Congenital tricuspid regurgitation is an extremely rare condition. The morphologic heterogeneity makes it difficult to derive any conclusions regarding the best strategy for management of this condition.

We analysed the published literature on “congenital tricuspid regurgitation” using MEDLINE. In addition, the reference sections of all relevant articles were searched to identify additional cases. Studies published till June 2009 are included.

As far as we could establish, there were 123 cases of congenital tricuspid regurgitation. Of these, 63 were documented during surgery, 38 during autopsy, and 22 were diagnosed by echocardiography or cardiac catheterisation. The mean age was 22.57 years, with a standard deviation of 23.42 years, and the age ranged from 1 day to 80 years, with a median of 16 years. There was a male predominance, with a male-to-female ratio of approximately 3:2.

Congenital tricuspid regurgitation is an uncommon clinical entity with wide anatomical variations. The severity of disease dictates the presentation in infancy, childhood, or adulthood. Tricuspid valve repair is the ideal treatment whenever feasible, especially in children. We propose a new classification for congenital tricuspid regurgitation, which not only includes the anatomical variations, but can also help the surgeon in deciding on the best strategy for management.

The purpose of this study was to assess the pattern of weight change from surgical intervention to home discharge and to determine predictors of poor growth in this population of infants with congenital cardiac disease.

Neonates with functionally univentricular physiology enrolled in a prospective cohort study examining growth between March, 2003 and May, 2007 were included. Weights were collected at birth, before surgical intervention, and at hospital discharge. In addition, retrospective echocardiographic data and data about post-operative complications were reviewed. Primary outcome variables were weight-for-age z-score at discharge and change in weight-for-age z-score between surgery and discharge.

A total of 61 infants met the inclusion criteria. The mean change in weight-for-age z-score between surgery and hospital discharge was minus 1.5 plus or minus 0.8. Bivariate analysis revealed a significant difference in weight-for-age z-score between infants who were discharged on oral feeds, minus 1.1 plus or minus 0.8 compared to infants with feeding device support minus 1.7 plus or minus 0.7, p-value equal to 0.01. Lower weight-for-age z-score at birth, presence of moderate or greater atrioventricular valve regurgitation, post-operative ventilation time, and placement of an additional central venous line were associated with 60% of the variance in weight-for-age z-score change.

Neonates undergoing staged surgical repair for univentricular physiology are at significant risk for growth failure between surgery and hospital discharge. Haemodynamically significant atrioventricular valve regurgitation and a complex post-operative course were risk factors for poor post-operative weight gain. Feeding device support appears to be insufficient to ensure adequate weight gain during post-operative hospitalisation.

Ellis – van Creveld syndrome is an autosomal recessive disorder manifest by short-limb dwarfism, thoracic dystrophy, postaxial polydactyly, dysplastic nails and teeth, and an approximately 60% incidence of congenital malformations of the heart. Despite patients with Ellis – van Creveld syndrome being regarded as having a high surgical risk, few data are available regarding their outcomes following surgery for congenital malformations of the heart in the current era.

In this retrospective report, we summarise the clinical observations and outcomes of nine infants with Ellis – van Creveld syndrome who underwent surgery for congenital malformations of the heart between 2004 and 2009.

We identified 15 patients with Ellis – van Creveld syndrome during the study period; 11 (73%) had haemodynamically significant congenital malformations of the heart warranting surgery. In two of these patients, surgery was not performed. Of the nine patients who underwent surgery, all of whom were infants, eight (89%) had various forms of an atrioventricular septal defect and one patient (11%) had hypoplastic left heart syndrome (mitral and aortic atresia). Among the nine patients who underwent surgery, four (44%) died at a median of 102 days with a range of 25–149 days post-operatively, mostly from respiratory failure. Respiratory morbidity was seen in all surviving patients, of whom three underwent tracheostomy.

Surgery for congenital malformations of the heart can be successful in infants with Ellis – van Creveld syndrome, but mortality is high and post-operative respiratory morbidity should be expected.

In developing countries, congenital heart disease is often unrecognised, leading to serious morbidity and mortality. Guatemala is one of the few developing countries where expert paediatric cardiac treatment is available and affordable, and therefore early detection could significantly improve outcome. We assessed regional congenital heart disease detection rates in Guatemala, and determined whether they correlated with the regional human development index.

We retrospectively reviewed all new cardiac referrals made in 2006 to the Unidad de Cirugia Cardiovascular Pediatrica, the only paediatric cardiac centre in Guatemala. We calculated regional detection rates by comparing the number of congenital heart disease referrals with the expected incidence using the National Ministry of Health birth data. We then compared the regional detection rates with the human development index data published in the United Nations 2006 Development Program Report using Spearman’s rank correlation.

An estimated 3935 infants with cardiac defects were born in Guatemala in 2006, an expected 1380 (35%) of whom had severe forms. Overall, only 533 children (14%) with cardiac defects were referred. Of these, 62% had simple shunt lesions, 13% had cyanotic lesions, and 10% had left-sided obstructive lesions. Only 11.5% of referred patients were neonates. Regional detection rates, ranged 3.2–34%, correlated with the regional human development index (r = 0.75, p < 0.0001).

Current detection of congenital heart disease in Guatemala is low and correlates with the regional human development index. Those detected are older and have less severe forms, suggesting a high mortality rate among Guatemalan neonates with complex cardiac defects.

Intra-cardiac repair of congenital cardiac diseases in children with left–right shunt is often associated with acute elevation of pulmonary artery pressure following cardiopulmonary bypass. We studied the correlation between the Glu298Asp polymorphism of the endothelial nitric oxide synthase gene and pulmonary hypertension in children with congenital cardiac diseases.

A total of 80 children with congenital cardiac diseases at a median age of 3.8 years, ranged 0.1–36.2 years, and 136 controls were enrolled. Most patients presented with significant left-to-right shunt – pulmonary-to-systemic blood flow of 2.8, with a range from 0.6 to 7.5. In all, 40 out of 80 children showed pulmonary hypertension with mean pressure of 42, ranged 26–82, millimetres of mercury. Thirty-one out of 40 children underwent intra-cardiac repair and 15 out of 31 operated patients were found to have an acute elevation of pulmonary artery pressure after cardiopulmonary bypass. The Glu298Asp polymorphism was identified using polymerase chain reaction and restriction fragment length polymorphism. Both in patients and in controls, the genotype distribution corresponded to the Hardy–Weinberg equilibrium. The gene frequency for Glu298Glu, Glu298Asp and Asp298Asp was not different in the control group compared to the patients (Armitage trend test: p = 0.37). The endothelial nitric oxide synthase polymorphism was related to acute post-operative elevation of pulmonary artery pressure (genotypic frequency 53.3 versus 25%; Armitage trend test: p = 0.038). In addition, the allelic frequency of the Glu298Asp was related to post-operative pulmonary hypertension (Fischer’s exact test: p = 0.048). The positive predictive value was 71.43%.

Patients with left-to-right shunt are more likely to develop acute elevation of pulmonary artery pressure after cardiopulmonary bypass when presenting with the Glu298Asp polymorphism of the gene endothelial nitric oxide synthase. This could be used as a genetic marker for the predisposition for the development of pulmonary hypertension after intra-cardiac repair.

Although magnetic resonance imaging is a primary modality for following patients with connective tissue diseases, only a limited amount of the image data is utilised. The purpose of this study was to show the clinical applicability of an automated four-dimensional analysis method of magnetic resonance images of the aorta and develop normative data for the cross-sectional area of the entire thoracic aorta.

Magnetic resonance imaging was obtained serially over 3 years from 32 healthy individuals and 24 patients with aortopathy and a personal or family history of connective tissue disorder. Graph theory-based segmentation was used to determine the cross-sectional area for the thoracic aorta. Healthy individual data were used to construct a nomogram representing the maximum cross-sectional area 5th–95th percentile along the entire thoracic aorta. Aortic root diameters calculated from the cross-sectional area were compared to measured diameters from echocardiographic data. The cross-sectional area of the entire thoracic aorta in patients was compared to healthy individuals.

Calculated aortic root diameters correlated with measured diameters from echo data – correlation coefficient was 0.74–0.87. The cross-sectional area in patients was significantly greater in the aortic root, ascending aorta, and descending aorta compared to healthy individuals.

The presentation of the dimensional data for the entire thoracic aorta shows an important clinical tool for following patients with connective tissue disorders and aortopathy.

A variety of devices are available for transcatheter closure of unwanted shunts. We describe our experience with the use of the Amplatzer vascular plug IV in a consecutive series of infants.

A total of eight consecutive infants – all born preterm at gestational ages ranging from 24 to 35 weeks – undergoing transcatheter closure of unwanted shunts – persistently patent arterial duct in five patients, an aorta to right atrium fistula in one, multiple aortopulmonary collateral vessels in one, and an azygos vein to left atrium connection in one – are described. Their age, from birth, ranged between 3 and 11 months, and weight between 2.6 and 11.3 kilograms. All devices were delivered using percutaneous arterial or venous vascular access via a large lumen (0.038 inch) 4-French delivery catheter.

All lesions could be successfully occluded using one or more devices. Device diameters ranged between 4 and 8 millimetres, and exceeded the minimum diameter of the target vessel by 1 to 2 millimetres. Successful occlusion was confirmed either directly at angiography or on follow-up echocardiography. Of the infants who were mechanically ventilated prior to the procedure, three could be successfully weaned following closure of the shunt. There were no procedure-related complications.

The new vascular plug IV is cheap and efficacious in closing a variety of shunts in young infants, and warrants further extended clinical application.

To determine the frequency and factors associated with increase in microembolic signals during transcatheter closure of atrial septal defect using the Amplatzer septal occluder.

During the procedure in 16 patients, we measured microembolic signals using transcranial Doppler. Procedure time was divided into five periods: right cardiac catheterisation; left cardiac catheterisation; left cardiac angiocardiography; sizing and long sheath placement; device placement and release. We compared numbers of microembolic signals among the five periods and identified factors associated with them.

Mean size of septal occluder was 16 millimetres in diameter. Total number of microembolic signals was a median of 31.5, ranging from 3 to 113. Microembolic signals in three periods, left cardiac catheterisation; sizing, and long sheath placement; and device placement and release, were not significantly different from one another, but were significantly higher than those in the remaining two periods, right cardiac catheterisation and left cardiac angiocardiography (median was 9 in left cardiac catheterisation; 6 in sizing and long sheath placement; 6.5 in device placement and release, versus 0 in right cardiac catheterisation and 1 in left cardiac angiocardiography, p less than 0.05, respectively). Importantly, the time for device manipulation positively correlated with total number of microembolic signals (r equals 0.77, p less than 0.001), although fluoroscopic time, age, or size of septal occluder did not.

Transcatheter closure of atrial septal defect using the Amplatzer septal occluder produces microemboli, especially during device placement. To minimise the risk of systemic embolism, we must decrease the time for device manipulation.

We hypothesised that sildenafil would improve hemodynamics in children with pulmonary hypertension and attenuate rebound pulmonary hypertension after inhaled nitric oxide withdrawal.

We undertook an open-label, single-drug study of sildenafil in patients under 5 years of age with either symptomatic or rebound pulmonary hypertension following inhaled nitric oxide withdrawal.

We recruited 25 patients (median age 180 days, 10–1790) to receive sildenafil. The median right ventricular to systemic systolic blood pressure ratio before sildenafil therapy was 1.0 (0.5–1.4) and decreased to 0.5 (with a range from 0.3 to 1.3; p = 0.0002). In five patients the baseline pulmonary vascular resistance index was 10 (7.1–13.6) Wood units metre square and decreased to 5.8 (2.7–15.6) Wood units metre square (p = 0.04) at 6 months. Ten patients were treated with sildenafil for a median of 34 days (9–499) until resolution of pulmonary artery hypertension and continue to do well. Six patients continued sildenafil therapy for a median of 1002 days (384–1574) with improvement but without resolution of pulmonary hypertension. There was no change in serum creatinine, urea, liver function tests, or platelet count. In 15 patients sildenafil abolished rebound pulmonary artery hypertension following withdrawal of inhaled nitric oxide. Median right ventricular pressure to systemic systolic pressure ratio decreased from 1.0 (0.8–1.4) during nitric oxide withdrawal to 0.4 (0.3–0.8) p = 0.006 after pre-treatment with sildenafil.

In children under 5 years of age with severe pulmonary hypertension, sildenafil therapy resulted in prolonged hemodynamic improvements without adverse effects. Sildenafil attenuated rebound pulmonary hypertension after withdrawal of inhaled nitric oxide.

Congenital heart defect patients may experience neurodevelopmental impairment. We investigated their educational attainments from basic schooling to higher education.

Using administrative databases, we identified all Danish patients with a cardiac defect diagnosis born from 1 January, 1977 to 1 January, 1991 and alive at age 13 years. As a comparison cohort, we randomly sampled 10 persons per patient. We obtained information on educational attainment from Denmark's Database for Labour Market Research. The study population was followed until achievement of educational levels, death, emigration, or 1 January, 2006. We estimated the hazard ratio of attaining given educational levels, conditional on completing preceding levels, using discrete-time Cox regression and adjusting for socio-economic factors. Analyses were repeated for a sub-cohort of patients and controls born at term and without extracardiac defects or chromosomal anomalies.

We identified 2986 patients. Their probability of completing compulsory basic schooling was approximately 10% lower than that of control individuals (adjusted hazard ratio = 0.79, ranged from 0.75 to 0.82 0.79; 95% confidence interval: 0.75–0.82). Their subsequent probability of completing secondary school was lower than that of the controls, both for all patients (adjusted hazard ratio = 0.74; 95% confidence interval: 0.69–0.80) and for the sub-cohort (adjusted hazard ratio = 0.80; 95% confidence interval: 0.73–0.86). The probability of attaining a higher degree, conditional on completion of youth education, was affected both for all patients (adjusted hazard ratio = 0.88; 95% confidence interval: 0.76–1.01) and for the sub-cohort (adjusted hazard ratio = 0.92; 95% confidence interval: 0.79–1.07).

The probability of educational attainment was reduced among long-term congenital heart defect survivors.

The aim of this study is to evaluate our clinical experience using an Amplatzer septal occluder for catheter closure of a secundum atrial septal defect under transthoracic echocardiography guidance without general anaesthesia.

Patients eligible for transcatheter atrial septal defect closure were selected using transthoracic echocardiography. The largest defect diameter measured in different views was selected as the reference diameter. All procedures were performed under conscious sedation with fluoroscopic and transthoracic echocardiographic guidance.

Between November, 2006 and December, 2009 a secundum-type atrial septal defect was closed with the Amplatzer septal occluder in 40 patients with transthoracic echocardiographic guidance. The mean age and weight were 7.9 years and 26.9 kilograms, respectively. The mean atrial septal defect diameter was 11.4 millimetres, total septal diameter was 38.5 millimetres, and the mean device diameter and the difference between device and atrial septal defect diameter were 12.6 and 1.2 millimetres, respectively. There were no major complications. The mean follow-up time was 14.8 months.

In selected cases, in which the defects are small and the rims are adequate and transthoracic echocardiography provides high image quality, transthoracic echocardiography can be substituted with transoesophageal echocardiography. The ratio of defect size to total septal diameter can be used as a guide for patient selection; those that have a value of 0.33 or greater can be considered eligible for closure with transthoracic echocardiography. However, transthoracic echocardiography should not be used when there are large or multiple defects, or the rims are thin and soft and the image resolution is inadequate.

The objective was to clarify the outcomes of cardiac surgery in trisomy 18 patients.

We analysed 34 consecutive trisomy 18 patients, of whom 21 were males, with cardiac complications. They were divided into patients who underwent cardiac surgery and those who were conservatively treated. We compared rates of survival and discharge alive between two groups.

The surgery group included nine patients, with six males, who underwent cardiac surgery – intracardiac repair in three patients, pulmonary arterial banding in five patients, and ligation of the ductus in one patient – at median age of 2.2 months, ranging from 0.5 to 9.8, and with median weight of 2.6 kilograms, ranging from 1.5 to 3.2. Cardiac surgery and pre-operative assisted ventilation were hazardous factors leading to death. In the surgery group, cumulative survival rates at 1 month, 6 months, 12 months, and 24 months were 63%, 38%, 25%, and 22%, respectively, compared with 51%, 26%, 9%, and 9% in the conservative group. There was a significant difference (p = 0.002). The cumulative rates of discharge alive at 1 month, 3 months, and 6 months were 0%, 12%, and 65% in the surgery group, which did not differ from the conservative group (p = 0.80).

Cardiac surgery contributed to increased survival rate but not the rate of discharge alive in trisomy 18 patients. Cardiac surgery could not prevent all the trisomy 18 patients from death. The indication of cardiac surgery should be carefully individualised to improve the quality of life in trisomy 18 patients and concerned surrounding people.