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In adults transesophageal echocardiography (TEE) has become a well-established method for the assessment of cardiac malformations. In children the transthoracic approach (TTE) gives excellent resolution and cardiac malformations can be well defined in most of the cases. Uncertainty may, nevertheless, exist in complex anomalies in spite of TTE and angiography or after surgical interventions. Recently pediatric 5-mHz TEE probes have been developed with acceptable diameters of 6, 9 and 11 mm. The feasibility and the potential risks of TEE were studied in 47 patients, aged from 5 months to 16 years (mean 5 9/12 years), weighing from 5 to 47 kg (mean 19.7 kg). 35 children had congenital malformations: 15 VSD + PS, 5 VSD + PHT, 3 ASD, 5 A-V canal malformations, 1 tricuspid atresia, 2 subvalvar aortic stenosis, 3 endocarditis, 1 normal. Twelve children had rheumatic heart disease. Eight patients had more than 1 TEE. The examination was performed either under general anaesthesia just before of after surgical intervention in 32 or under sedation and with local anaesthesia in the others. There was no complication, but in 3 intubated children under 3 years of age TEE was not possible; obstruction of the endotracheal tube occurred. Adequate imaging was obtained in most of the children with one or the other probe. Additional information was obtained in 28 patients (52%). In 5 of them these informations modified the surgical procedure. We conclude that TEE is feasible in children and has a low risk of complications when practised with care.(ABSTRACT TRUNCATED AT 250 WORDS)

Surgery for congenital heart defects started 50 years ago with "closed" procedures, and open heart surgery is in its forth decade. Thus, long-term results are now available. Although a majority of patients lead normal lives, problems do exist. Hemodynamic anomalies can be related to residual lesions or to persistent systemic hypertension (after coarctation repair) or pulmonary hypertension (after late repair of left to right shunt lesions). Right or left ventricular dysfunction may be observed, due to longstanding overload, hypoxia or to the open heart procedure itself. Rhythm disturbances have a tendency to increase with the passage of time after surgery. After ventricular surgery (repair of ventricular septal defect and tetralogy of Fallot), conduction defects and ventricular arrhythmias are prevalent. They may lead to late sudden death. After atrial surgery, sinus node dysfunction and atrial arrhythmias are observed. Problems related to growth of the patient exist essentially in cases where foreign material (conduits, prostheses) have been implanted. Many patients, with definitive repair or palliative operation, have become adults. This is a new challenge for the adult cardiologist, and it is a duty of the pediatric cardiologist to hand over his knowledge of this pathology.

A case is described of a newborn infant, small for gestational age, with the features of the "fetal alcohol syndrome", who presented a murmur within the first few days of life, and died at age 7 days in heart failure. Autopsy revealed interruption of the aortic arch, type A, an aortopulmonary window and intact interventricular septum. The association of "fetal alcohol syndrome" and cardiac malformation is discussed, with reference to other cases described in the literature.

To test the diagnostic accuracy of pulsed Doppler and two-dimensional echocardiography (2D-echo) in ventricular septal defect (VSD), 32 children were studied. All were suspected on clinical grounds to have a VSD. In 17 children, the VSD was proven by cardiac catheterization (group I, mean age 10 years); in 15, only non-invasive investigation was carried out (group II, mean age 1 year). In group I, 2D-echo showed a ventricular septal defect in 14 cases (82%); the Doppler study demonstrated a typical systolic turbulent flow in the right ventricle, in front of the septum, in all cases. In group II, the VSD was visualized by 2D-echo in 11 cases (73%). Pulsed Doppler showed a typical turbulent flow in the right ventricle in all cases. Thus, pulsed Doppler appears more sensitive in detecting ventricular septal defect--especially of small size--than 2D-echo. The diagnostic value of Doppler remains intact when associated cardiac malformations are present and in cases of pulmonary hypertension, as long as the shunt is not reversed.

Twenty infants underwent coarctectomy between 1972 and 1979, 12 were less than one month old at surgery. One infant died after the procedure (5% mortality). Seven underwent open heart surgery later in the first year of life for associated intracardiac defects; there were 3 early and one late death. Of the 15 survivors, 12 have been followed up for 6 months to 6 years (mean 3 years). All are actually asymptomatic. Arterial blood pressure is slightly higher in the leg than in the arm in 8 patients (as in normal children), equal in leg and arm in 2 and lower in the leg than in the arm in 2 (recoarctation). Postoperative catheterization was done in six patients. A pressure gradient across the anastomotic site was confirmed in two (32 and 28 mm Hg). In the other four, no pressure gradient was found, and the site of the anastomosis was hardly or not at all detectable on the angiogram. Coarctectomy in newborns and infants now carries a low operative mortality. With proper operative technique, normal growth of the anastomotic site is usually obtained.

The results of total correction of congenital heart defects in the first year of life are presented. Overall surgical mortality in these generally highly symptomatic infants was 35%. The surgical risk is mainly related to the type of defect: mortality is low (10%) in uncomplicated septal defects and in transpositions of the great vessels, higher in the coarctation syndromes (30%), and considerable in complex heart defects. The weight of the infant seems to be another factor, surgical mortality being high when the patient's weight is less than 4.5 kg. Indications for palliative operation or total repair are discussed on the basis of the presented results.

The authors report the case of a patient with spherophakia and brachymorphism (Marchesani syndrome). This congenital and familial disorder is characterized by short stature, short limbs and thick extremities, limitation of joint mobility, a peculiar facies and spherophakia (rounded lens). Mentality is normal. The patient presented here, an eleven-year-old girl, had in addition a subvalvular fibromuscular aortic stenosis. A detailed radiological survey of the skeleton demonstrated a disorder of enchondral growth, particularly evident in the extremities, with short and wide diaphyses, thin cortical bone, and relatively discrete epiphyseal deformities. The vertebral bodies were slightly rounded anteriorly, th discs were thinned, and the ribs widened. The spinal canal and the foramen magnum were narrowed, and the lateral processes short and wide. There was thickening of the skull vault. A mucopolysaccharidosis and a mucolipidosis were excluded by biochemical study of skin fibroblasts in culture.

The case is reported of a newborn with pulmonary valvular subatresia and intact interventricular septum and moderate right ventricular hypoplasia, treated with pulmonary commissurotomy alone. In the immediate postoperative period the ductus arteriosus closed, resulting in deep hypoxia and acidosis. With the infusion of PG E2 the ductus reopened and the baby's condition improved markedly. The ductus was kept open for 20 days, during which time adaptation of the right ventricle must have occurred. Indeed, after definitive spontaneous closure of the ductus, right ventricular output proved sufficient to insure satisfactory pulmonary perfusion.

Cardiac dimensions and left and right ventricular function indices were studied consecutively in 53 healthy newborn babies throughout their first year of life. Cardiac dimensions, except right ventricular (RV) dimension, increase linearly with age, weight and body surface area, the relation being best described as a linear function of BSA. Left ventricular function indices do no change significantly during the first year of life. Right ventricular systolic time interval ratio (RVPEP/RVET) is high at birth, but declines rapidly during the first hours and days. This change is best described as a parabolic function and is an indicator of the physiological fall of pulmonary vascular resistances.

Between 1972 and 1983, 29 newborns and infants were treated surgically for coarctation of the aorta. The mean age at operation was 2 months 7 days. 76% of the patients (22/29) had an associated intracardiac malformation, 8 requiring correction. The early mortality rate (due to coarctation repair) was 7% (2/29). The total mortality rate was 31% (7/29). Four of the 7 late deaths occurred during surgical correction of an intracardiac malformation. Twenty children were followed up for 1 to 10 years (mean 4 1/2 years) after surgery. Four patients (20%) had a recoarctation. All 4 recurrences occurred within 2 years after surgery, and in patients operated on during the first month of life. Blood pressure at the latest outpatient visit was above the 97th percentile in 6 children, 4 of whom had recoarctation. Among the patients with no evidence of recurrence, 86% had a blood pressure between the 50th and the 97th percentile or just above the 97th. Five patients underwent a maximal exercise test: none developed excessive elevation of systolic blood pressure, and no pressure difference appeared between arm and leg during the exercise test in those who had none at rest. Thus, early surgical correction improves the prognosis of infantile coarctation syndrome, but recoarctation may occur; long term follow-up is advisable.