cardiac complications include arrhythmias, obstruction of the ventricular outflow tracts, and secondary cardiogenic shock. Arrhythmias were encountered most often during the neonatal period, with supraventricular tachycardia being the commonest rhythm disturbance identified. No specific dimension or location of the cardiac rhabdomyomas predicted the disturbances of rhythm.

The importance of the diagnosis of tuberous sclerosis is exemplified by the neurodevelopmental complications, with four-fifths of the patients showing epilepsy, and two-thirds having delayed development. The presence of multiple cardiac tumours suggested a higher risk of being affected by tuberous sclerosis. The tumours generally regress after birth, and cardiac-related problems are rare after the perinatal period. Tuberous sclerosis and the associated neurodevelopmental complications dominate the clinical picture, and should form an important aspect of the prenatal counselling of parents.

Atrial septostomy is performed in patients with severe pulmonary arterial hypertension, and has been shown to improve symptoms, quality of life and survival. Despite recognized clinical benefits, the underlying pathophysiologic mechanisms are poorly understood. We aimed to assess the effects of right-to-left shunting on arterial delivery of oxygen, mixed venous content of oxygen, and systemic cardiac output in patients with pulmonary arterial hypertension and a fixed flow of blood to the lungs. We formulated equations defining the mandatory relationship between physiologic variables and delivery of oxygen in patients with right-to-left shunting. Using calculus and computer modelling, we considered the simultaneous effects of right-to-left shunting on physiologies with different pulmonary flows, total metabolic rates, and capacities for carrying oxygen. Our study indicates that, when the flow of blood to the lungs is fixed, increasing right-to-left shunting improves systemic cardiac output, arterial blood pressure, and arterial delivery of oxygen. In contrast, the mixed venous content of oxygen, which mirrors the average state of tissue oxygenation, remains unchanged. Our model suggests that increasing the volume of right-to-left shunting cannot compensate for right ventricular failure. Atrial septostomy in the setting of pulmonary arterial hypertension, therefore, increases the arterial delivery of oxygen, but the mixed systemic saturation of oxygen, arguably the most important index of tissue oxygenation, stays constant. Our data suggest that the clinically observed beneficial effects of atrial septostomy are the result of improved flow of blood rather than augmented tissue oxygenation, provided that right ventricular function is adequate.

Coarctation of the aorta is associated with increased risk for hypertension in adulthood, despite successful repair. The intrinsic mechanisms underscoring hypertension and left ventricular performance in these patients, however, remains to be determined. Our objective was to evaluate left ventricular performance by means of echocardiographic and biochemical parameters at midterm follow-up in normotensive children who have had undergone successful surgical or catheter interventional treatment of coarctation with a residual gradient of less than 20 mmHg at rest. We studied prospectively 14 patients with native aortic coarctation who underwent surgery or balloon angioplasty, the cohort made up of equal numbers of boys and girls, and having a mean age of 8.5 plus or minus 4 years. We also studied 30 age-matched healthy subjects, measuring mitral inflow pulsed wave signals, isovolumic relaxation and contraction times, myocardial performance index parameters, and levels of B-type natriuretic peptide and endothelin-1 in both groups. We found no differences in systolic blood pressure at rest between the patients and their controls. The ventricular septal diastolic dimensions, left ventricular posterior wall dimensions, mitral valve E wave, deceleration time, isovolumic relaxation time, isovolumic contraction time and myocardial performance index were all significantly increased in the patients. Levels of plasma B-type natriuretic peptide and endothelin-1 were also significantly higher in the patients when compared to the control group. We conclude that aortic coarctation is a chronic disease characterized by persistency of myocardial and vascular alterations. The elevated levels of plasma b-type natriuretic peptide and endothelin-1 may be indicative of late onset hypertension after successful treatment of native coarctation in early childhood.

Myocarditis is a well-recognized component of Kawasaki disease, with left ventricular dysfunction occurring in more than half of the patients during the acute phase of the disease. The purpose of our study was to evaluate myocardial function in these patients using the myocardial performance index, also known as the Tei index. In a prospective study, 14 patients underwent echocardiographic evaluation, first at the time of diagnosis of the disease, in its acute phase before treatment with intravenous immunoglobulin and then 2 weeks later after treatment with immunoglobulin. We assessed the Tei-index, the ejection fraction, shortening fraction, and the presence of valvar regurgitation, pericardial effusion, or coronary arterial involvement. As a control, we also assessed 22 healthy children, matched for age and sex with the study population. Of the patients, half had an increased left ventricular Tei-index in the acute phase, as compared with the data obtained after treatment, the index changing from 0.43 ± 0.08 to 0.35 ± 0.06 (p equal to 0.003). An increased index for the right ventricle was found in 5 patients (36%), values being 0.30 ± 0.05 as opposed to 0.26 ± 0.04 (p equal to 0.009). Of the patients, 5 (35.7%) also had decreased ejection fractions and proportional shortening fractions during the acute phase, confirming left ventricular dysfunction. We concluded that the Tei-index, which measures combined systolic and diastolic function, is a simple, sensitive, and accurate tool for estimating global myocardial dysfunction in patients with Kawasaki disease.

Abnormalities of the autonomic nervous system have been repeatedly shown in hypertension. We studied the associations between being overweight, blood pressure, cardiac vagal tone as measured by variability in heart rate, and well-being in a large cohort of young men. We hypothesised an inverse correlation between body mass index and the variability in heart rate. Further, we assessed systolic and diastolic blood pressure as traditional indicators of cardiovascular risk. Exclusion criteria were the use of drugs or pharmaceuticals. The following data from 786 men with a mean age of 19.4 years (standard deviation = 1.4, with a range from 16 to 24 years) were analysed in a cross-sectional study: body mass index, sleep duration, sporting activities, psychological well-being, blood pressure, heart rate, and variability in heart rate. Despite the young age of the men in this study, increased values for the body mass index were already associated with a shift in sympathovagal balance trending towards sympathetic dominance. There was also a significant positive correlation between body mass index and systolic and diastolic blood pressure. A multiple stepwise regression analysis showed that significant factors, which were associated with variability in heart rate, were body mass index and sporting activities. In addition, sporting activity and sleep duration had a significant positive impact on psychological well-being. Even in young men, being overweight is associated with increased cardiovascular risk, especially an increased sympathetic and/or lowered cardiovascular tone and increased blood pressure. Our study gives additional motivation for the early prevention and treatment of obesity in childhood and adolescence.

Rheumatic fever is a public health problem of universal distribution, predominantly affecting individuals in developing countries. In individuals less than 20 years of age, pure mitral regurgitation is the most commonly found condition in chronic rheumatic valve disease. In the present study, rheumatic mitral regurgitation was assessed in children and adolescents, addressing its clinical (duration of the disease, symptoms, use of benzathine penicillin, and number of outbreaks of the acute phase of rheumatic fever), electrocardiographic (left atrium abnormality and/or left ventricle hypertrophy) and echocardiographic characteristics (left atrium and ventricle measurements, ejection fraction and pulmonary artery pressure), as well as plasma dose of N-terminal portion of the brain natriuretic peptide through electrochemiluminescence immunoassay. Fifty-three patients were studied. The patients had moderate (41.5%) or severe (58.5%) rheumatic mitral regurgitation; had not undergone surgery; were not in the acute phase of the disease; and were being treated at a paediatric cardiology reference hospital in Northeastern Brazil. Mean patient age was 10.6 years (minimum of 3 and maximum of 19 years). With the exception of the ejection fraction, the echocardiographic variables had a significant correlation to the natriuretic peptide, demonstrating that this hormone reflects the haemodynamic consequences of mitral regurgitation. It was concluded that cardiac remodelling that occurs in rheumatic mitral regurgitation in children and adolescents leads to the production of the brain natriuretic peptide, which could be used as a complementary diagnostic tool in the follow-up of such patients.

This is a case of a young woman previously completely healthy, with two uneventful pregnancies and deliveries, who presented with bloating, shortness of breath, and signs of right heart failure. A thorough clinical evaluation, along with a work-up including an echocardiogram and a magnetic resonance imaging revealed the diagnosis of Ebstein’s anomaly malformation with tricuspid stenosis. A right ventricular outflow tract obstruction due to thrombus formation was thought to exacerbate her symptoms and lead to the diagnosis. Surgery in the form of right ventricular thrombectomy, right atrial reduction, porcine tricuspid valve replacement and bidirectional cavopulmonary anastomosis “bidirectional Glenn”, was successfully performed. The patient has been stable clinically more than one year after surgery. Discussion about this rare condition and operative details are provided.

We describe a neonate who presented with an echogenic mass in the right atrium 8 weeks after closure of ventricular and atrial septal defects. On a routine post operative check up after discharge, a mass was detected in the right atrium on echocardiography. As a thrombotic formation was suggested, lysis was started, in combination with the administration of unfractioned heparin. As there was no change in echogenicity or size of the mass, it was surgically excised. Histopathological examination revealed a myofibroblastic inflammatory tumour.

We describe an infant of 8 months who presented with left ventricular dilation due to an extensive intralobar sequestration of the right lung. The pulmonary sequestration was associated with a patent arterial duct and a right aortic arch. Percutaneous closure of the anomalous aberrant artery feeding the sequestrated lung resulted in prompt regression of the left ventricular enlargement.

We describe 5 adults with tetralogy of Fallot and pulmonary atresia who developed lung abscesses, including some infected with atypical microbial pathogens, with important morbidity. We hypothesize that patients with such anatomy are at risk for chronic pulmonary infection due to hypo-perfusion of the pulmonary parenchyma. This previously unreported clinical association should be considered in the differential diagnosis of patients with tetralogy of Fallot and pulmonary atresia who alter their respiratory state.

Loeys-Dietz syndrome is a newly recognized constellation that presents with aortic aneurysm or dissection similar to Marfan’s syndrome. We describe successful surgical treatment in a 2-year-old with the syndrome in whom we performed a valve-sparing replacement of the aortic root because of significant dilation of the aortic root and the ascending aorta.

A one-month-old boy, with type-II mucolipidosis, presented with congestive heart failure and elevated cardiac enzymes. The atretic nature of the orifice of the left coronary artery was revealed by retrograde flow on color Doppler and selective coronary angiography. Type-II mucolipidosis and atresia of the left coronary artery are rare. To the best of our knowledge, this is the first report of their combined occurence, suggesting a possible causal relationship.

We report our experience in a 12 year old boy referred with suspected myocardial infarction. He has previously been diagnosed with systemic lupus erythematosus, and was being treated with steroids. Echocardiographic examination revealed a thrombus in the left aortic coronary sinus of Valsalva partially occluding the orifice of the left coronary artery. The thrombosis was successfully treated by venous thrombolysis using recombinant tissue plasminogen activator.