Developing technology affords children with complex congenitally malformed hearts a chance for survival. Parents gratefully pursue life-saving options on behalf of their children, despite the risks to the life of their child, and uncertainty about outcomes. Little is known about how mothers and fathers experience parenting a child whose new state as a survivor may include less than optimal developmental sequels.

Our study involved multiple interactive interviews with 9 mothers and 7 fathers of infants and preschool children with hypoplastic left heart syndrome who had survived the Norwood surgical approach. Qualitative methodology included grounded theory methods of simultaneous collection and analysis of data, and we used open and selective coding of transcribed interviews.

Parents used normalization in the context of uncertainty regarding the ongoing survival of their child. Parents described their underweight children as being on their own growth curve, and viewed their developmental progress, however delayed, as reason for celebration, as they had been prepared for their child to die.

There is growing evidence that children with congenitally malformed hearts who require surgical intervention during the first year of life may experience developmental delay. The use of normalization by their parents may be effective in decreasing their worry regarding the uncertain future faced by their child, but may negatively affect the developmental progress of the child if they do not seek resources to assist development. Advice from paediatric specialists for parents to view their children as normal needs to be balanced with assistance for parents to access services to support optimal growth and development of their child.

To provide an account of paediatric dilated cardiomyopathy as seen in a region of Oman, analysing the data from 32 consecutive children who received care in our unit between January, 1999, and August, 2007.

The patients, of whom 17 were male, were aged between 5 weeks and 8 years at presentation, with a median of 7 months. The disease was deemed to be myocarditis-induced in one-third, and idiopathic in half. Cardiac failure, seen in almost four-fifths, was the most frequent presenting feature. Correspondingly, the cardiothoracic ratios were increased, to a mean of 68% in 20 infants, and to 65% in 8 older children, and the left ventricular ejection fraction depressed, to a mean of 41%, in the 23 patients in whom it could be evaluated. Patients in cardiac failure received various combinations of diuretics, inotropes, and captopril. In addition, 6 received carvedilol, and 3 intravenous immunoglobulin. Death occurred in 2 patients shortly after admission, one left the hospital against medical advice, and the remaining 29 were followed-up for a mean of 37 months, with a range from 2 to 102 months. Recovery was noted in one-third of the patients, with one-quarter showing improvement but still requiring anti-failure medications. Slightly over two-fifths died. Of those with the idiopathic form, 40% died, with death occurring in 46% of those deemed to have myocarditis-induced disease, in half of those presenting in infancy, and in 57% of those who presented in cardiac failure.

Dilated cardiomyopathy was often severe in our patients, albeit that the cause was frequently uncertain, and the response to standard anti-failure treatment unsatisfactory. Efforts should be intensified for unravelling its aetiology and improving medical treatment.

Children who undergo surgery for complex congenital cardiac disease are reported to be at increased thrombotic risk. Our aim was to evaluate long-term changes in the haemostatic system after surgery, to compare markers of activated coagulation in children having surgery with those in a healthy control population, and to relate them to adverse clinical outcome.

We studied, prior to surgery, the coagulation profiles of a cohort of 28 children admitted for a modified Fontan operation, studying them again after a period of mean follow-up of 9.6 years. Median age at the time of final surgery was 18.5 months, with a range from 12 to 76 months. We compared generation of thrombin, and levels of the activated protein C-protein C inhibitor complex to controls at follow-up. Thrombophilia and clinical outcome were evaluated.

At long-term follow-up, a lower incidence of procoagulant abnormalities was observed compared to that before surgery. Of 27 patients, 3 (11%), but none of 45 controls, had levels of activated protein C-protein C inhibitor complex above the reference range. There were no significant differences in generation of thrombin between patients and controls. No thrombotic events were recorded, and the patients were generally in good clinical condition.

Overall, haemostasis appeared to be in balance, and less prothrombotic, after surgery. A subset of the cohort did show indications of activated coagulation. The current therapeutic approach seems to be sufficient to protect the majority of patient. New tests of global coagulation, nonetheless, may be helpful in improving identification of individuals at increased thrombotic risk.

To analyze cardiac involvement and its progression in mucopolysaccharidoses, and to assess the short term impact of new therapeutic strategies.

We studied echocardiographically 57 patients with various types of mucopolysaccharidoses, specifically types I, II, III, IV and VI, with a median age at the diagnosis of cardiac involvement of 5 years, following them for a median of 4.6 years, with a range from 0.9 to 21.2 years. We used a scoring system, along with the so-called delta score, to quantify the severity of involvement at baseline and at last examination, and to chart their progression over time.

Cases with cardiac involvement increased from 59.6% to 87.3% at the last examination. The scores increased with age, and were significantly different according to the specific type of mucopolysaccharidosis. Involvement of the mitral valve was most common, often associated with an aortic valvar anomaly and/or left ventricular hypertrophy. Patients with the first and second types had more severe involvement than those with the third or fourth types. Patients undergoing transplantation of haematopoietic stem cells seem to stabilize after an initial worsening while, in contrast, we were unable to demonstrate an effect of enzyme replacement therapy on the progression of the cardiac disease, possibly because those receiving such treatment had a higher median age, more severe cardiac disease and shorter follow-up.

Cardiac involvement was present early in more than a half of the patients identified as having mucopolysaccharidosis, and generally progressed, being more frequent and severe in the first and second types of the disease. Longer follow-up is needed to demonstrate any significant improvement induced by new therapies.

22q11.2 microdeletion is the most common microdeletion in the global population. Congenital cardiac disease is the most frequently observed feature of this syndrome. The prognosis of patients with 22q11.2 copy number aberrations varies from those without 22q11.2 deletion or duplication.

We enrolled 241 patients from Nanjing Drum Tower Hospital and Nanjing Sick Children’s Hospital, 227 being scheduled for cardiac surgery, and 14 cases being fetuses aged from 24 to 36 gestational weeks. We performed karyotypic analysis and multiplex ligation-dependent probe amplification in all cases.

Karyotypic analysis demonstrated 3 cases with trisomy 21, and 1 case with mosaic trisomy 8 [47,XY,+8/46,XY(1:2)]. Multiplex ligation-dependent probe amplification analysis revealed 10 cases (4.15%) with changes in the number of copies within the region of 22q11.2, of which 7 cases were hemizygous interstitial microdeletion from CLTCL1 to LZTR1, 1 case with deletion of the region from CLTCL1 to PCQAP, and 2 cases with 22q11.2 duplication, one of which spanned from ZNF74 to LZTR1, and simultaneously showed trisomy 21 by karyotyping analysis, and the other spanned from HIC2 to TOP3B. The phenotypes of the cardiac lesions included 3 cases of ventricular septal defect, 3 of tetralogy of Fallot, 2 of combined ventricular and atrial septal defects, and 2 with pulmonary arterial stenosis.

Patients with congenitally malformed hearts who are scheduled for cardiac surgery, as well as fetuses with congenital cardiac disease, should routinely undergo karyotypic analysis and examination for 22q11.2 aberrations. Multiplex ligation-dependent probe amplification has been proven to be a cost-effective diagnostic technique for 22q11 deletion syndrome.

To define the patterns of flow of blood to the lungs in fetuses with tetralogy of Fallot and pulmonary atresia.

In this condition, supply of blood to the lungs is provided via an arterial duct or systemic-to-pulmonary collateral arteries, or very rarely through other conduits such as coronary arterial fistulas or an aortopulmonary window. The intrapericardial pulmonary arteries vary in size, and may be absent. These variables influence the prognosis and management.

We carried out a retrospective review of cases from a tertiary service for fetal cardiology, identifying all cases of tetralogy of Fallot with pulmonary atresia diagnosed antenatally between January, 1997, and April, 2006. We established pre- and postnatal outcomes, and compared the prenatal diagnosis with postnatal or autopsy findings.

Of 6587 fetuses scanned during this period, 11 were diagnosed as having tetralogy of Fallot with pulmonary atresia and no other cardiac defect. In 5, arterial flow to the lungs was via an arterial duct, and in the other 6, the main identified source of flow was systemic-to-pulmonary collateral arteries. Of the latter 6 pregnancies, 4 were terminated, along with 3 of the 5 with ductal supply. The presence of systemic-to-pulmonary collateral arteries was confirmed at postmortem examination in 3 instances, and in the two delivered neonates, in neither of whom was an infusion of prostaglandin commenced.

The patterns of pulmonary flow can be identified prenatally in the setting of tetralogy with pulmonary atresia. Supply through systemic-to-pulmonary collateral arteries impacts on counselling, introducing uncertainty regarding postnatal surgical management.

To assess the outcomes in children and adolescents with rheumatic fever of the implantation of mechanical as opposed to biological heart valves.

We assessed 73 patients with rheumatic heart disease under the age of 18 years, who underwent replacement of heart valves between January, 1996, and December, 2005, at the National Institute of Cardiology in Rio de Janeiro, Brazil. Of the group, 71 patients survived, and were divided into a group of 52 receiving mechanical prostheses, and 19 with biological prostheses. We compared endpoints between the groups in terms of mortality, reoperation, haemorrhage, and stroke. Survival curves were estimated using the Kaplan-Meier method and were compared by the Mantel (log-rank) test.

Overall mortality was 8.2%. In those receiving mechanical prostheses, 2 (3.8%) patients died, 5 (9.6%) underwent reoperation, 2 (3.8%) suffered severe haemorrhage, and 3 (5.8%) had strokes. In those receiving biological valves, 2 (10.5%) patients died, and 4 (21%) underwent reoperation. After 2, 4, and 8 years, overall survival was 96%, 93% and 86%, respectively, with a borderline difference between the groups (p = 0.06). The probabilities of remaining free from reoperation (p = 0.13), and from combined endpoints, showed no statistically significant difference between the groups (p = 0.28).

Patients with mechanical prostheses had lower mortality and required fewer reoperations, but when all combined endpoints were considered, the groups did not differ. The biological prosthesis proved to be a good option for cardiac surgery in children and adolescents with difficulties or risks of anticoagulation.

The aim of our study was to investigate the effects of endogenous melatonin on arterial distensibility using measurements of the velocity of the aortic pulse wave between the carotid and femoral arteries in healthy young students assessed in the supine position.

We studied 29 healthy young students, aged between 18 and 27 years, with 19 being male. The measured the velocity of the aortic pulse wave between the carotid and femoral arteries, along the blood pressures and heart rate, while the subjects were in the supine position at two time points, namely from 01.30–02.30 and 13:30–14:30 hours, during a day, also taking plasma to measure the concentrations of melatonin. The velocity of the pulse waves was determined using an automatic device, the Complior Colson (France), which allowed on-line recording and automatic calculation of the velocity, the calculations being made by measuring the transit time of the pulse wave as it traversed the distance between two sites of recording according, the velocity of the pulse wave in meter per second being equal to the distance in meters divided by the time of transit in seconds.

Although the velocity of the pulse wave, systolic, diastolic, and mean blood pressures, and heart rate were all increased in the morning relative to measurement made later in the day, levels of melatonin in the plasma were increased in the night. There was negative correlation between diurnal levels of melatonin and the velocity of the pulse wave.

Our findings indicate that increased levels of melatonin during the night may cause a decreased velocity of the aortic pulse wave, along with blood pressures and heart rate.