The objective of this study was to review the echocardiographic findings and autopsy correlates of pulmonary atresia with an intact ventricular septum when diagnosed during fetal life. All cases with this lesion (nearly 60) seen in the Perinatal Cardiology unit of Guy's Hospital since 1983 are part of this study. More than half of the cases were detected within the last two years, and all bar three were referred because of suspicion of a cardiac malformation detected on routine obstetric scanning. The cases were divided into two distinct groups. On the one hand were those with dilatation of the chambers of the right heart. These had a uniformly poor prognosis. Severe regurgitation of the tricuspid valve was a characteristic feature. On the other hand were the cases with cavitary hypoplasia due to mural overgrowth. Direct measurements of pressure in one such case revealed suprasystemic values in the right ventricle. Although contemplated, fetal intervention proved impossible. Autopsy revealed cases with either valvar or infundibular atresia. In most cases diagnosed prior to 24 weeks of gestation, mothers opted for termination of pregnancy. All cases with dilatation of the right ventricle died. Of pregnancies which continued, only 30% of children are still alive, all but one being less than two years of age at present. The use of cross-sectional and Doppler echocardiography permits the accurate diagnosis of pulmonary atresia with an intact ventricular septum during fetal life. Autopsied cases showed strong correlation with the echocardiographic findings. The poor prognosis in most cases warrants consideration in the future of intervention during fetal life.

In a series of over 7,000 pregnancies referred for fetal echocardiography, atrioventricular septal defects were detected in 103 fetuses, (17% of 594 anomalies). A large proportion (42%) also had isomerism of the atrial appendages, abnormalities in arrangement and morphology of the thoracoabdominal organs, and a high incidence of associated cardiac malformations. When this was associated with abnormalities of rhythm, the fetus often showed signs of intrauterine congestive heart failure; hydrops, pleural effusion and ascites. Those with trisomic karyotypes (predominantly trisomy 21) were associated with usual atrial arrangement and concordant connections of the cardiac segments. Of the 103 fetuses, 53 were examined at autopsy. Extracardiac abnormalities were documented, and detailed morphologic examination and measurements of the heart were made. The ratios of inlet to outlet septal disproportion were not significantly different from those found in postnatal hearts. Again, as in postnatal life, those hearts with common atrioventricular orifice had a greater degree of ‘scooping’ of the ventricular septum compared to those with separate right and left atrioventricular valves. There were no significant differences in these findings in relation to the karyotype of the fetus. There was an increased incidence of ventricular dominance, and also of coarctation or hypoplasia of the aortic arch, in fetal hearts when compared to autopsied hearts obtained in postnatal life. In summary, the distinguishing morphological characteristics of atrioventricular septal defect are present from 16 weeks of gestation.

The structural complexity of the right ventricle has made quantitative evaluation difficult. Conventional cross-sectional echocardiographic methods are limited by geometric assumptions and the position of the planes used for imaging. Previous reports have demonstrated accurate three-dimensional echocardiographic quantitation of the right ventricle in-vitro and in experimental animals. We adapted a previously described method for three-dimensional reconstruction of the left ventricle to compute right ventricular volume and ejection fraction in a clinical setting.

We examined 29 patients aged from 2 to 42 years with pulmonary hypertension, by three-dimensional echocardiography and resonance imaging. Correlation and agreement were calculated for volumes and ejection fractions. Three-dimensional echocardiographic reconstruction, when compared to resonance imaging, yielded r values of 0.95 and 0.93, and mean differences (bias) of 31% ± 19% and 33% ± 18%, for systolic and diastolic volumes respectively. Interobserver variability was low (12.9% and 8.0%). Ejection fraction as calculated by three-dimensional echocardiography showed close agreement with resonance images (bias=l% ±7%). Three dimensional echocardiography is now a method of measuring right ventricular ejection fraction in the clinical setting which produces results comparable to those of resonance imaging. Volume measurements correlated well for systole and diastole, but consistently underestimated values produced from resonance images.

Aneurysm of the arterial duct is well described when presenting in infants and children. The case we present were detected by fetal echocardiogram in late pregnancy, indicating the congenital nature of this lesion and excluding widely accepted explanations of the pathogenesis. Spontaneous closure may occur more frequently than the literature suggests. We recommend a conservative approach in asymptomatic patients.

A restrictive atrial septal defect is a risk factor for mortality in some forms of left heart disease, and can be predicted from the patterns of flow in the pulmonary veins in fetal life. Our objective was to document the patterns of pulmonary venous flow of blood in different forms of left heart disease in the fetus. The pulmonary venous flow profile was documented in 61 cases. The systolic, diastolic, and reverse waves were measured and compared to normal. Profiles of venous flow suggestive of restriction at the atrial septum were found in 32 of 61 cases using the ratio of systolic to diastolic waves, and 26 cases using the height of the reverse wave.

A restrictive atrial septal defect was found most commonly in fetuses with critical aortic stenosis or the hypoplastic left heart syndrome, and was less frequently seen in the setting of mitral atresia or coarctation. In order to plan appropriate postnatal management, examination of the profiles of pulmonary venous flow is an essential part of the evaluation of any form of left heart disease detected in the fetus.

The most important congenital heart disorders occurring in children are mainly due to malformations of cardiac structure. The underlying anatomical defect is established soon after the heart is first formed in embryonic life, less than 8 weeks after conception. However, the full echocardiographic picture may not be apparent until after birth or even later in childhood.