Objectives: To compare surgical as opposed to percutaneous interventional closure of isolated atrial septal defects in the oval fossa in terms of hospital stay, efficacy, and complications, and to study the respective role of the two techniques in current practice. Methods: Between January 1998 and April 2004, 126 out of 1210 patients treated at our institution for closure of an isolated defect in the oval fossa were aged less than 6 years. The mean age of these 126 patients at procedure was 4.2 plus or minus 1 year. The ratio of females to males was 74 to 52. Results: Of the patients, 62% were treated successfully using a percutaneous approach. The groups treated surgically or percutaneously did not differ for age, gender, or indications for treatment. No deaths occurred. The rates of total and major complications were higher in the group undergoing surgical closure, at 34% versus 9%, p less than 0.0001, and 10.5% versus 1%, p equal to 0.01, respectively. Embolisation of the device requiring subsequent surgery occurred in 1% of patients. The stay in hospital was shorter in those closed percutaneously, at 3.2 plus or minus 0.9 days versus 6.8 plus or minus 2.8 days, p equal to 0.0001. During a mean follow-up of 3.4 plus or minus 1.9 years, no major complications occurred in either group, and symptoms improved significantly in both groups. Additional sequels occurred in 2 patients who had major complications subsequent to surgical closure. Conclusions: Even in young children, it is both feasible and safe to close defects in the oval fossa percutaneously. Compared to surgical closure, the transcatheter approach allows a shorter stay in hospital, and has a lower rate of complications. Early and mid-term follow-up has confirmed the safety and efficacy of both techniques.

Aim: Our aim was to perform a comparative, quantitative and qualitative, analysis of valvar echocardiographic findings in patients with acute rheumatic fever, with or without clinical manifestations of carditis, as compared to healthy controls. Methods and results: We analyzed cross-sectional Doppler echocardiographic images of 31 patients with acute rheumatic fever diagnosed according to the Jones criterions as modified in 1992. Of 31 patients, 22 presented with clinical carditis, while 9 had subclinical carditis. The patients, and a control group of 20 healthy individuals, underwent cardiac examination and echocardiographic assessment, assessing quantitative and qualitative findings of mitral and aortic valvar abnormalities. The leaflets of the mitral valve were statistically thicker in those with clinical and subclinical carditis when compared to controls (p less than 0.001). We observed a greater frequency of mitral variance, convergence of mitral flow, and aortic regurgitation for those with clinical and subclinical carditis when compared to controls (p less than 0.001, p less than 0.001 and p equal to 0.003, respectively). Patients with clinical and subclinical carditis had more quantitative and qualitative changes in the parameters than did the controls. Conclusion: Echocardiography is a sensitive method to detect valvar abnormalities in patients with acute rheumatic fever and carditis. Additionally, by using regular standardized criterions, abnormalities that lead to a diagnosis of subclinical carditis are found in those patients with acute rheumatic fever in the apparent absence of cardiac involvement.

Objective: The frequency of residual shunting or recanalization was investigated in patients in whom a persistently patent arterial duct had been doubly ligated and transfixed during surgical closure. Methods: We investigated in retrospective fashion for any residual shunting 325 patients who, between January 1990 and December 2004, had undergone surgical double ligation and transfixion of a persistently patent arterial duct. Shunting was discovered in 10 patients, of whom four male and six female. Results: Of those with residual shunting. 4 patients had initially exhibited only persistent patency of the duct, while the other 6 had associated mild cardiac lesions. The mean age at operation was 5.5 years, with a range from 0.5 to 17.9 years. Postoperatively, the mean period for detecting the residual shunt was 22.8 months, with a range from 2 days to 72 months. The frequency of residual shunting amongst our patients, therefore, was 3.1%. We detected the residual shunt by colour-flow Doppler mapping in all patients, although a continuous murmur was heard in only one patient on physical examination. Conclusion: Our findings suggest that clinical sensitivity of detecting residual shunting subsequent to surgical closure of the persistently patent arterial duct is low, and hence that colour-flow Doppler interrogation should be a part of follow up. Residual shunting, or recanalization, may occur even after double ligation and transfixion of the duct. Since the residual flow may emerge after months, or even years, follow-up is needed for longer periods.

We report the results of follow-up of the complete cohort of Norwegian children born in the period from 1987 through 1998 in whom there was the intention to treat surgically hypoplasia of the left heart using the Norwood sequence of operations. Of the 54 children, 21 are alive. Of these, 15 have been extensively studied, while the medical state of all the remaining survivors is known from reports from other hospitals. Of the survivors, the majority have reasonably acceptable cardiac and haemodynamic function, but significant neurological and neuropsychological morbidity is identified within the group as a whole, which requires special attention from qualified personnel of various kinds.

Little is known about the implications of left ventricular noncompaction in children with additional congenital cardiac malformations. With this in mind, we conducted a retrospective review of every left ventricular angiogram performed in a single tertiary referral centre for paediatric cardiology, in Melbourne, Australia, between 1994 and 2000 in children with congenital heart disease, looking specifically for patients with angiographic evidence of noncompaction of the left ventricle. The outcome of patients identified as having noncompaction was compared with that of patients from the same population, stratified by their primary congenital cardiac malformation.

Of 1515 children undergoing left ventricular angiography, 31, with 13 being male, were found to have angiographic evidence of left ventricular noncompaction, giving a prevalence of 2% (95% CI: 1.3%–2.8%). Of 69 (22%) children with a functionally single left ventricle, 15 fulfilled the criterions for noncompaction, compared to 16 of 1446 (1.1%) children with a balanced ventricular arrangement (p is less than 0.0001). The presence of noncompaction and a functionally single left ventricle were each associated with a doubling of mortality, the effect being cumulative. Of surviving patients with left ventricular noncompaction, 19% (4%–34%) have left ventricular dysfunction at their latest follow-up. We suggest that the important late sequels of noncompaction justify careful scrutiny for this entity in children with congenital cardiac disease.

Objectives: To explore the long-term physical, educational, behavioural, and emotional outcome of patients undergoing surgical correction of congenital cardiac disease at school age, and to investigate the relation, if any, between the outcome and comorbidity, age and sex, and level of complexity of the cardiac surgery. Methods: Information was obtained concerning 101 patients who underwent open-heart surgery for correction of congenital cardiac malformations between 1992 and 2000 whilst aged from 6 to 16 years. The patients, and their parents, completed the questionnaire “Outcome of congenital heart disease and surgery”, the RAND 36-Item Health Survey, and the Child Behaviour Checklist/Youth Self-Report/Young Adult Self-Report. Results: Of the patients, 26% had comorbidity. Of those without comorbidity, 39% had frequent physical complaints, and 28% experienced limitations due to the cardiac disease. Nevertheless, the patients reported a good subjective state of health, and did not report any behavioural or emotional problems. Patients did show academic difficulties. They had received special education more frequently than their healthy peers, and many had needed to repeat a grade, or had received remedial teaching. Consequently, the educational level of patients was lower than that of their healthy peers. Patients with comorbidity, female patients, and patients who underwent complex surgery, seemed to be most at risk for physical, behavioural, and emotional problems. Conclusion: It is necessary to distinguish between physical state and its appraisal, and clinicians should be aware of this. Further research is needed to find out the cause and nature of the academic difficulties. Groups of patients at risk should be followed closely to enable early interventions.

Introduction: Pulmonary arterial hypertension, both primary and secondary, continues to pose a therapeutic problem. In this study, we evaluate the efficacy and safety of a low-dose of oral sildenafil in 10 patients with pulmonary arterial hypertension. Methods: We administered a single daily dose of 0.5 milligrams per kilogram of sildenafil for 3 months to 10 patients with pulmonary arterial hypertension. Their average age was 26.8 years. Diagnoses were primary pulmonary arterial hypertension in 3 patients, and secondary pulmonary arterial hypertension due to congenital cardiac disease in the remaining 7 patients. Outcome measures included the clinical state, the mean pulmonary arterial pressure, and the indexed pulmonary vascular resistance; the latter two assessed at the beginning and at the end of the treatment period by cardiac catheterization. We also analysed the cost of the treatment. Results: Oral treatment was well tolerated, and resulted in an improvement of the functional capacity in 9 of the 10 patients. Pulmonary arterial pressure decreased from 70 to 60 millimetres of mercury (p equal to 0.05), and indexed pulmonary vascular resistance decreased from 21.8 to 15.8 Wood units per square metre (p equal to 0.006). The mean cost per patient for 3 months on oral treatment with sildenafil was 120.99 American dollars. Conclusions: A low dose of 0.5 milligrams per kilogram per day of oral sildenafil, instead of 1 to 4 milligrams per kilogram per day, provided early clinical and haemodynamic improvements, and proved less expensive. Additional experience is now required to define more reliably the true long-term benefits of this therapy.

Patients with anomalous origin of the left coronary artery from the pulmonary trunk may present with paroxysmal angina on exertion, congestive heart failure, dyspnoea, syncope or sudden death. The association of such anomalous origin of the left coronary artery from the pulmonary trunk with a hypertrophic left ventricle is extremely rare. In our cohort of patients with anomalous origin of the left coronary artery from the pulmonary trunk, two presented with a hypertrophic left ventricle. We discuss these cases, accompanied by a review of the English literature describing different morphological anomalies of the coronary arteries associated with left ventricular hypertrophy. Whether the hypertrophy is a result of the evolvement of the collateral coronary system, or due to an additional pathological gene for hypertrophic obstructive cardiomyopathy, remains an enigma. The hypertrophy may have served as a compensatory mechanism accounting for the atypical clinical presentation. We further discuss the possible factors associating the occurrence of anomalous origin of the left coronary artery from the pulmonary trunk and myohypertrophy, supported by the documentation of the regression of hypertrophy following surgical correction of the anomalous arterial origin as seen in our patients.

There exists a population of adults with undiagnosed coronary arterial lesions due to Kawasaki disease occurring before 1967. We report the clinical features in 6 adult males with coronary arterial lesions caused by presumed Kawasaki disease, whose dates of birth ranged from 1945 to 1963. The age of the diagnosed coronary arterial lesions due to presumed Kawasaki disease ranged from 26 to 48 years. In 4 patients, there was a history of probable Kawasaki disease. The presenting features were chest pain in 2; syncope in 1, an abnormal electrocardiogram in 2; a history of presumed Kawasaki disease in 1, and symptomatic myocardial infarction in the final patient. Coronary angiograms revealed multi-vessel disease in 5 patients, with segmental stenosis in 5, and calcified giant aneurysms in the proximal portion of the coronary arteries also in 5. Low left ventricular ejection fractions of less than 40% were found in 3. Of the patients, 3 had undergone coronary arterial bypass grafting. A defibrillator had been implanted in 2 because of rapid ventricular tachycardia with syncope induced during electrophysiologic studies. We conclude that, in patients with multi-vessel disease or left ventricular dysfunction caused by presumed Kawasaki disease, symptoms and serious cardiac events occur in adult life with the onset of ageing, although the patients had been asymptomatic for many years after the onset of Kawasaki disease itself.

Objective: To review, in retrospective fashion, the effect of preoperative mechanical ventilation on neonatal outcomes after cardiac surgery. Methods: We studied 114 newborns less than 15 days old admitted to the cardiac intensive care unit for cardiac surgery. Of the newborns, 71 (62%) were mechanically ventilated at the referring hospital before transport to our institution. Of the 71 ventilated patients, 14 were extubated and breathing spontaneously before cardiac surgery. We compared variable haemodynamics and outcomes between the 57 patients mechanically ventilated at time of cardiac surgery, and the 57 patients breathing spontaneously at this time. Results: Newborns mechanically ventilated before cardiac surgery had increased preoperative haemodynamic compromise, increased postoperative sepsis (p equal to 0.02) and mortality (p equal to 0.005) compared with those breathing spontaneously before cardiac surgery. Conclusion: Newborns requiring preoperative mechanical ventilation had greater risk of postoperative morbidity and mortality. Heightened vigilance is warranted in this population of patients at high risk.

Noonan's syndrome is an autosomal dominant genetic disease, in which mutation of the PTPN11 gene is found in from one-third to half of all cases. Pulmonary valvar stenosis and myocardiopathy are frequently associated cardiac malformations, whereas aortic valvar stenosis is rarely described. We report, as far as we know, the first case of familial Noonan syndrome with severe aortic valvar stenosis, demonstrating mutation of the PTPN11 gene in the father of the patient.

We report the first case of double-barrelled aorta associated with tetralogy of Fallot and pulmonary atresia, and we discuss the difficulties in the terminology of this fascinating anomaly.

We report a 23-year-old patient undergoing functionally univentricular repair who developed cardiac failure due primarily to systemic ventricular dysfunction. The failing Fontan circulation was successfully re-established using intra-aortic balloon counterpulsation. Aortic counterpulsation facilitates recovery of systemic ventricular function, and appears to be a reasonable alternative in select instances of cardiac failure in patients with the Fontan circulation.

Williams' syndrome is a rare condition that is associated with severe cardiovascular manifestations. We report a patient with Williams' syndrome who also has isolated obstruction of the right ventricular infundibulum, an association that, to the best of our knowledge, has not been previously reported.

Defects of the oval fossa usually occur as isolated malformations, but can show an autosomal dominant pedigree in familial cases. Several mutations have been described for the transcription factor NKX2-5, and co-segregate with varied cardiac anomalies. We have identified by sequence analysis a novel missense heterozygous mutation in the NKX2-5 gene, specifically a substitution of glutamine for proline at codon 160, in a Moroccan family, the affected members having a deficiency of the floor of the oval fossa and atrioventricular block.