Advances in medical and surgical care have contributed to an important increase in the survival rates of children with congenital heart disease. However, survivors often have decreased exercise capacity and health-related issues that affect their quality of life. Cardiac Rehabilitation Programmes have been extensively studied in adults with acquired heart disease. In contrast, studies of children with congenital heart disease have been few and of limited scope. We therefore undertook a systematic review of the literature on cardiac rehabilitation in children with congenital heart disease to systematically assess the current evidence regarding the use, efficacy, benefits, and risks associated with this therapy and to identify the components of a successful programme.

We included studies that incorporated a cardiac rehabilitation programme with an exercise training component published between January, 1981 and November, 2010 in patients under 18 years of age.

A total of 16 clinical studies were found and were the focus of this review. Heterogeneous methodology and variable quality was observed. Aerobic and resistance training was the core component of most studies. Diverse variables were used to quantify outcomes. No adverse events were reported.

Cardiac Rehabilitation Programmes in the paediatric population are greatly underutilised, and clinical research on this promising form of therapy has been limited. Questions remain regarding the optimal structure and efficacy of the programmes. The complex needs of this unique population also mandate that additional outcome measures, beyond serial cardiopulmonary exercise testing, be identified and studied.

To investigate the effect of pulsatility of venous flow waveform in the inferior and superior caval vessels on the performance of functional and “failing” Fontan patients based on two primary performance measures – the conduit power loss and the distribution of inferior caval flow (hepatic factors) to the lungs.

Doppler angiography flows were acquired from two typical extra-cardiac conduit “failing” Fontan patients, aged 13 and 25 years, with ventricle dysfunction. Using computational fluid dynamics, haemodynamic efficiencies of “failing”, functional, and in vitro-generated mechanically assisted venous flow waveforms were evaluated inside an idealised total cavopulmonary connection with a caval offset. To investigate the effect of venous pulsatility alone, cardiac output was normalised to 3 litres per minute in all cases. To quantify the pulsatile behaviour of venous flows, two new performance indices were suggested.

Variations in the pulsatile content of venous waveforms altered the conduit efficiency notably. High-frequency and low-amplitude oscillations lowered the pulsatile component of the power losses in “failing” Fontan flow waveforms. Owing to the offset geometry, hepatic flow distribution depended strongly on the ratio of time-dependent caval flows and the pulsatility content rather than mixing at the junction. “Failing” Fontan flow waveforms exhibited less balanced hepatic flow distribution to lungs.

The haemodynamic efficiency of single-ventricle circulation depends strongly on the pulsatility of venous flow waveforms. The proposed performance indices can be calculated easily in the clinical setting in efforts to better quantify the energy efficiency of Fontan venous waveforms in pulsatile settings.

To present the long-term follow-up of children hospitalised for severe rheumatic carditis who were treated with corticosteroids.

This is a retrospective analysis of the outcome of 242 patients with severe rheumatic carditis after discharge from two public hospitals in Niteroi, Brazil. We followed up 118 patients for 4 years or more, with an average of 7.7 years. They were treated with antibiotics to accomplish bacterial eradication and either intravenous methylprednisolone – 40 cases – or oral prednisone – 78 patients – to treat carditis. They were followed up in outpatient clinic.

Cardiac failure was categorised as classes III and IV according to the New York Heart Association classification. In the intravenous corticosteroid group, 21 cases (52.5%) had isolated mitral valve regurgitation, 12 (30%) had mitral plus aortic involvement, and seven (17.5%) had aortic lesion only. In the oral prednisone group, 45 (58%) had mitral valve regurgitation only, 27 (34%) had mitral plus aortic involvement, and six (8%) had aortic lesion only. A total of 28 children were in their first disease attack, of whom 19 (68%) had a rupture of chordae tendineae. A total of 58 patients (49%) sustained recurrence of carditis because of neglected secondary prophylaxis. In all, 19 cases (16%) underwent cardiac surgery – valve replacement or valvuloplasty. In 33% of the cases, the outcome was favourable – asymptomatic at follow-up. The overall mortality rate was 6.8%.

Many critically ill patients who complied with secondary prophylaxis were left with minor injuries, whereas those who neglected it or abandoned it had serious sequelae. The rate of abandonment and loss to follow-up was very high. Many cases (49%) were re-hospitalised because of carditis recurrence.

This study was carried out to define the anatomical criteria for the diagnosis of inferior-type caval vein defect and compare the echocardiographic findings with surgical findings.

The records of 19 patients – 13 male and six female patients in the age group of 18 months to 27 years, who were diagnosed as inferior-type caval vein defect with or without anomalous drainage of right pulmonary vein(s) on echocardiography – were retrospectively reviewed and compared with surgical findings.

Surgical diagnosis of inferior-type caval vein defect was confirmed in 17 of the 19 patients. In two patients, the surgical diagnosis was that of a large fossa ovalis atrial septal defect – confluent defect and fossa ovalis atrial septal defect with deficient inferior rim in one patient each. Surgical diagnosis of anomalous drainage of pulmonary vein(s) was based on the course of the superior rim of the defect in relation to the pulmonary veins. Our echocardiographic impression of the pulmonary veins appearing in its normal position but showing abnormal drainage to right atrium was in agreement with the surgical notes. Discrepancy was found in the number of pulmonary veins draining anomalously. The discordance was related to overdiagnosis of anomalous drainage in all except one, that is, three out of four. In one, only the right lower pulmonary vein was diagnosed to be anomalous, whereas both right upper and lower pulmonary veins were found to be anomalous.

Echocardiography provides definite diagnosis of inferior-type caval vein defect. Inferior caval vein straddling and an intact fossa ovalis are prerequisites for diagnosis. Anomalous pulmonary venous drainage of the right pulmonary veins is very common in our series, although accurate diagnosis of the number of pulmonary veins was not possible in all cases. Multiple views on transthoracic echocardiography starting from the subxiphoid views delineate the morphology accurately. Transoesophageal echocardiography is required only in patients in whom the windows, especially the subxiphoid, are not adequate.

Acute rheumatic fever is a systemic inflammatory disease occurring after acute streptococcal tonsillopharyngitis. The PR prolongation in these patients is thought to be due to increased vagal activity. There has been no previous study investigating the autonomic balance in patients with acute rheumatic fever. In this study, we aimed to investigate the balance of the autonomic nervous system in children with acute rheumatic fever by analysis of heart rate variability.

We evaluated the heart rate variability parameters in 50 patients with acute rheumatic fever and 37 comparable control subjects. Both groups underwent 24-hour electrocardiography monitoring, and time- and frequency-domain heart rate variability parameters were calculated. A total of 39 patients (78%), with (n = 28) or without (n = 11) other major findings, had carditis, and the remaining 11 (22%) did not. The PR interval was found to be prolonged in 10 (20%) of the patients at the beginning.

In the study group, the time- and frequency-domain heart rate variability parameters showed a sympathetic dominance compared with the control group, with a p-value less than 0.05. When compared with the control group, the time- and frequency-domain heart rate variability parameters showed a significant sympathetic dominance in patients with both prolonged PR and normal PR intervals in the acute period, with a p-value less than 0.05. When compared with patients with normal PR interval, mean normalised low frequency and normalised high frequency parameters suggested a relatively lower sympathetic dominance in patients with prolonged PR interval, with a p-value less than 0.05.

Our results indicated that in the acute period of rheumatic fever, sympathetic dominance is apparent; in patients with prolonged PR interval, sympathetic dominance is relatively lower when compared with the patients with normal PR interval.

The aim of our study was to establish the prevalence and the prognostic value of haematological abnormalities in children with cardiac failure.

A series of 218 consecutive children with a first diagnosis of idiopathic dilated cardiomyopathy were retrospectively examined. Haematological evaluation was performed at first diagnosis. Death or cardiac transplantation was the main outcome measure.

The median age was 0.6 years, ranging from 1 day to 15.8 years and median follow-up was 2.65 years, ranging from 0 to 17.2 years. After a median interval of 0.2 years, ranging from 0 to 8.7 years, 56 patients died and 25 were transplanted. Event-free survival at 1 and 5 years was 68% (95% confidence interval, 63–75%) and 62% (95% confidence interval, 56–69%). Blood levels of haemoglobin less than 10 grams per decilitre, urea over 8 millimoles per litre, and C-reactive protein over 10 milligrams per litre were found in 24%, 20%, and 24% of patients, respectively. The log-rank test showed that haemoglobin (p = 0.000) and C-reactive protein (p = 0.021) were predictors of death or transplantation. In the multivariate Cox model, haemoglobin (hazard ratio = 0.735; confidence interval = 0.636–0.849; p = 0.000) and urea (hazard ratio = 1.083; confidence interval = 1:002–1:171; p = 0.045) were predictive of poor outcome. Cubic spline functions showed that the positive role of haemoglobin on survival was linear for values less than 12 grams per decilitre and null for values more than 12 grams per decilitre. Adaptive index models for risk stratification and Classification and Regression Tree analysis allowed to identify the cut-off values for haemoglobin (less than 10.2 grams per decilitre) and urea (more than 8.8 millimoles per litre), as well as to derive a predictor model.

In children with idiopathic dilated cardiomyopathy, anaemia is the strongest independent prognostic factor of early death or transplantation.

To identify risk factors for loss to cardiology follow-up among children and young adults with congenital heart disease.

We used a matched case-control design. Cases were born before January, 2001 with moderate or complex congenital heart disease and were previously followed up in the paediatric or adult cardiology clinic, but not seen for 3 years or longer. Controls had been seen within 3 years. Controls were matched 3:1 to cases by year of birth and congenital heart disease lesion. Medical records were reviewed for potential risk factors for loss to follow-up. A subset of cases and controls participated in recorded telephone interviews.

A total of 74 cases (66% male) were compared with 222 controls (61% male). A history of missed cardiology appointments was predictive of loss to follow-up for 3 years or longer (odds ratio 13.0, 95% confidence interval 3.3–51.7). Variables protective from loss to follow-up were higher family income (odds ratio 0.87 per $10,000 increase, 0.77–0.98), cardiac catheterisation within 5 years (odds ratio 0.2, 95% confidence interval 0.1–0.6), and chart documentation of the need for cardiology follow-up (odds ratio 0.4, 95% confidence interval 0.2–0.8). Cases lacked awareness of the importance of follow-up and identified primary care physicians as their primary source of information about the heart, rather than cardiologists. Unlike cases, controls had methods to remember appointments.

A history of one or more missed cardiology appointments predicted loss to follow-up for 3 or more years, as did lack of awareness of the need for follow-up. Higher family income, recent catheterisations, and medical record documentation of the need for follow-up were protective.

In our recent study, we first reported that mutation in vascular endothelial growth factor-A is associated with bicuspid aortic valve stenosis. However, to date no groups have explored the role of vascular endothelial growth factor-A variations in the aetiology of congenital tricuspid aortic valve stenosis.

We sequenced all eight coding exons and exon–intron boundaries of the vascular endothelial growth factor-A gene in deoxyribonucleic acid samples of a cohort of 32 sporadic patients with tricuspid aortic valve stenosis, 300 normal controls, and 103 disease controls – conotruncal defects – in order to identify sequence variants.

We identified a c.973C > T heterozygous nonsense variation in exon 6 of the vascular endothelial growth factor-A gene in a patient with an isolated tricuspid aortic valve stenosis. The c.973C > T variation, which was absent in all controls, changes a highly conserved arginine at amino acid position 325 to a stop codon (p.Arg325X) and is predicted to produce a truncated protein of 324 amino acid residues. The proband's parents had a normal cardiac phenotype; however, his father was a carrier of the p.Arg325X variation, which indicates that the p.Arg325X variation is inherited and incompletely penetrant.

We report for the first time that the p.Arg325X nonsense variation in the vascular endothelial growth factor-A gene may be associated with congenital tricuspid aortic valve stenosis.

To describe the evolution of ventricular septal defects in infants from intra-uterine diagnosis to the age of 3 years or until documented echocardiographic closure of the defect, as well as any relationship between closure rate, time and foetal echocardiographic features.

Between January, 2004 and December, 2006, 268 cases of congenital cardiac defect were detected in 14,993 pregnancies referred to our hospital for routine foetal echocardiography; of these cases, 125 had isolated ventricular septal defect. The mothers were scheduled for regular ultrasonography every 2 weeks from diagnosis until the ventricular septal defect closed or 3 years postnatally.

Of the 125 cases of ventricular septal defects, the pregnancy was terminated in 25, four resulted in death, two defects closed spontaneously in utero, 55 closed at a mean age of 13.7 months postnatally, 17 were treated with surgery, nine remained unclosed, and 13 cases were lost to follow-up. Only 7.7% of muscular ventricular septal defects remained patent as compared with 35.7% of perimembranous ventricular septal defects (p is less than 0.01). Muscular ventricular septal defects closed earlier than perimembranous ventricular septal defects. All the ventricular septal defects less than or equal to 3 millimetres closed, whereas only 79.5% of the defects greater than 3 millimetres closed before the age of 3 years; 60.9% of the defects less than or equal to 3 millimetres closed before the age of 1 year as compared with 41.7% of the defects greater than 3 millimetres. The velocity of right-to-left flow was negatively correlated with closure rate but not related to closure period.

Ventricular septal defects can close in utero or during the postnatal period, and both the size and site play a role in the natural history, with small and muscular ventricular septal defects having a high closure rate and early closure.

Treatment of patent foramen ovale in young patients with stroke is not supported by robust scientific evidence. In clinical practice, a pragmatic approach is needed to guide such therapeutic decisions. This study aims at standardising the diagnostic pathway for stroke patients younger than 55 years of age with a patent foramen ovale; elaborating a therapeutic algorithm; discussing every case in regular interdisciplinary counselling meeting; and setting up a follow-up schedule to assess clinical outcomes.

This is a cohort study on the effect of a standardised treatment of stroke patients with a patent foramen ovale. The primary endpoints include occurrence of recurrent ischaemic events, major bleeding, and device-related complications. The secondary endpoints include drug- or procedure-related side effects, persistence of right-to-left shunt, and persistent cardiac arrhythmia of new onset.

A total of 103 patients have been enrolled. In all, 51 patients underwent percutaneous atrial septal repair; of these, one had minor post-procedural bleeding. At 12 months, 25% of this group of patients showed a latent I grade shunt, one patient a latent II degree shunt, and none had a persistent shunt. The remaining 52 patients were addressed to medical therapy; one of them experienced stroke recurrences while on medical therapy.

This model of implementation of available evidence to clinical practice via a group-based, multi-disciplinary counselling provides a shared and coherent decision pathway and yielded a very low rate of recurrent events and therapy-related complications. This approach could be replicated in specific protocols for other complex or neglected clinical problems.

The aim of this study was to investigate the importance of myocardial performance index as an additive criterion to Sarnat criteria in differential diagnosis of newborn babies with moderate and severe hypoxic–ischaemic encephalopathy.

Our study group included 50 healthy term newborn babies and 20 newborn babies with hypoxic–ischaemic encephalopathy. The 20 newborn babies with hypoxic–ischaemic encephalopathy were scored using Sarnat grades. Left and right ventricular functions were determined on the first day and thereafter in the 1, 3–4, 6–7, and 11–12 months of life by M-Mode and pulsed Doppler.

Myocardial performance indexes of the left ventricle were significantly higher in the severe hypoxic–ischaemic encephalopathy group than in the control group during the first, second, and third analyses (p = 0.01, p = 0.02, p = 0.02, respectively) and only during the first analysis (p = 0.01) in the moderate hypoxic–ischaemic encephalopathy group. In addition, the myocardial performance indexes of the right ventricle were significantly higher during the first, second, and third analyses in both severe and moderate hypoxic–ischaemic encephalopathy groups than in the control group (p = 0.01, all). Hypoxia-induced alterations last longer in the right ventricle than in the left ventricle in the moderate group, as during the second and third analyses myocardial performance index continues to be higher than the control group.

Myocardial performance indexes for the left and right ventricles were significantly higher in both severe and moderate hypoxic–ischaemic encephalopathy groups than in the control group during the first analysis, and myocardial performance index greater than or equal to 0.5 can be used in order to distinguish moderate and severe hypoxic–ischaemic encephalopathy babies according to Sarnat grades as a discriminative additive criterion.