Pediatric vascular ring outcomes for surgically repaired unoperated children: a single-center experience.

Background: Vascular rings represent 1% of congenital cardiovascular abnormalities. Phenotypic expression varies from asymptomatic to severe forms related to either oesophageal or tracheal compression. While refinement in prenatal screening led to an increase in fetal diagnosis, optimal management in asymptomatic neonates and infants is currently a matter of debate.

Assessment of left ventricular dyssynchrony by speckle tracking echocardiography in children with duchenne muscular dystrophy.

Prognosis of Duchenne muscular dystrophy (DMD) is related to cardiac dysfunction. Two dimensional-speckle tracking echocardiography (2D-STE) has recently emerged as a non-invasive functional biomarker for early detection of DMD-related cardiomyopathy. This study aimed to determine, in DMD children, the existence of left ventricle (LV) dyssynchrony using 2D-STE analysis.

Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature.

Although the prognosis of CHARGE syndrome can be highly variable from mild until severe, final diagnosis is difficult to establish in utero. The aim of our study is to compare antenatal and postnatal findings in a retrospective cohort of 10 successive patients with a positive CHD7 gene variant in order to identify the specific prenatal features for CHARGE syndrome diagnosis. Fetal ultrasound, follow-up and supplementary investigations are collected and compared to postnatal findings.

Quality of life assessment in children before and after a successful ablation for supraventricular tachycardia.

Background And Objectives: Young patients suffering from rhythm disorders have a negative impact in their quality of life. In recent years, ablation has become the first-line therapy for supraventricular arrhythmias in children. In the light of the current expertise and advancement in the field, we decided to evaluate the quality of life in young patients with supraventricular arrhythmias before and after a percutaneous ablation procedure.

"Idiopathic" pulmonary arterial hypertension in early infancy: Excluding NFU1 deficiency.

NFU1 deficiency is a rare metabolic disorder affecting iron-sulfur cluster synthesis, an essential pathway for lipoic acid-dependent enzymatic activities and mitochondrial respiratory chain complexes. It is a little-known cause of pulmonary arterial hypertension (PAH), while PAH is a prominent feature of the disease. We herein report on a female infant diagnosed as having idiopathic PAH since 1 month of age, who did not respond to bosentan plus sildenafil.

Liver and systemic hemodynamics in children with cirrhosis: Impact on the surgical management in pediatric living donor liver transplantation.

Cirrhosis in adults is associated with modifications of systemic and liver hemodynamics, whereas little is known about the pediatric population. The aim of this work was to investigate whether alterations of hepatic and systemic hemodynamics were correlated with cirrhosis severity in children. The impact of hemodynamic findings on surgical management in pediatric living donor liver transplantation (LT) was evaluated.

Prenatal diagnosis of isolated total anomalous systemic venous connection to the left atrium.

We report the prenatal diagnosis and the neonatal follow-up of a patient with isolated total abnormal systemic venous connection to the left atrium. Right-sided and left-sided superior caval veins and the inferior caval vein were all connected to the left atrium. Pulmonary venous return was normal.

Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.

Acyl-CoA dehydrogenase 9 (ACAD9) is a mitochondrial protein involved in oxidative phosphorylation complex I biogenesis. This protein also exhibits acyl-CoA dehydrogenase (ACAD) activity. ACAD9-mutated patients have been reported to suffer from primarily heart, muscle, liver, and nervous system disorders.

The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.

To determine the diagnostic value of massive parallel sequencing of a panel of known cardiac genes in familial nonsyndromic congenital heart defects (CHD), targeted sequencing of the coding regions of 57 genes previously implicated in CHD was performed in 36 patients from 13 nonsyndromic CHD families with probable autosomal dominant inheritance. Following variant analysis and Sanger validation, we identified six potential disease causing variants in three genes (MYH6, NOTCH1, and TBX5), which may explain the defects in six families. Several problematic situations were encountered when performing genotype-phenotype correlations in the families to confirm the causality of these variants.

Long-Term Results of Balloon Valvuloplasty as Primary Treatment for Congenital Aortic Valve Stenosis: a 20-Year Review.

In the presence of new surgical techniques, the treatment of congenital valvular aortic stenosis is under debate. We reviewed the results and late outcomes of all 93 patients aged 1 day to 18 years, treated with balloon valvuloplasty (BAV) as first-line therapy for congenital aortic valve stenosis in our center from January 1991 to May 2012. Mean age at procedure time was 2.

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members.

Twin-to-twin transfusion syndrome: perinatal outcome and recipient heart disease according to treatment strategy.

Aim: The aims of the study were to compare perinatal outcome and assess recipient cardiac disease according to treatment strategy (amnioreduction (AR), laser or selective feticide).

Methods: We retrospectively reviewed 81 consecutive cases of twin-to-twin transfusion syndrome diagnosed before 28 weeks between 1993 and 2007.

Results: Although fetuses treated by laser were younger at diagnosis (median 20.

Chemotherapy during pregnancy: effect of anthracyclines on fetal and maternal cardiac function.

Chemotherapy and especially anthracyclines are associated to cardiotoxicity. To assess this potential risk during pregnancy a clinical case-control trial was conducted. Maternal cardiac function, fetal Doppler and fetal cardiac function were evaluated before and after chemotherapy.

Prenatal diagnosis of abnormal cardinal systemic venous return without other heart defects: a case series.

Objectives: To describe fetal spectrum and echocardiographic characteristics of anomalous systemic venous return (ASVR, cardinal veins) without other structural heart defects (isolated ASVR), evaluate associated extracardiac and genetic anomalies and review neonatal outcome.

Methods: From 2003 to 2009, 369 consecutive fetuses were diagnosed with cardiac malformation, including 27 cases with an isolated ASVR. The following variables were collected: type of ASVR, extracardiac anomalies, karyotype and short-term outcome.

Considerations for prenatal counselling of patients with cardiac rhabdomyomas based on their cardiac and neurologic outcomes.

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.

Huge left ventricular aneurysm in a minimally symptomatic 11-year-old boy.

An 11-year-old boy presented with mild shortness of breath and tachycardia and was diagnosed with a huge left ventricular aneurysm ruptured in a secondary pseudoaneurysm. This report highlights the complementary use of echocardiography and cardiac magnetic resonance imaging in the preoperative assessment of this anomaly.

Right ventricular outflow tract reconstruction with contegra monocuspid transannular patch in tetralogy of Fallot.

Background: Pediatric diminutive right ventricular outflow tract (RVOT) reconstruction with homografts or porcine xenografts remains challenging because of limited availability, early degeneration, tissue ingrowth, and child growth. The objective of this study was to assess whether Contegra valved bovine conduit, implanted as monocuspid transannular patch, might be an interesting alternative to overcome these problems.

Methods: We reconstructed the RVOT of 12 patients with tetralogy of Fallot, by the use of a Contegra conduit, tailored as a monocuspid valved transannular patch.

The impact of patch augmentation on left atrioventricular valve dynamics in patients with atrioventricular septal defects: early and midterm follow-up.

Objective: Left atrioventricular valve pericardial patch may prevent valve replacement. We assessed patch annular dynamics compared with conventional repair and normal annuli.

Methods: Transesophageal 3-dimensional echocardiography was acquired preoperatively and postoperatively in atrioventricular septal defects (n = 10, 5 patch, 5 conventional repair).

Impact of selective laser ablation of placental anastomoses on the cardiovascular pathology of the recipient twin in severe twin-twin transfusion syndrome.

Objectives: We investigated the impact of selective laser ablation on the cardiovascular pathology of the recipient twin in twin-twin transfusion syndrome.

Study Design: Fetal echocardiograms and medical records were reviewed from 22 pregnancies with severe twin-twin transfusion syndrome where echocardiography was performed before and after laser.

Results: Before laser, cardiomegaly associated with right and/or left ventricular hypertrophy without ventricular dilatation, was observed in most cases.

Improved perceived health status persists three months after a special sports camp for children with congenital heart disease.

Introduction: Although summer and sports camps for children with congenital heart disease are organized in many countries and regions, empirical data on the effects of such camps is limited.

Objectives: The aim of the present study was to investigate changes in the perceived health status and habitual physical activities in children attending a special sports camp.

Materials And Methods: In this longitudinal study, 25 children with congenital heart disease who participated in a three-day multi-sports camp were included.

Three-dimensional echocardiography improves the understanding of left atrioventricular valve morphology and function in atrioventricular septal defects undergoing patch augmentation.

Objectives: We sought to address the role of 3-dimensional echocardiography in the evaluation of the left atrioventricular valve in children with an atrioventricular septal defect who underwent patch augmentation of their valve for either regurgitation or left ventricular outflow tract obstruction.

Methods: Five children whose ages ranged between 4.5 and 9.

Prenatal cardiovascular manifestations in the twin-to-twin transfusion syndrome recipients and the impact of therapeutic amnioreduction.

Objective: We evaluated the cardiovascular pathologic condition in the recipient twin in twin-to-twin transfusion syndrome and the influence of amnioreduction.

Study Design: Fetal echocardiograms and medical records of 54 pregnancies that were complicated by twin-to-twin transfusion syndrome were reviewed. Recipient twin right and left ventricular wall thickness, diameters, systolic and diastolic function, valve regurgitation, and structural cardiac defects were assessed at examination and after amnioreduction.