Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.

Secundum-type atrial septal defects (ASDII) account for approximately 10% of all congenital heart defects (CHD) and are associated with a familial risk. Mutations in transcription factors represent a genetic source for ASDII. Yet, little is known about the role of mutations in sarcomeric genes in ASDII etiology.

Efficiency of transcatheter closure of atrial septal defects in small and symptomatic children.

Objectives: We report the multicentric French experience with transcatheter closure in children weighing 15 kilograms or less, with the aim of assessing the efficacy of the procedure in this age group.

Patients: We included all children weighing 15 kilograms or less, and seen between January, 1997, and June, 2004, who had successful transcatheter closure of an interatrial communication within the oval fossa.

Results: Transcatheter closure was performed in 35 patients weighing 15 kilograms or less, of whom 14 were male and 21 female.

Transcatheter closure of patent foramen ovale in patients with platypnea-orthodeoxia: results of a multicentric French registry.

Background: Dyspnea and the decrease in arterial saturation in the upright position in elderly subjects is described as platypnea-orthodeoxia syndrome (POS). POS is secondary to the occurrence of an atrial right-to-left shunt through a patent foramen ovale (PFO).

Methods: This French multicentric study reports on 78 patients (mean age 67 +/- 11.

A third case of cardiac neoplasm in a fetus with Beckwith-Wiedemann syndrome: epicardial angiofibroma.

Objective: A personal observation of a 20-week-old fetus with Beckwith-Wiedemann syndrome (BWS) presenting epicardial angiofibroma prompted us to evaluate cardiac neoplasms in this genetic condition.

Method: We performed an autopsy and a histological evaluation of the fetus, and searched the literature for cardiac anomalies in BWS.

Results: Although cardiac tumors are exceptional and although BWS is rare, we found two other cardiac neoplasms in infants with BWS, whereas no more than one was expected.

Pallister-Killian syndrome: difficulties of prenatal diagnosis.

The first prenatal diagnosis of Pallister-Killian syndrome (PKS) was reported by Gilgenkrantz et al. in1985. Since this report, about 60 prenatal cases have been reported but both sonographic and cytogenetic diagnoses remain difficult.

Evaluation and evolution during time of prenatal diagnosis of congenital heart diseases by routine fetal ultrasonographic examination.

The objectives of this study were to evaluate routine prenatal diagnosis of congenital heart diseases (CHD) by fetal ultrasound examination in a well-defined population during the period 1994-1999 and to compare these results with the results from 1979 to 1993. This study included 80,076 consecutive pregnancies of known outcome from 1994 to 1999. CHD were classified as isolated or associated when at least one other major extra-cardiac malformation was present.

A European multicentric experience using the CardioSEal and Starflex double umbrella devices to close interatrial communications holes within the oval fossa.

In this review, we describe the experience from 13 European centres using the CardioSEAL and Starflex double umbrella devices to close interatrial communications within the oval fossa (so-called 'secundum' defects). Between October 1996 and April 1999, the procedure was attempted in 334 patients with a mean age of 12 years and a mean weight of 44kg. The mean measured stretched diameter of the defect was 15 mm.

[Fetal supraventricular tachycardia associated with anasarca: poor prognosis despite treatment. Apropos of two cases].

Two cases of foetal supraventricular tachycardia with hydrops with fatal outcomes illustrate the poor general prognosis of this condition. The absence of therapeutic consensus, of large series in the existing literature, does not prevent logical and reasonable management based on rhythmological, pharmacological and prognostic criteria. A combined approach associating antiarrhythmic therapy by the transplacental and intrafunicular approaches seems acceptable now that funicular puncture can be undertaken easily, and certain antiarrhythmic molecules suggest encouraging results.

Evaluation of prenatal diagnosis of congenital heart disease.

Prenatal diagnosis performed by fetal ultrasound scan is now a routine part of antenatal care in many countries. That an increasing number of fetal anomalies may be detected on prenatal ultrasound is beyond doubt. What is possible is not, however, always practical, especially where congenital heart diseases (CHDs) are concerned and when whole antenatal populations are screened rather than high risk groups.

Surgical treatment of aortic root aneurysm related to Marfan syndrome in early childhood.

The prognosis of Marfan syndrome in both adult and pediatric patients is primarily related to the cardiovascular complications. In infantile Marfan syndrome, although involvement of the mitral valve is the most frequently encountered cardiovascular lesion, the aortic root can be more worrisome because of its excessive dilatation, leading to aortic insufficiency or dissection. If the role of elective surgery is relatively well defined for adult patients, it is still debated during childhood.

Transaortic approach in double-outlet right ventricle with subaortic ventricular septal defect.

The standard approach (right ventriculotomy and atriotomy) for surgical repair of double-outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis may not give an adequate view of the intracardiac defect due-to the presence of anomalous coronary artery anatomy or unusual cavity spacial relationship. Thus, a transverse aortotomy was performed and the left ventricular outflow tract was well visualized through the aortic valve and could be reconstructed precisely. Therefore, the transaortic approach also should be considered for systemic route reconstruction in this group.

[Percutaneous valvotomy of aortic valve stenoses in children].

A retrospective cooperative study of percutaneous aortic valvuloplasty was undertaken in 12 French centres from 1985 and included 90 children over 3 months of age (average 8.5 +/- 5.2 years) treated for isolated aortic valve stenosis with peak transvalvular pressure gradients of 80.

Mediastinal stabilization by an expansion prosthesis in postoperative congenital diaphragmatic hernia with severe pulmonary hypoplasia.

The authors illustrate a case of right neonatal congenital diaphragmatic hernia (CDH) of Bochdalek with major pulmonary hypoplasia and postoperative massive mediastinal displacement to the right, leading to tracheal compression and recurrent respiratory distress at every attempt to wean the infant from the ventilator. Mediastinal stabilization was obtained by placing an expansion prosthesis (of the cutaneous type) in the right hemithorax, to prevent mediastinal obstruction of the main airways. This procedure may prove to be an original and efficient solution for the critical postoperative respiratory obstruction due to severe pulmonary hypoplasia and mediastinal mass effect in the newborn with CDH.

Evaluation of prenatal diagnosis of congenital heart disease.

Prenatal diagnosis performed by fetal ultrasound scan is now a routine part of antenatal care in many countries. That an increasing number of fetal anomalies may be detected on prenatal ultrasound is beyond doubt. What is possible is not, however, always practical, especially when congenital heart diseases (CHDs) are concerned and when whole antenatal populations are screened rather than high-risk groups.

[Severe hemolysis after endoluminal closure of the ductus arteriosus and recovery following implantation of a second obturator].

A few hours after closure of a large patent ductus arteriosus by the endoluminal approach in a 28 month old infant, severe hemolysis occurred due to incomplete closure; cure was obtained by the implantation of a second obturator by the femoral vein. Definitive complete occlusion of the ductus was followed by immediate disappearance of the hemolysis.

[Cardiac rhabdomyoma and apoptosis: are regression controlled by the body?].

Three rhabdomyomas detected in utero regressed after birth. These personal observations and others in medical literature show that regressions are more frequent than it was formerly believed, and are almost always observed during the first two years of life. The same clinical features of these involutions, histological appearances of apoptosis (programmed cell death), and the absence of inflammation suggest that spontaneous regressions may be controlled by the body.

[Double profile dialysis: ultrafiltration and sodium variable description and clinical validation in the child].

Despite significant technical improvements (bicarbonate dialysate, volumetric ultrafiltration control) high intradialytic ultrafiltration is troublesome in children, specially in the proportion of patients presenting a normal or low blood pressure even with overweight. We used, in this group of children (overhydratated without vascular repercution) a modelling of both sodium and ultrafiltration during dialysis, in order to achieve dry body weight without increasing session time despite hypotension risks. The usefulness and practicability of sodium and ultrafiltration modelling together during dialysis in children is analysed in a short time study (for plasma volume changes calculation) and in a long term follow up study over a year (for clinical tolerance).

Risk factors in congenital heart disease.

Risk factors were studied in 801 children with congenital heart disease (CHD) coming from 105,374 consecutive births of known outcome. The incidence of CHD was 7.60%.

[Palliative percutaneous pulmonary valvuloplasty in neonatal forms of tetralogy of Fallot].

Percutaneous pulmonary valvuloplasty was performed successfully in two neonates with cyanotic tetralogy of Fallot. It seems that balloon valvotomy may represent a palliative therapeutic alternative of choice in the neonatal period.

[Digital subtraction angiography in pediatrics].

In spite of the prominent position reached by echocardiography in the anatomical and functional diagnosis of congenital heart disease, angiography remains the reference method for preoperative assessment of most cardiovascular malformations. Digitalization of angiographic images, recently applied to cardiology, is of particular interest in paediatrics: the versatility of the method, the smaller amount and dilution of the contrast medium, the diminution of catheter size and the shorter exposure to X-rays are factors that reduce the risk of this invasive investigation. The experience acquired by the exploration of 500 congenital heart disease shows that there is no technical obstacle to using this method in paediatric cardiology, especially since the images obtained clearly are of better quality.

Anomalous left coronary artery from the pulmonary artery in infants. Which operation? When?

The surgical management of anomalous left coronary artery from the pulmonary artery in infants and small children remains controversial, because the ideal surgical procedure and the optimal time for operation are yet to be determined. From 1977 to 1985, 22 patients less than 4 years of age (mean age 18.2 months) underwent direct aortic reimplantation of the anomalous left coronary artery.