M Dumoulin

Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.

We report data on a group of 37 VCFS patients with specific reference to their intelligence, behaviour, and social competence. Fifty five percent of the children had a borderline to normal IQ. Mental retardation (defined as IQ < 70 or > -2 SD below the mean) was found in 45%. In the majority, the mental retardation was mild (38%) and only two patients had moderate mental retardation. Severe mental retardation seems to be rare in VCFS. The present study shows also that the incidence of mental retardation is much higher in the familial than the de novo group. Intelligence is not correlated with the presence or absence of a heart defect. Significantly higher verbal IQs than performance IQs (probably related to deficits in visuospatial-perceptual functioning) were found. Problems in social-emotional functioning and attention were also found. Further longitudinal studies are necessary to provide an accurate prognosis and appropriate intervention for VCFS children.

Rheologic genesis of discrete subvalvular aortic stenosis: A Doppler echocardiographic study☆

To determine whether morphologic structures or abnormal flow patterns predispose to pathologic proliferation of subvalvular tissue, 26 patients (mean age 19.8 +/- 10.3 years) were studied greater than or equal to 6 months after operation for isolated discrete subvalvular aortic stenosis. The aortic root diameter and the mitral-aortic separation were measured with sector echocardiography. Flow patterns in the left ventricular outflow tract of these patients and control subjects were evaluated with a color flow mapping system optimized for the detection of turbulence. All control subjects had laminar flow throughout systole in the left ventricular outflow tract. By contrast, turbulence originating well below the site where the shelf had previously been resected was observed in 20 (77%) of the 26 patients. In 16 of these 20 patients turbulence was caused by a ridge, which in 13 patients could be identified as the offshoot of a ventricular band. In four patients the turbulence was caused by malalignment of the muscular and membranous septum, resulting in protrusion of the muscular septum into the outflow tract. Except for the latter four patients, the aortic root diameter was 84 +/- 10% of values predicted by body surface area, with values in six patients falling below the third percentile (p less than 0.01). The mitral-aortic separation was 9.7 +/- 3.5 mm, values in 21 patients falling above the 97th percentile (p less than 0.001). These data support the theory that discrete subvalvular aortic stenosis may be caused by a chronic flow disturbance, preferably in a small and long outflow tract. Left ventricular bands, if reaching the outflow tract, may be a factor.(ABSTRACT TRUNCATED AT 250 WORDS)

Serial cardiorespiratory exercise testing in patients with congenital heart disease

Aerobic capacity of patients with different forms of congenital heart disease was serially evaluated in 79 patients and the evolution was correlated with the lesion and the level of daily activity. The patients were divided into six groups: patients with a small ventricular septal defect (VSD) with mini shunt (n=14), mild pulmonary valve stenosis with gradient <40 mm Hg (PS) (n=12), mild to moderate aortic valve stenosis (gradient 36±17 mm Hg) (AS) (n=12), patients 4.7±2.1 years after repair of tetralogy of Fallot (PO-TF) (n=16), patients 2.2±2.9 years after closure of a high flow/high gradient VSD (PO-VSD) (n=13), and patients 2.6±1.7 years after Fontan repair (Fontan-PO) (n=12). Aerobic capacity was assessed by determination of the ventilatory anaerobic threshold (VAT). VAT reflects the highest aerobic exercise level prior to a disproportionate increase of CO2 and ventilation relative to O2 uptake; it is independent of patient motivation. Data are expressed as percentage of normal O2 uptake at VAT, determined in 234 age/gender matched controls. The habitual level of physical activity was assessed by a standardised questionnaire. Aerobic capacity in all subgroups of patients, even with very mild defects, was at or below the lower limit of normal. Children left unrestricted from physical exercise (VSD, PS, PO-VSD) had no change over the study period. However, aerobic capacity of patients with medically imposed physical restrictions (AS) and significant residual haemodynamic lesions (PO-TF, Fontan) decreased with age. In patients with AS, PO-TF and Fontan-PO the habitual level of physical activity was significantly decreased compared to controls.ConclusionCardiovascular exercise performance in children with medically imposed restriction of intensive physical exercise (AS) or residual haemodynamic lesions (TF and Fontan-PO) declines progressively during medium-term follow up. In the other patient groups (VSD, PS, VSD-PO), exercise performance remains stable.

Cardiovascular malformations in Turner's and Noonan's syndrome.

The cardiovascular findings in 9 patients with Turners syndrome and 9 patients with Noonans syndrome are described. Of the 9 patients with Turners syndrome, 4 had coarctation of the aorta, 4 aorta stenosis, and the remaining patient both these lesions. All patients with Noonans syndrome had pulmonary valve stenosis. In addition, 2 children had an atrial septal defect and 1 an atrial septal defect associated with mild supravalvar pulmonary stenosis and anomalous drainage of the right upper pulmonary veins. In the majority of patients the electrocardiogram was different from the pattern usually seen in pulmonary valve stenosis: the QRS axis in the frontal plane was superiorly oriented in 7 out of 9 cases and in 2 patients evidence of right ventricular hypertrophy was lacking in the right praecordial leads; in 5 patients an rS complex was seen in the left praecordial leads. Gross thickening of pulmonary valve cusps was found at operation in 4 of the 8 patients who were operated on. Although phenotypically related, Turners and Noonans syndromes are associated with different and distinct cardiovascular anomalies.

Homograft valve insertion for pulmonary regurgitation late after valveless repair of right ventricular outflow tract obstruction

OBJECTIVE Pulmonary regurgitation after valveless repair of right ventricular outflow tract obstruction (RVOTO) results in progressive right ventricular (RV) dilatation and dysfunction in an increasing number of patients. Since 1989, we have exclusively used cryopreserved homografts to restore pulmonary valve competence in these patients. Our 9-year-experience with pulmonary valve insertion (PVI) in such cases has been reviewed to evaluate the indications for this procedure and its benefits. METHODS From 1989 to 1998, 49 patients (original diagnosis: tetralogy of Fallot in 42 patients and pulmonary stenosis in seven) aged from 3 to 42 years (mean 18 +/- 9 years) underwent PVI with homografts late (mean 13 +/- 7 years) after valveless repair of RVOTO (transannular patch, n = 38; pulmonary valvulotomy therefore tau chi infundibular patch, n = 11). Preoperatively, all patients had severe pulmonary regurgitation, cardiomegaly, significant to severe RV dilatation and dysfunction, fatigue, reduced exercise tolerance, and were in NYHA class II (n = 43) or III (n = 6). Ten patients had ventricular arrhythmia. RESULTS There was one early death, due to air embolism, and one late death, due to ventricular arrhythmia. All survivors but one, who subsequently underwent heart transplant, had symptomatic improvement after homograft insertion. The mean RV end-diastolic diameter decreased from 38 +/- 9 to 26 +/- 8 mm (P < 0.01), and cardiothoracic ratio decreased from 0.62 +/- 0.07 to 0.54 +/- 0.04 (P < 0.01). Good late homograft function was the rule, with all the survivors being free of reoperation for valve failure. At a mean follow-up of 42 +/- 28 months, 41 patients (87% of the survivors) were in New York Heart Association (NYHA) class I and six in class II. Within this group three patients are still in treatment for RV failure and five for ventricular arrhythmias. In these patients, the average interval between RVOTO repair and PVI was significantly longer than in the others (18 +/- 7 vs. 12 +/- 6 years, P < 0.01). CONCLUSION Homograft PVI is safe and provides clinical improvement with a significant reduction in RV volume overload and excellent mid-term results in most patients with severe PR late after RVOTO repair. This procedure should be undertaken early in symptomatic patients, before severe RV failure and ventricular arrhythmias ensue.

Cardiorespiratory exercise capacity after surgical closure of atrial septal defect is influenced by the age at surgery.

To study the influence of age at the time of the operation on long-term functional performance in children undergoing surgery for atrial septal defect (ASD) of the secundum type, exercise tolerance was assessed in 24 patients and values were compared with those of normal subjects. Patients were divided into two groups: 11 patients had surgery before the age of 5 years (group 1) and 13 patients had surgery at a later age (group 2). There were no significant differences between groups 1 and 2 with regard to the pulmonary-to-systemic flow ratio, pulmonary artery pressure, and the interval between surgery and exercise testing. Performance capacity was assessed by determination of the ventilatory threshold during submaximal exercise. The mean value for the ventilatory threshold in group 1 was normal (99.4 +/- 15.1% of the age-predicted normal value). In the children who were more than 5 years of age at the time of the operation, the ventilatory threshold was below normal (84.5 +/- 10.9% of the age-predicted normal value). Furthermore, in group 2 more patients (77%) had values that were below normal (below the 95% confidence limit of the age-predicted normal value) compared with group 1 (27%). It is concluded that functional performance capacity is better when surgical closure of ASD is performed in early childhood and before the age of 5 years rather than at a later age.

Percutaneous treatment of stenosed major aortopulmonary collaterals with balloon dilatation and stenting: what can be achieved?

Background The natural history of major aortopulmonary collateral arteries (MAPCAs) in patients with pulmonary atresia and ventricular septal defect (PA-VSD) is frequently complicated by progressive stenosis, leading to pulmonary hypoperfusion and debilitating hypoxaemia. Objective To evaluate balloon dilatation and stenting for relief of stenoses and improvement of pulmonary flow in patients with PA-VSD. Design Retrospective analysis of all patients where dilatation of MAPCA stenoses was attempted. Patients Twelve patients with stenotic MAPCAs. Interventions Dilatation was attempted in 25 stenoses. Vessels were stented if elastic recoil was noticed (n = 3), in the presence of long segment stenosis (n = 4) or marked tortuosity (n = 1). Main outcome measures Diameter of stenoses before and after dilatation as well as arterial oxygen saturation data. Patients proceeding to surgical therapy. Results Two stenosed MAPCAs could not be crossed by a catheter. Four lesions were non-dilatable despite the use of high inflation pressures (18 atm). Six stenoses could be completely dilatated using angioplasty only; in five, only partial dilatation was obtained; eight stenoses needed stenting. In the group with partial expansion the mean (SD) diameter increased from 1.7 (0.8) to 3.5 (1.7) mm (p < 0.05); where full dilatation was achieved it increased from 2.1 (0.8) to 4.8 (1.9) mm (p < 0.05); and in the stented group it increased from 2.3 (0.9) to 5.0 (2.5) mm (p < 0.01). Percutaneous arterial oxygen saturation increased from 75(8)% to 82(8)% (p < 0.001). No complications were experienced during the procedures. Repeat dilatation was attempted in six stenoses, but only two procedures were successful. There were two episodes of vasospasm and in one an aneurysm had developed after redilatation. Two patients proceeded to outflow plasty and two subsequently had a unifocalisation procedure. Conclusions Pulmonary blood flow can be improved using balloon angioplasty or stents in patients with stenotic MAPCA; however, 17% of the lesions were not dilatable. Procedures are generally safe, but carry a small risk of vasospasm, dissection, occlusion or aneurysm formation.

Interrupted right aortic arch in DiGeorge syndrome.

The clinical and necropsy findings in four cases of interrupted right aortic arch and right descending aorta associated with DiGeorge syndrome (congenital absence or hypoplasia of the thymus and parathyroids) are described. All patients had a mirror image of type B interruption, namely a right aortic arch with reversed branching pattern and an interruption between the right common carotid and right subclavian artery. In two patients there was a doubly committed subarterial ventricular septal defect and in the two other patients there was a perimembranous septal defect. Three patients had a bicuspid aortic valve. In a consecutive series of 185 necropsies in infants and children with congenital heart disease there were no cases of interrupted right aortic arch that were not associated with DiGeorge syndrome. These observations and previous reports indicate that the concurrence of these two rare conditions is more than fortuitous. In patients with an interrupted aortic arch the clinician should be aware of the common association with DiGeorge syndrome. If the interruption is associated with a right-sided descending aorta it is highly probable that the patient has DiGeorge syndrome.

Self expandable stents for relief of venous baffle obstruction after the Mustard operation

Objective Obstruction of the venous pathways after Mustard repair for transposition of the great arteries is associated with an increased risk of arrhythmia and sudden death. The purpose of this study was to assess the effectiveness of the largest (tracheal 22 × 40 mm) Wallstents in treating baffle obstructions. Design Retrospective analysis of patients with stented venous pathways. Subjects Eleven patients with baffle obstruction after Mustard repair for transposition of the great arteries. Interventions Stenoses were dilated with an 18 or 20 mm balloon. However, recoil was noticed in 11 patients: immediately (n = 7) or on repeat angiography (n = 4). Eighteen stents were implanted (mean (SD)) 18 (3.3) years postoperatively. After dilatation a tracheal Wallstent (11.5 F) was deployed. Main outcome measures Relief of obstruction, haemodynamic improvement. Results In the inferior vena cava, 10 stents were deployed in seven baffle obstructions with an increase in diameter from 9.8 (2.4) mm to 16.5 (1.4) mm (p < 0.01) and a mean (SD) pressure gradient decrease from 5.1 (3.6) mm Hg to 1.4 (2.0) mm Hg; in the superior vena cava, eight stents were implanted increasing the diameter from 9.1 (3.7) mm to 15.6 (3.8) mm (p < 0.001) with a decrease in mean pressure gradient from 5.1 (2.7) mm Hg to 1.9 (1.5) mm Hg. No complications were experienced during implantation. No anticoagulation was prescribed. During follow up (1.7 (0.6) years; range, 0.9–2.6) no problems were noted; five patients were re-catheterised without change in measurements. There was no evidence of peal formation in any of the stents. Conclusion It is concluded that Wallstents are safe, easy to use, and effective in relieving baffle obstruction. Anticoagulation does not seem neccessary.

Management of late complications after classic Fontan procedure by conversion to total cavopulmonary connection.

Classic Fontan procedures, such as atriopulmonary connection or atrioventricular connection, are associated with right atrial dilatation and several late complications. Seven patients with univentricular heart who presented with exercise intolerance (n = 7), severely dilated right atrium (n = 7) with pulmonary vein compression (n = 3), atrial arrhythmias resistant to medical treatment (n = 4), cyanosis (n = 4), diffuse effusions and oedema (n = 1), and protein-losing enteropathy (n = 1), underwent conversion to total cavopulmonary connection 5.8-14.4 years after a previous atriopulmonary connection (n = 6) or atrioventricular connection (n = 1). A 14-year-old boy who, preoperatively, was in ventricular failure and a very poor state died early after conversion because of low cardiac output. All survivors had either marked or partial clinical improvement with regression of cardiomegaly, absence of pulmonary vein compression or cyanosis, and recovery of sinus rhythm. Conversion to total cavopulmonary connection appears to be effective in the treatment of late complications after classic Fontan procedures. It should be considered early in symptomatic patients, before significant ventricular dysfunction and clinical deterioration ensue.