Major Congenital Heart Disease Research Articles

Diagnostic algorithm for cyanotic heart disease

When heart disease presents during the neonatal period or early infancy the most common manifestations are tachypnoea with feeding difficulties with or without cyanosis, or isolated central cyanosis. However, even major congenital heart disease may initially fail to produce such clinical features during the first few days of life. Major heart disease need not be associated with a murmur or a heart murmer may be the only early manifestation of a complex anomaly. When major heart disease is present in the absence of cyanosis the most frequent diagnoses include:

Management and outcome of low birth weight neonates with congenital heart disease

In 100 consecutive neonates with birth weights ≤2500 gm (range, 540 to 2500 gm; median, 2200 gm), major congenital heart disease (excluding patent ductus arteriosus, isolated atrial septal defect, and ventricular septal defect) was diagnosed between January 1987 and January 1991; 46 had ductus-dependent lesions. Of the 100 neonates, 30 had genetic aberrations or significant associated congenital anomalies. The four most common cardiac diagnoses were tetralogy of Fallot with or without pulmonary atresia (n = 16); coarctation of the aorta (n = 12); transposition of the great arteries (n = 11); and common atrioventricular canal (n = 11). The hospital survival rate for the entire group of 100 neonates was 70%. The patients were separated into three groups on the basis of the time of intervention. Group 1 (early intervention) included 62 infants. These neonates (including 31 with ductus-dependent lesions) had surgical or catheter intervention during the initial hospitalization (median age, 9 days), all at weights ≤2500 gm. The hospital survival rate was 81% (50/62); survival rates for palliation (78%, 18/23) and for correction (82%, 32/39) were similar. There were 26 neonates in group 2 (late intervention). These neonates did not have surgical intervention during the initial hospitalization. All were managed medically; survivors were discharged and had surgical procedures later (at a median age of 4.3 months). Six neonates (23%) died during medical management; all 20 survivors returned and had surgical procedures, with 90% survival. Overall survival rate for this group was 69% (18/26). The remaining 12 patients (group 3) had complicating features that precluded intervention; none survived. On the basis of these results, we conclude that early intervention, even with corrective surgery, can be performed in low birth weight neonates with an acceptable mortality rate. Prolonged medical therapy to achieve further weight gain did not appear to improve the survival rate. (J P ediatr 1994;124:461-6)

Prognosis in Fetal Diaphragmatic Hernia

The reported mortality for prenatally detected congenital diaphragmatic hernia is high. Polyhydramnios and presentation in early pregnancy have been suggested as high-risk factors adversely affecting outcome. We retrospectively reviewed 55 cases of congenital diaphragmatic hernia diagnosed prenatally in our unit. There was an overall mortality of 73%. The mortality in cases with presentation before 25 weeks' gestation was 74%, if the cases resulting in termination of pregnancy are excluded, compared with a mortality of 60% in those seen after this gestational age. Underdevelopment of left-sided cardiac structures was found to be a helpful prognostic factor. We were unable to confirm the predictive nature of hydramnios. Associated chromosomal anomalies were found in two fetuses and major congenital heart disease in nine. Although diagnosis before 25 weeks' gestation is associated with a higher mortality than in cases detected later, it is not universally fatal. If congenital heart disease and chromosomal anomalies are excluded and there is little or no evidence of left heart underdevelopment, the odds for survival will improve. This should be taken into account when the management of these cases is planned.

Evaluation of prenatal diagnosis of congenital heart disease

Prenatal diagnosis performed by fetal ultrasound scan is now a routine part of antenatal care in many countries. That an increasing number of fetal anomalies may be detected on prenatal ultrasound is beyond doubt. What is possible is not, however, always practical, especially when congenital heart diseases (CHDs) are concerned and when whole antenatal populations are screened rather than high-risk groups. Thanks to our registry of congenital anomalies, a retrospective study was undertaken to evaluate the prenatal detection of CHDs by ultrasound scan in 131,760 consecutive pregnancies of known outcome from 1979 to 1988. Only 84 out of 912 malformed fetuses with CHDs without chromosomal anomalies were detected (9.2 per cent). The sensitivity of detection varied from around 38 per cent for malformations such as hypoplastic left heart and single ventricle to around 5 per cent for ventricular and atrial septal defects. The effectiveness of the detection of some forms of major congenital heart disease has increased dramatically since 1987 by including routine examination of the four-chamber view and of the inflow and outflow tracts of the fetal heart. Our results stress the need to obtain a definite clear four-chamber view, to perform scans at > or = 18 weeks of gestation, and to train sonographers in order to improve the prenatal detection of CHDs.

Screening for congenital heart disease prenatally. Results of a 2 1/2-year study in the South East Thames Region.

To assess the efficacy of four chamber view examination, during routine obstetric scanning, in the prenatal detection of fetuses with congenital heart disease. Prospective observational study. Ten obstetric ultrasound units in the South East Thames Region. All pregnant women attending for routine obstetric ultrasound examination. Ultrasonographers performing routine ultrasound examinations were taught to obtain, and correctly interpret, the four chamber view of the fetal heart. When this view could not be achieved adequately, an attempt was made to identify a reason for failure and, if possible, to arrange a repeat scan. All suspected abnormalities were referred to a specialized unit. Numbers of true abnormalities detected or overlooked, and the number in whom abnormality was suspected incorrectly. Over a 2.5-year period, 69% of the known number of cardiac lesions associated with an abnormality of the four chamber view were detected prenatally during the routine obstetric scan, 10% were identified as a result of referal for other high-risk factors and 21% were overlooked. The overall positive predictive value in the 10 obstetric units was 36%. Prenatal screening for some forms of major congenital heart disease is possible by including examination of the four chamber view of the fetal heart in routine obstetric scans. However, there are important limiting factors that will influence the success of abnormality detection and must be taken into account if screening is to be effective nationwide.

Prognosis in fetal diaphragmatic hernia

The reported mortality for prenatally detected congenital diaphragmatic hernia is high. Polyhydramnios and presentation in early pregnancy have been suggested as high-risk factors adversely affecting outcome. We retrospectively reviewed 55 cases of congenital diaphragmatic hernia diagnosed prenatally in our unit. There was an overall mortality of 73%. The mortality in cases with presentation before 25 weeks' gestation was 74%, if the cases resulting in termination of pregnancy are excluded, compared with a mortality of 60% in those seen after this gestational age. Underdevelopment of left-sided cardiac structures was found to be a helpful prognostic factor. We were unable to confirm the predictive nature of hydramnios. Associated chromosomal anomalies were found in two fetuses and major congenital heart disease in nine. Although diagnosis before 25 weeks' gestation is associated with a higher mortality than in cases detected later, it is not universally fatal. If congenital heart disease and chromosomal anomalies are excluded and there is little or no evidence of left heart underdevelopment, the odds for survival will improve. This should be taken into account when the management of these cases is planned.

Sonography of the fetal heart: findings on the four-chamber view.

The normal and pathologic sonographic appearances of the fetal heart on four-chamber views are reviewed. Performed correctly, the four-chamber view is the best method of examining the complex cardiac anatomy of the small fetal heart and of detecting major congenital heart disease.

Necrotizing enterocolitis in term infants

Nine term infants developed necrotizing enterocolitis (NEC) at a mean age of \(3{\raise0.5ex\hbox{$\scriptstyle 3$}\kern-0.1em/\kern-0.15em\lower0.25ex\hbox{$\scriptstyle 4$}}\) months. In six, NEC developed following severe diarrhea. One infant had major congenital heart disease. Two were in apparently good health before developing rapidly progressing NEC. Two infants died before operation was feasible, one survived without an operation, and only 1 of 6 infants survived following surgical treatment. Awareness that NEC can occur in term infants may enable early diagnosis and treatment and may reduce the high mortality associated with this uncommon disease.

Familial recurrence of congenital heart disease in a prospective series of mothers referred for fetal echocardiography

Fetal echocardiography can ascertain, at an early stage in pregnancy, recurrences of congenital heart disease (CHD) in mothers with a family history of CHD. In 1,021 mothers referred for this reason, 20 recurrences were found; 17 occurred when there had been 1 previously affected child, and 3 when there had been 2 previously affected children. No recurrences were found in the 41 cases in which a parent had CHD. The overall recurrence rate was 1 in 52 with a previously affected child and 1 in 10 with 2 previously affected children. However, certain forms of CHD recurred much more frequently than others. Aortic valve atresia was associated with a recurrence rate of 1 in 28, coarctation of the aorta at a rate of 1 in 15, complex CHD at a rate of 1 in 11 and truncus arteriosus at 1 in 13. These findings are inconsistent with previous family studies; this may be due to more complete ascertainment, particularly of major lesions, possibly over-looked by postnatal family studies because of fetal loss. Alternatively, the availability of prenatal diagnosis may be producing an increase in family size after major CHD. The results support current doubts on the polygenic theory of inheritance for all forms of CHD.

Pulsed Doppler flow characteristics of ductus arteriosus in infants with associated congenital anomalies of the heart or great arteries

Pulsed Doppler echocardiography (PDE) from the suprasternal approach was used to assess flow characteristics of ductus arteriosus (DA) in 145 infants (aged 1 day to 6 months) with major congenital heart disease. Direct ductal Doppler interrogation was possible in 138 patients and serial studies before and after medical treatment were performed in 28 infants. According to pulmonary artery pressure and associated heart lesions, 3 ductal shunting patterns were identified. An isolated left-to-right shunt, observed in isolated DA or in right ventricular outflow tract obstruction, was characterized by a continuous flow with a peak velocity in late systole. An isolated right-to-left shunt, observed in persistent fetal circulation and aortic arch abnormalities, was characterized by a continuous flow with a peak velocity in early systole. In patients with a bidirectional ductal shunt, the right-to-left shunt always occurred in systole and the left-to-right shunt began in late systole and extended into diastole. A systolic right-to-left shunt always corresponded to the presence of significant pulmonary hypertension. Ductal flow changes could be documented after prostaglandin E1 therapy in patients with ductus-dependent heart disease or after tolazoline therapy in patients with persistent fetal circulation. Thus, PDE with direct ductal Doppler interrogation is an important complement to the echocardiographic evaluation of DA. It is a safe noninvasive approach to ductal shunt and permits convenient evaluation of the effects of drugs on pulmonary artery resistance (tolazoline) and ductal patency (prostaglandin E1).

Birthweight of infants with congenital heart disease.

A subnormal birth weight distribution was noted in a population of infants seen during the first year of life for major congenital heart disease (CHD). When arranged according to cardiac diagnostic categories, 17 of the 21 major cardiac lesions were associated with subnormal birth weight distribution. Major extracardiac anomalies present in 19.9% of all infants appeared not to influence the birth weight distributions of either the total population of 19 of 21 cardiac lesion categories. An increased incidence (6.1%) of small-for-dates infants was observed in the study population. Extra-cardiac anomalies occurred in 28% of the small-for-dates infants. Survival to 1 year of age was 42.8% for the total population with CHD and 49.2% in the small-for-dates group.

Bleeding disorders due to platelet dysfunction.

Abnormalities of platelet function can result in defective hemostasis and a prolonged bleeding time in spite of a normal platelet count. Platelet function tests including platelet adhesiveness, platelet aggregation to adenosine diphosphate (ADP), collagen, and thrombin, clot retraction, and platelet factor 3 (PF3) release were performed in 16 patients who had mild to moderately severe bleeding diathesis. Hereditary platelet functional diseases which are reported include von Willebrand's disease, ADP release defect, PF3 release defect, and Glanzmann's thrombasthenia. Platelet dysfunction is described in association with the following diseases: connective tissue disorders, glycogen storage diseases, biliary cirrhosis, disseminated lupus erythematosus, thalassemia major, streptococcal infection, intravascular coagulation, and acyanotic congenital heart disease. A tentative classification of hereditary and acquired disorders of platelet function is presented.