One hundred-ninety-four fetuses with irregular heart rates were seen over a five-year period at a tertiary center for fetal cardiology. The median gestation at referral was 31 weeks, with a range from 19 to 41 weeks. Of these fetuses, 157 had extrasystoles of either atrial or ventricular origin. Blocked atrial ectopic beats had led to slow ventricular rates (80–110 beats per minute) in 37 fetuses. The structure of the heart was normal in all except two fetuses. Postnatal outcome was known for 165 of the fetuses. Of these, 157 (95%) had an uneventful antenatal and postnatal course. Tachyarrhythmias developed in eight fetuses (5%) in either the prenatal (n=4) or postnatal (n=4) period. Five of 37 fetuses with blocked atrial ectopic beats (13%) developed a tachyarrhythmia. No fetus developed hydrops, and all infants survived. All cases had required treatment with antiarrhythmic drugs. The occurrence of an irregular heart rhythm in the fetus, therefore, is not always benign. Fetuses with blocked atrial ectopic beats require particularly close monitoring.

Valvar regurgitation has been commonly found by echocardiography in adults and older children with normal hearts, but there is limited knowledge in neonates. To evaluate the prevalence of valvar regurgitation and analyze risk factors, echocardiography was performed on 975 consecutive neonates (1–7 days of age) with normal hearts. Regurgitation was detected and graded with pulsed, continuous-wave and color Doppler imaging techniques. Thirty-five cases with valvar regurgitation were followed for one month. The results showed that 369 (37.8%) neonates had evidence of regurgitation in one or more valves. Tricuspid regurgitation was most commonly found and was detected in 345 (35.4%) neonates, mitral regurgitation in 51 (5.2%), pulmonic regurgitation in 25 (2.6%), and aortic regurgitation in eight (0.8%). Most of them were trivial or mild and involved just one valve. Moderate or severe regurgitation was detected only in the tricuspid valve (3%) and the mitral valve (0.1 %). Five (0.5%) neonates with severe tricuspid regurgitation had heart murmurs, and two (0.2%) of them presented with cardiorespiratory distress. The risk factors for tricuspid and mitral regurgitation included lower chronologic age, gestational age and whether the neonates had a patent arterial duct; whereas those for tricuspid regurgitation also related to lower Apgar scores, birth weight and whether the neonates had a patent oval foramen. About 90% of the tricuspid regurgitation disappeared and the remaining 10% decreased in one month. We concluded that trivial or mild valvar regurgitation is commonly found in neonates with normal hearts. Moderate or severe regurgitation is relatively rare and occurs only in the tricuspid and mitral valves with a few cases causing clinical attention.

The assessment of diastolic function in the developing fetus is difficult because of constantly changing conditions of loading. Previous reports suggesting improved ventricular compliance with fetal development are limited by the Doppler indices utilized. Using load-dependent and independent variables, we examined and compared serially right and left ventricular diastolic function in 11 normal fetuses (44 echocardiographic studies) at 22±1.0 weeks; 30±1.0 weeks; 36±1.0 weeks of gestation and 64±25 hours postnatally. Load-dependent indices included early to late time velocity integral ratios and percentage of early filling to total diastolic filling. The load-independent index was the peak filling rate normalized to the total time velocity integral. Both right and left ventricular time velocity integral ratios were similar initially, and shifted from late to early diastole with increasing gestational age (greater ratios). The shift in left ventricular ratios was greater, and increased earlier in fetal development. The right ventricular normalized peak filling rate decreased with increasing gestational age, while the left ventricular normalized peak filling rate remained constant, but was greater than the right ventricular rate postnatally. Both right and left ventricular filling shifts from late “active” to early “passive” diastole during fetal development. Left ventricular ratios are greater and increase earlier in fetal development, likely influenced by changes in preload. The right and left ventricular normalized peak filling rates were similar prenatally, indicating similar diastolic filling properties, but disparate postnatally, consistent with improved left ventricular relaxation immediately preceding or at the time of onset of transitional circulation.

Most patients with DiGeorge syndrome require surgery to their heart defect during infancy and are at risk of developing transfusion-associated graft-versus-host disease if non-irradiated blood is used perioperatively. Because of its wide clinical variability, DiGeorge syndrome may not be recognized before surgery and thus a high level of vigilance is required. An infant is described who developed fatal graft-versus-host disease after receiving non-irradiated blood components during surgery for classical tetralogy of Fallot; the postoperative clinical course and autopsy findings were consistent with underlying DiGeorge syndrome. An informal survey of the 18 pediatric cardiology units in the United Kingdom and the Republic of Ireland showed no consensus as to which patients should be screened for DiGeorge syndrome, which screening test to use and to whom irradiated blood components should or should not be given to prevent transfusion associated graft-versus-host disease. Assessment of T-cell numbers appears to be the preferred screening method to determine those who might benefit from receiving such therapy.

The purpose of this study was to assess cardiorespiratory responses to submaximal exercise in patients with univentricular atrioventricular connection after the Fontan operation, and to evaluate whether changes occur during medium-term follow-up. Eighteen patients (age 12.1±5.5 years) underwent graded exercise test on a treadmill 2.3±1.4 year after the Fontan repair. Ventilatory gases were measured using breath-by-breath analysis. Results were compared to gender/age-matched controls. Twelve patients (age 14.2±5.4 years) were reevaluated 2.4±2.1 years after the first test. Aerobic exercise performance was subnormal in all patients during the first test. At the lowest level of exercise, the ventilatory threshold was already surpassed in 6/18 patients, while it was reduced in all other patients (p<0.001). All patients were in stable sinus rhythm throughout the test. Heart rate at all exercise levels was ±10% below normal (p<0.05). The respiratory frequency was increased at all exercise levels (p<0.001). The ventilatory equivalent for oxygen was increased (p<0.001), and the end-tidal tension of carbon dioxide was decreased (p<0.001). The ratio of physiological dead space/tidal volume was increased in all patients (p<0.001), while the normal decrease of this ratio during exercise was not observed. Upon reevaluation heart rate, respiratory rate, oxygen uptake, venti latory equivalent for oxygen, end-tidal carbon dioxide tension and physiological dead space did not change signifi cantly. Only a slight further decrease in ventilatory threshold was observed. Aerobic performance after the Fontan procedure ranges widely from just above resting metabolic rate to the lower limit of normal. Dyspnea during exercise is exacerbated by a decreased ventilatory threshold, increased physiological dead space, and decreased respir-atory efficiency. Cardiorespiratory response to exercise, nonetheless, remains relatively stable during medium-term follow-up.

We described previously that the degree of deficiency of the ventricular septum (scooping) affects electrocardiographic findings in atrioventricular septal defect with separate right and left atrioventricular orifices. The aim of this study was to clarify the clinicomorphological relationships of the degree of scooping, the precise morphology of the atrioventricular valve, and electrocardiographic findings in hearts having a common atrioventricular orifice. In 63 patients with usual atrial arrangement, the outlet, scoop and inlet dimensions of the ventricular septum were measured by biplanar cineangiography and were compared with the body surface area. The scoop/outlet ratio and inlet/outlet ratio were also compared with the body surface area, atrioventricular valvar morphology, electrocardiographic findings, and severity of regurgitation of the atrioventricular valve. The results showed that the three individual dimensions of the septum correlated significantly with the body surface area, even though the scoop/outlet ratio and inlet/outlet ratio did not. A correlation was found between the scoop/outlet ratio and the degree of left axis deviation on the electrocardiogram (r=0.74, p<0.001). In 16 patients with division of the inferior bridging leaflet, there was a lower scoop/outlet ratio than in the remaining 37 with an undivided bridging leaflet (p<0.01). Of 24 patients with counterclockwise rotation in the horizontal loop of the vectorcardiogram, 22 had an undivided inferior bridging leaflet (p<0.01). The morphology of the superior bridging leaflet, in contrast, was not associated with the scoop/outlet ratio, and neither was the severity of valvar regurgitation. We conclude that the degree of scooping of the ventricular septum is related not only to electrocardiographic findings, but also to the morphology of the inferior bridging leaflet in atrioventricular septal defect with common atrioventricular orifice.

We report the progressive development of pulmonary hypertension despite the presence of severe pulmonary stenosis in three patients with cyanotic congenital heart disease. The associated intracardiac lesions were complete transposition with a ventricular septal defect, double outlet right ventricle, and a heart with univentricular atrioventricular connection, respectively. Serial measurements on hemodynamics and histological findings documented the progression of pulmonary hypertension and pulmonary vascular diseases. The underlying etiology remains speculative. In view of the possibility of development of pulmonary hypertension despite a ‘protected’ pulmonary vasculature, corrective surgery should be contemplated as soon as technically feasible.

Since 1985 a physical and instrumental cardiac study was carried out in 41 children with perinatal HIV-1 infection in order to assess the prevalence and natural history of cardiac involvement. Children were followed for 66 (range 8-109) months; eight of 41 died of HIV-1 related diseases. The cumulative proportion of children with cardiac manifestations at age of seven years was 14.9% (95% CI: 4.9-31.5%). Cardiac abnormalities were detected in eight of 41 patients (19.5%) and were more significantly (p=0.003) recorded in children who died of HIV-1 related diseases (five of eight, 62.5%). Left ventricular systolic function was normal in most patients during the follow-up and did not depend on zidovudine treatment. Two patients had a severe dilated cardiomyopathy and underwent subsequently a stable regression as far as the clinical and instrumental frame was concerned. Only one patient died because of cardiac disease. We conclude that in our group ofperinatally HIV- 1 infected children, cardiac involvement is relatively rare, represents a late complication compared to other related HIV-1 diseases and occurs in advanced stages of illness. Cardiac disease is therefore a hallmark of poor prognosis, but is rarely the ultimate cause of death.

The revolution in molecular genetics is contributing to the understanding of normal and abnormal cardiovascular development and morphogenesis. Recent investigations have shown that a growing number of congenital heart malformations is due to single gene defects. The combined contribution of clinical and molecular studies is providing the chromosomal map of the genes related to these isolated cardiac defects, and to syndromes characteristically associated with specific cardiac malformations. These advances are relevant to clinical practice, since the accumulated knowledge can improve the quality of management of affected patients.

Valproic acid is a known teratogen, giving rise to a typical craniofacial appearance, the fetal valproate syndrome. Congenital heart malformations in this syndrome have most commonly been ventricular septal defects. We report a child with familial craniosynostosis, and tetralogy of Fallot, following intrauterine exposure to valproic acid.

For the visualization of the coronary arterial patterns in complete transposition (concordant atrioventricular and discordant ventriculoarterial connections), balloon occlusion aortography has been performed in right and left anterior oblique or in frontal and lateral views. These views, however, are often unsatisfactory because of super-imposition of the aortic sinuses. The so-called “laid-back” view is a newly developed angiographic projection in which the aortic sinuses and the intervening commissures are imaged as if they were seen from below and the front. We performed such laid-back aortography in 36 consecutive patients with an echocardiographic diagnosis of complete transposition. In 23 of 36 patients, we obtained additional aortograms in right and left anterior oblique views. For the evaluation of the diagnostic value of the laid-back view, as compared with that of the combined right and left anterior oblique views, both sets of aortograms were reviewed independently by the five reviewers who were asked to make a diagnosis and to specify their levels of confidence (“definite,” “probable,” and “possible”) for their diagnosis. Error rates were significantly lower for the laid-back aortograms than for the combined right and left aortograms (4 and 11%, respectively). An increased level of confidence was significantly associated with the laid-back aortograms. We illustrate the anatomy of various coronary arterial patterns seen by laid-back aortography.

Restrictive cardiomyopathy is a rare disease in children and adolescents. We have now encountered eight such cases in infants and children aged between nine months and 14 years. The reasons for admission to hospital were not very specific and included recurrent bronchitis, thoracic deformity, pathologic findings on routine electro-cardiography, or signs of cardiac failure. Despite two cases with atrial flutter, the characteristic electrocardiographic sign was a P-wave in lead II of about 0.6 to 1.5 m V. Echocardiographically, the leading feature was enlargement of the atriums, seen in cross-sectional and M-mode tracings. Diameters and functional parameters for the left ventricle, and the EF-slope of the mitral valve were normal. In four patients examined specifically for diis aspect, a typical E/A-ratio was found. Cardiac catheterization was performed in all patients. Left atrial or pulmonary capillary wedge pressures were all abnormal, and pulmonary arterial pressures ranged from 30 to 60 mm Hg. Calculated pulmonary resistances were 3 to 12 units per meter squared. End-diastolic left ventricular pressures were elevated, while comparable right-sided pressures were normal. Percutaneous endomyocardial biopsy was done in six patients and performed as an open biopsy in two. Only unspecified signs, such as myocytic hypertrophy or interstitial fibrosis, were found. At present, five of the children have died within two years of diagnosis. One boy has undergone cardiac transplantation success-fully. The two youngest children are still alive. As there is such a poor prognosis, and no alternative specific therapy is known, cardiac transplantation must be discussed with the family at an early stage, emphasizing its consequences.

The long-term natural progression of cardiac rhythm and the incidence of serious arrhythmias in relation to previous procedures and associated heart defects were studied in a group of 76 patients after an arterial switch operation for complete transposition and compared to a group of 24 patients who had undergone intraatrial corrections (Mustard or Senning operation). Standard and 24-hour ambulatory electrocardiograms were reviewed. Mean follow-up was 7.9 years (range 2-16) after an arterial switch and 15.2 years (range 6-26) following the Mustard or Senning procedures. One patient died after an arterial switch from pulmonary hypertension (age 9.9 years), and three patients died suddenly, presumably from arrhythmias, following atrial redirection procedures (ages 13, 18 and 20 years). Symptomatic arrhythmias were not seen after the arterial switch operation. Three patients required pacemaker implantation after atrial redirection, and a further two required medication to control tachyarrhythmias. Survival analysis of sequential electrocardiograms showed a mean maintenance of sinus rhythm during 12.9 years (95% confidence interval 11.4-14.5) after the arterial switch and 9.0 years (7.3-10.7) after atrial procedures (p=0.003). Development of heart rate was significantly different (p=0.001), with higher rates in adolescents after an arterial switch. Twenty-four-hour recordings were abnormal in five of 72 patients following arterial correction, disclosing excessive ventricular extrasystoles in four (three monomorphic, one polymorphic) and a wandering pacemaker in one. After atrial procedures, 11 of 19 were abnormal (p<0.001), with sinus or atrial bradycardia in eight, atrial flutter in two, and monomorphic ventricular tachycardias in one. Abnormal findings on either 12-lead or 24-hour electrocardiograms were seen in 22% of patients following an arterial switch procedure and 83% of patients undergoing atrial redirection (p<0.001). Sinus rhythm, therefore, is preserved longer and arrhythmias are less frequent and less severe after the arterial switch operation than after the Mustard or Senning operations.

To assess the clinical impact of percutaneously implanted balloon expandable endovascular stents on patient management, we reviewed 20 children aged 14 days to 4.8 years (median 1.3 years) with residual vascular obstructions in the immediate postoperative period. Patients included 11 with pulmonary arterial stenosis, five with stenosis of venous pathways after a modified Fontan procedure or bidirectional cavopulmonary anastomosis, and four with a restrictive modified Blalock-Taussig shunt. Placement of the stent was optimal in 18 of 20 patients (24 of 26 Palmaz or Palmaz-Schatz implants). In two patients, rupture of the balloon resulted in malposition of the stent. Reoperation was avoided and symptomatic improvement was noted in 11 of 20 patients (55%), while procedural complications occurred in eight patients. Seven of 10 patients presenting with a low cardiac output syndrome died despite relief of the obstructions. This early experience supports consideration of the application of these devices in the management of significant vascular obstructive lesions in the immediate postoperative period, thus avoiding early reoperation in this profoundly compromised population.

We describe two fetuses presenting with hydrops and tachycardia who were treated by prolonged dosage with procainamide. Initial therapy with digoxin in both had been unsuccessful in controlling the rapid heart rate. The first child was delivered after five weeks of transplacental therapy, and demonstrated Wolff-Parkinson-White syndrome on the second day which was controlled with flecainide. The second fetus required three and a half weeks of intrauterine treatment. Wolff-Parkinson-White syndrome became manifest four days after premature labor at 33 weeks gestation. No tachycardia occurred postnatally and the infant has been well during follow-up. The implications of treatment are discussed.

All infants and children born alive with documented congenital heart disease (excluding those weighing less than 2500 g at birth with a diagnosis of patent arterial duct) within the county of Merseyside between 1979 and 1988 were identified from the combined records of the Liverpool Congenital Malformations Registry and the Cardiac Unit, Royal Liverpool Children‘s Hospital Alder Hey, Liverpool. In total, 1543 cases were disclosed from a live-birth population of 203,880 providing a prevalence rate at birth of 7.57 (95% confidence interval: 7.20–7.96) cases per 1000 livebirths. The overall crude death rate was 18.5% (95% confidence interval: 16.4–20.3). An additional 240 (15.6% [95% confidence interval: 13.8–17.5%]) cases of heart disease not identified by the registry were disclosed from the records of the cardiac unit, demonstrating the unreliability of rates published by monitoring bodies. The annual prevalence rate at birth varied from 6.3 to 9.0 per 1000 livebirths, and seemed to be associated with the impact of new imaging technology. Regional variation was marked (5.3 to 8.9 per 1000 livebirths) and unaccountable in terms of potential morphogenetic mechanism, suggesting inconsistencies in referral of cases. Exclusion of regions of poor ascertainment in the calculation of a revised figure for the prevalence rate at birth suggests that as many as 89 in every 10,000 infants born alive may have structural cardiac anomalies. In conclusion, annual and regional variation of ascertainment in registry studies remains the enemy of an accurate description of the true prevalence rate at birth for congenital heart disease.