Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.

CHARGE syndrome is an autosomal dominant inherited multiple malformation disorder typically characterized by coloboma, choanal atresia, hypoplastic semicircular canal, cranial nerve defects, cardiovascular malformations and ear abnormalities. Mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene are the major cause of CHARGE syndrome. Mutation analysis was performed in 18 patients with firm or tentative clinical diagnosis of CHARGE syndrome.

Excision of the coronary orifices in arterial switch operation: "O" like obstructive and "U" like unobstructive?

Background: Stenoses of the neo-pulmonary artery (NPA) may complicate follow-up of the arterial switch operation (ASO). It is unknown whether the type of patch covering the coronary excision defects ("O"- or "U"-shaped) might influence this complication.

Methods: Echocardiographically and invasively measured NPA pressure-gradients were evaluated retrospectively in 95 children after ASO.

A search for chromosome 22q11.2 deletions in a series of 176 consecutively catheterized patients with congenital heart disease: no evidence for deletions in non-syndromic patients.

Microdeletions in chromosome 22q11.2 are associated with DiGeorge syndrome (DGS), velo-cardio-facial syndrome (VCFS), and several other syndromes, collectively referred to as DG/VCF. Non-dysmorphic patients with cardiac defects have also been attributed to deletions in this chromosomal region.

Instantaneous pressure-flow velocity relations of systemic venous return in patients with univentricular circulation.

Objective: To assess the pressure and flow velocity relations and respiratory variability of the systemic venous and hepatic venous return in patients with univentricular circulation.

Patients: 15 selected patients who had undergone cavopulmonary anastomosis (10) or atriopulmonary anastomosis (5). Mean age at operation was 55.

Pulsed Doppler echocardiographic assessment of patterns of venous flow after the modified Fontan operation: potential clinical implications.

To assess the effect of a modified Fontan operation on systemic venous blood flow and the hepatic circulation, we compared 11 patients having an atriopulmonary connection and 35 with total cavopulmonary anastomosis. The Doppler echocardiographic study of the caval venous, hepatic venous and portal venous flow was performed so as to calculate the pulsatility ratio and the variation of flow with respiration. All patients had undergone cardiac catheterization.

[High frequency catheter ablation in young patients with permanent junctional reentry tachycardia and ectopic atrial tachycardia].

Ten young patients with a median age of 10.5 (range: 6 to 31) years suffering from the permanent form of junctional reciprocating tachycardia (PJRT; n = 7) and ectopic atrial tachycardia (AET; n = 3) were treated by transcatheter radiofrequency current application. Indications for interventional therapy were failure of medical therapy after a median of 3 antiarrhythmic drugs in all patients, syncope in 1, and impaired left ventricular function in 4 patients (PJRT n = 3, AET n = 1).

[Evaluation of congenital vena cava anomalies and acquired vena cava obstructions after atrial switch operation using spiral computerized tomography and 3-dimensional reconstruction].

We report spiral-CT findings in adult patients with congenital abnormalities of the vena cava and systemic venous obstructions after atrial switch operation. Especially systemic venous obstruction is a well-known complication following Mustard procedure for transposition of the great arteries. The results demonstrate that computed tomography, particularly with the use of 3-dimensional surface reconstruction, is very useful as a highly sensitive procedure for the detailed depiction of abnormalities of the vena cava or of residua and sequelae after inflow correction for complete transposition.

Sequelae after modified Fontan operation: postoperative haemodynamic data and organ function.

Objective: To investigate the specific sequelae of the Fontan operation, and particularly the potential sequelae of chronically elevated systemic venous pressure.

Design: A retrospective analysis of clinical and haemodynamic data and evaluation of organ function in 80 surviving patients undergoing modified Fontan operation for various forms of underlying functionally univentricular hearts.

Patients: 65 patients (81%) who had undergone a total cavopulmonary anastomosis and 15 an atriopulmonary anastomosis.

[Total cavopulmonary anastomosis for definitive palliation of complex univentricular cardiovascular systems--potential preoperative risk factors].

The modified Fontan operation for definitive palliation has been performed in an increasing number of patients with various forms of a functionally univentricular heart. To eliminate the influence of different surgical techniques only patients after total cavopulmonary anastomosis (TCPA) were included in this retrospective analysis of preoperative risk factors. The age at operation in 72 patients varied from 7 to 219 months (median 54 months); 29 patients had been younger than 4 years.

[Coronary sinus defects: rare form of interatrial communication].

Unlabelled: A coronary sinus defect results in a communication of variable size between the coronary sinus (CS) and the left atrium (LA). It is in most cases associated with a persistent left superior vena cava (l-SVC) and an atrial septal defect of the coronary sinus type and often part of a more complex cardiac malformation. If the CS to LA fenestration is the single cardiac defect, this anomaly provides the basis of an unusual form of interatrial communication, which may cause diagnostic difficulties.

Modified Fontan operation in functionally univentricular hearts: preoperative risk factors and intermediate results.

Background: The modified Fontan operation has been proposed as definitive palliation for an increasing variety of hearts with complex univentricular anatomy. To eliminate the influence of different surgical strategies, only patients undergoing total cavopulmonary anastomosis were included in this retrospective study.

Methods: Seventy-two patients had been operated on at ages ranging from 7 to 219 months, with 29 patients younger than 4 years.

Isolated aortic coarctation in neonates and infants: results of resection and end-to-end anastomosis.

Background: Operative resection is the treatment of choice for native aortic coarctation in most institutions. The ideal timing for elective repair is still a matter of debate. This study evaluated one institution's results with resection and end-to-end anastomosis in the first year of life.

[Intermediate and long-term outcome after percutaneous balloon dilatation of valvular pulmonary stenoses in childhood].

Pulmonary balloon valvuloplasty was performed in 52 patients aged 7 days to 19 years (mean 5.5 years). Mean balloon/anulus ratio was 1.

[Atrial flutter in young patients after corrective operation of congenital heart defects: therapy by high frequency catheter ablation].

Unlabelled: Radiofrequency catheter ablation has been used successfully in adult patients for treatment of atrial flutter. Three young patients (mean age 14.6 years) with common type atrial flutter (n = 2) and uncommon type atrial flutter (n = 1) underwent electrophysiologic study.

Total cavopulmonary anastomosis in patients less than three years of age.

Background: As young age at modified Fontan operation was thought to be a preoperative risk factor for poorer survival, we studied early and intermediate outcome in our young patient group.

Methods: Results in children less than 3 years of age (group I; n = 26; age range, 7 to 35 months) were compared with those in older patients (group II; n = 46; age range, 36 to 219 months). For both groups there was no significant difference with regard to preoperative pathology and hemodynamics.

Atrial baffle procedures for complete transposition of the great arteries: natural course of sinus node dysfunction and risk factors for dysrhythmias and sudden death.

359 patients after the Mustard (275) or Senning (84) operations for transposition of the great arteries were followed-up for a mean of 103.7 (range 0.4 to 204) months.

[Familial idiopathic atrial fibrillation with bradyarrhythmia].

Based upon a report of a 10-year-old boy, familial occurrence of idiopathic atrial fibrillation with bradyarrhythmia is presented. An autosomal dominant trait seems possible.

Coarctation of the pulmonary artery in neonates. Prevalence, diagnosis, and surgical treatment.

Stenosis or discontinuity of the central pulmonary artery at its bifurcation is often found in patients with congenital heart disease with intracardiac obstruction of the right side. The prevalence of this disease in autopsy cases is about 30%. The clinical prevalence has not been established yet because early diagnosis of this lesion is easily missed.

[Definitive therapy of supraventricular tachycardia using high frequency current catheter ablation].

Background: Catheter ablation using radiofrequency current has been proven to be an effective and save tool for the treatment of adult patients with accessory atrioventricular pathways and with atrioventricular nodal reentry tachycardia. This study was designed to analyse the efficacy of this method in children and adolescents.

Patients And Methods: Using radiofrequency current, catheter ablation of an accessory pathway or of AV nodal reentry tachycardia was performed in 13 patients (mean age 12.

[Emergency 12-hour transesophageal stimulation in a 21-month-old infant].

In a 21-month-old child with complex cyanotic congenital heart disease an aortopulmonary shunt was created as preparation for a modified Fontan operation. During the early postoperative period low cardiac output with right atrial pressures of 20 mm Hg developed due to a slow ventricular tachycardia (ventricular rate 135 bpm). Pharmacological interventions (isoprenaline 0.

[The automatic implantable cardioverter-defibrillator for prevention of sudden heart death in children and adolescents].

Little experience exists with the automatic implantable cardioverter-defibrillator in the pediatric population. Since 1990, an automatic implantable cardioverter defibrillator was implanted in four young patients (mean age 15.8 years, mean body weight 53.

[Atrial arrhythmias after modified Fontane operation: effect of preoperative hemodynamics and the kind of operation (atriopulmonary vs. total cavopulmonary anastomosis)].

Unlabelled: Between October 1986 and March 1992, occurrence of supraventricular tachycardia and sinus node dysfunction was investigated pre- and postoperatively by serial ECG and Holter monitors in 63 consecutive patients with univentricular circulation after modified Fontan operation (total cavopulmonary connection 39 patients, atriopulmonary connection 24 patients). Mean age at operation was 7.2 (0.

[Thrombotic occlusion of the abdominal aorta in the neonatal period--successful thrombolytic treatment].

Aortic thrombosis during neonatal period is rare and usually related to an umbilical artery catheter. In an infant (birth weight 3110 gm) with complete thrombosis of the abdominal aorta distal to the renal arteries of unknown etiology we started a fibrinolytic therapy with streptokinase at the age of 12 days (streptokinase intravenously with an initial loading dose of 3000 U/kg, maintenance 1000 U/kg/hr for 2 days). This was followed by a heparinisation (10,000 U/m2/d, 24 hours later 200 U/kg/d).

[Assessment with magnetic resonance tomography of anatomy and ventricular function after Mustard correction of transposition of the great arteries].

In order to evaluate postoperative sequelae and ventricular function after Mustard-operation in patients with transposition of the great arteries (TGA), 30 patients were assessed by magnetic resonance imaging in EKG-triggered spin-echo (SE) and gradient-echo (GE) technique. Twenty-three patients, aged 4.7 to 15.