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Congenital heart defects (CHD) are referred to in coincidence with any anomaly of anatomic structure of the heart and large vessels. The prognosis of CHD has improved dramatically in th recent 50 years. The number of patients with CHD surviving until adulthood is increasing.
BACKGROUND: Congenital heart defects are generally assumed to have a multifactorial aetiology. We have tested this hypothesis by studying adults with heart defects and their families. METHODS: We identified 1094 patients who survived surgery for major cardiac defects before 1970. We chose individuals with disturbance of situs or segmental connection, with atrioventricular septal defect or with tetralogy of Fallot. After exclusion and non-participation, 727 individuals were traced. Each was visited by an investigator and completed a detailed questionnaire. If possible, all "normal" offspring were examined by a paediatric cardiologist. FINDINGS: The 727 individuals had 393 live offspring. There were 71 miscarriages and five terminated pregnancies. Overall, we found recurrent heart defects in 16 liveborn offspring--a recurrence risk of 4.1%. This result differed significantly from sibling risk (2.1%; p=0.021). More congenital heart defects occurred in the offspring of affected women than in those of affected men (p=0.047); when all malformations (cardiac and non-cardiac) in the offspring were taken into account the excess was more significant (p=0.032). We found an excess of miscarriages in the offspring of affected women (p=0.001). In tetralogy of Fallot, heart defects occurred in seven (3.1%) of 223 offspring, 12 (2.2%) of 539 siblings, five (0.3%) of 1575 second-degree relatives, and eight (0.3%) of 2728 third-degree relatives. INTERPRETATION: Our findings do not support a polygenic basis for all heart defects. Atrioventricular septal defect seems to be a single-gene defect and tetralogy of Fallot a polygenic disorder with a small number of interacting genes. Our data suggest that isolated transposition of the great arteries is a sporadic defect.
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.
Congenital heart defects (CHD) occur in 8 per 1000 live births. If they remain untreated, 70-80% of these patients die in early childhood. With modern diagnostic and treatment procedures, 90% of these patients reach adulthood. Within 8 years following reunification of Germany, it was possible to improve treatment for CHD in former East Germany to West German standards. Based on the experience gained in this process, a plan for improvement of care of Estonian patients with CHD was developed and implemented in the German-Estonian project, "Partnership for the Heart". The main elements of the project were (1) the training of Estonian physicians in Germany, (2) training courses conducted by German and Estonian specialists in Estonia and (3) use of telemedicine for consultation on a continuous basis. During the project 15 Estonian patients underwent cardiac surgery and/or catheter interventions performed by a joint team of German and Estonian specialists. The infant mortality due to CHD in Estonia fell by 28% during the project period. Key techniques of cardiac surgery are now being employed in Estonia without outside support, indicating the success of the training program and the long-term improvements to cardiac health care in Estonia. The total project costs were 314,252 Euro (euro), which is 50% lower than the estimated cost of treating the 15 patients abroad in Western Europe. The structure of "Partnership for the Heart" and the modified self-sufficiency model of medical care have not only produced results for Estonia but can be taken as a template for future bilateral health projects with other transition countries and for other fields of medical specialisation, and thus might aid a European health policy.
STUDY OBJECTIVE: The aim was to make an epidemiological study of major congenital heart defects and to make comparisons between groups of heart defects regarding different epidemiological variables. DESIGN: The cases with congenital heart defects were identified from two Swedish registries: the Registry of Congenital Malformations and the Child Cardiology Registry. A classification with nine groups of heart defects is proposed. SETTING: This was a national survey in Sweden during the period 1981-1986. The total number of cases reported during the six years was 1605. Cases that presented a patent ductus arteriosus only and a birthweight below 2500 g were excluded. MEASUREMENTS AND MAIN RESULTS: The prevalence at birth was 2.8 per 1000. When cases with a chromosomal anomaly were excluded, no maternal age effect was observed except a possible under-risk for women above 40 years. The risk for a heart defect seems to increase with increasing parity independent of age. A higher risk was also observed among twin infants compared with singletons although no specificity in cardiac malformation type appeared. Sex ratio, the tendency for having an associated extracardiac malformation, and the proportion of isolated v non-isolated cardiac defects differed between the different groups of heart malformations. CONCLUSIONS: The differences observed between groups of defects indicate different aetiologies and show that this classification may be suitable for further analyses of congenital heart defects.
OBJECTIVES: To provide evidence to inform policy decisions about the most appropriate newborn screening strategy for congenital heart defects, identifying priorities for future research that might reduce important uncertainties in the evidence base for such decisions. DATA SOURCES: Electronic databases. Groups of parents and health professionals. REVIEW METHODS: A systematic review of the published medical literature concerning outcomes for children with congenital heart defects was carried out. A decision analytic model was developed to assess the cost-effectiveness of alternative screening strategies for congenital heart defects relevant to the UK. A further study was then carried out using a self-administered anonymous questionnaire to explore the perspectives of parents and health professionals towards the quality of life of children with congenital heart defects. The findings from a structured review of the medical literature regarding parental experiences were linked with those from a focus group of parents of children with congenital heart defects. RESULTS: Current newborn screening policy comprises a clinical examination at birth and 6 weeks, with specific cardiac investigations for specified high-risk children. Routine data are lacking, but under half of affected babies, not previously identified antenatally or because of symptoms, are identified by current newborn screening. There is evidence that screen-positive infants do not receive timely management. Pulse oximetry and echocardiography, in addition to clinical examination, are alternative newborn screening strategies but their cost-effectiveness has not been adequately evaluated in a UK setting. In a population of 100,000 live-born infants, the model predicts 121 infants with life-threatening congenital heart defects undiagnosed at screening, of whom 82 (68%) and 83 (69%) are detected by pulse oximetry and screening echocardiography, respectively, but only 39 (32%) by clinical examination alone. Of these, 71, 71 and 34, respectively, receive a timely diagnosis. The model predicts 46 (0.5%) false-positive screening diagnoses per 100,000 infants with clinical examination, 1168 (1.3%) with pulse oximetry and 4857 (5.4%) with screening echocardiography. The latter includes infants with clinically non-significant defects. Total programme costs are predicted of pound 300,000 for clinical examination, pound 480,000 for pulse oximetry and pound 3.54 million for screening echocardiography. The additional cost per additional timely diagnosis of life-threatening congenital heart defects ranges from pound 4900 for pulse oximetry to pound 4.5 million for screening echocardiography. Including clinically significant congenital heart defects gives an additional cost per additional diagnosis of pound 1500 for pulse oximetry and pound 36,000 for screening echocardiography. Key determinants for cost-effectiveness are detection rates for pulse oximetry and screening echocardiography. Parents and health professionals place similar values on the quality of life outcomes of children with congenital heart defects and both are more averse to neurological than to cardiac disability. Adverse psychosocial effects for parents are focused around poor management and/or false test results. CONCLUSIONS: Early detection through newborn screening potentially can improve the outcome of congenital heart defects; however the current programme performs poorly, and lacks monitoring of quality assurance, performance management and longer term outcomes. Pulse oximetry is a promising alternative newborn screening strategy but further evaluation is needed to obtain more precise estimates of test performance and to inform optimal timing, diagnostic and management strategies. Although screening echocardiography is associated with the highest detection rate, it is the most costly strategy and has a 5% false-positive rate. Improving antenatal detection of congenital heart defects increases the cost per timely postnatal diagnosis afforded by any newborn screening strategy but does not alter the relative effects of the strategies. An improvement of timely management of screen positive infants is essential. Further research is required to refine the detection rate and other aspects of pulse oximetry, to evaluate antenatal screening strategies more directly, and to investigate the psychosocial effects of newborn screening for congenital heart defects.
OBJECTIVE: We sought to evaluate the association between first trimester nuchal translucency measurement and the risk for major congenital heart defect in chromosomally normal fetuses. STUDY DESIGN: First trimester (10 weeks 4 days of gestation to 13 weeks 6 days of gestation) nuchal translucency was obtained in a large prospective multicenter National Institute of Child Health and Human Development study for Down syndrome prediction. The study, which was conducted between May 1998 and December 2000, was restricted to singleton pregnancies. Gestational age was determined by crown rump length measurements. Perinatal outcomes were determined and included the frequency of major congenital heart defect, which was defined as those cases that potentially could require surgery, intensive medical therapy, or prolonged follow-up time. Logistic regression analysis was used to determine whether nuchal translucency was a significant predictor of congenital heart defect. RESULTS: There were 8167 chromosomally normal pregnancies, of which 21 cases of major congenital heart defect were identified at follow-up examination (incidence, 2.6/1000 pregnancies). The risk of congenital heart defect rose with increasing nuchal translucency measurements. The mean nuchal translucency value for the normal and congenital heart defect groups were 1.5 mm and 1.9 mm, respectively (P = .05). With a nuchal translucency measurement of < 2.0 mm, the incidence of congenital heart defect was 13 of 6757 pregnancies (1.9 of every 1000 pregnancies). At 2.0 to 2.4 mm, the incidence was 5 of 1032 pregnancies (4.8 of every 1000 pregnancies). At 2.5 to 3.4 mm, the incidence was 2 of 335 pregnancies (6.0 of every 1000 pregnancies). At > or = 3.5 mm, the incidence was 1 of 43 pregnancies (23 of every 1000 pregnancies). Logistic regression analysis confirmed that nuchal translucency was associated significantly with congenital heart defect (odds ratio, 2.1; 95% CI, 1.4-3.1; P = .0004). CONCLUSION: Increased first trimester nuchal translucency measurement was associated with a higher risk of major congenital heart defect in chromosomally normal pregnancies. The practical implications of our findings are that patients with unexplained elevations of nuchal translucency may need referral for a fetal echocardiogram.
OBJECTIVE: To assess the prevalence and patterns of congenital heart defects in infants requiring hospital admission in a defined population and to determine the differences in ethnic groups. DESIGN: A three year retrospective analysis of all hospital admissions for paediatric congenital heart defects in a single centre. SETTING: Tertiary referral centre for infant cardiac services in the West Midlands region, United Kingdom. PATIENTS AND METHODS: Indian, Pakistani, Bangladeshi and other individuals from the Indian subcontinent constitute 5.8% of the total population of the West Midlands region. Some 9% of infants, however, are Asian because of a high birth rate. All infants with confirmed congenital heart defects resident in this region who required hospital admission between April 1990 and March 1993 were classified as Asians and non-Asian, mainly white, infants. RESULTS: Of 1111 infants with congenital heart defects born in the West Midlands and admitted to the hospital, 17.0% were Asian, significantly more than the percentage of Asian infants in the population (P < 0.0001). Asian infants had a higher proportion of complex congenital heart disease (7% v 2.1%, P < 0.001), whereas coarctation of the aorta was more common in non-Asian (3% v 9.1%, P = 0.003). Persistent arterial duct seemed to be more common in Asian children (16% v 10%, NS), but this group included preterm infants admitted for duct ligation. There was no significant difference between the two groups in the other nine categories of congenital heart defects. CONCLUSIONS: The estimated prevalence of congenital heart defects requiring hospital admission was higher in Asian infants than in non-Asian (9.45 per 1000 v 4.56 per 1000, P < 0.0001). Complex congenital heart defects were more common in Asian infants whereas coarctation of the aorta was more common in non-Asian.
OBJECTIVE: To analyze the frequency and prevalence of congenital heart defects in a tertiary care center for children with heart diseases. METHODS: We carried out an epidemiological assessment of the first medical visit of 4,538 children in a pediatric hospital from January 1995 to December 1997. All patients with congenital heart defects had their diagnoses confirmed at least on echocardiography. The frequency and prevalence of the anomalies were computed according to the classification of sequential analysis. Age, weight, and sex were compared between the groups of healthy individuals and those with congenital heart defects after distribution according to the age group. RESULTS: Of all the children assessed, 2,017 (44.4%) were diagnosed with congenital heart disease, 201 (4.4%) with acquired heart disease, 52 (1.2%) with arrhythmias, and 2,268 (50%) were healthy children. Congenital heart diseases predominated in neonates and infants, corresponding to 71.5% of the cases. Weight and age were significantly lower in children with congenital heart defects. Ventricular septal defect was the most frequent acyanotic anomaly, and tetralogy of Fallot was the most frequent cyanotic anomaly. CONCLUSION: Children with congenital heart defects are mainly referred during the neonatal period and infancy with impairment in gaining weight. Ventricular septal defect is the most frequent heart defect.
Congenital heart defects are common in humans, but the underlying basis for these defects is not well understood. It has been clear that abnormal heart development is at the root of these diseases, but the genes involved have remained elusive until recently. This review focuses on recent advances in our understanding of mammalian heart formation, and how some of these processes, when disrupted, lead to congenital heart defects.
CHD-specific emergencies may be managed quite effectively in the prehospital environment. The key to successful prehospital management of CHDs is identifying the cardiac anomaly, obtaining an effective history and physical assessment, and providing supportive care. When obtaining a history, it is important to remember that parents know their children and their children's diseases very well. An EMS provider who ignores information from a parent is doomed to failure. Realizing that most EMS providers are not well-versed in the various CHDs and are not likely to have a great deal of experience in working with CHD patients, conferring with medical control prior to initiation of any treatments is strongly encouraged. Finally, remember that patients with CHDs are sick and have traditionally been sick for quite a while. Because of the chronic illness, it is easy to focus on the congenital defect when called to the scene for an ill child and neglect the potential for a noncardiac-related pathology. Although the most commonly seen congenital heart defects have been reviewed here, there are others that have not been addressed. Garnering an understanding of each individual defect is not nearly as important as understanding the difference between cyanotic and acyanotic defects. Prehospital care for the CHD patient is primarily supportive, but, in certain cases, may require substantial intervention. EMS providers should not be concerned with diagnosing specific defects, but should be aware of the global effects that various defects have on normal perfusion. EMS providers' comprehension of the pathophysiology of CHDs and prompt actions will play a vital role in the outcome of the acutely ill CHD patient.
BACKGROUND: Ventricular arrhythmias after repair of congenital heart defects are a common finding and possibly contribute to sudden death in these patients. Optimal antiarrhythmic management has not yet been defined. METHODS AND RESULTS: The study population consisted of 16 patients in whom ventricular arrhythmias occurred 11 to 42 years after complete surgical repair of congenital heart defects. Fifteen patients had a history of symptomatic sustained or nonsustained ventricular tachycardia, and 1 had frequent nonsustained ventricular tachycardia. The diagnostic mapping procedure to identify the origin of the arrhythmia included pace mapping during sinus rhythm, activation mapping, and pacing interventions during ventricular tachycardia. Catheter ablation was carried out by means of radiofrequency energy in the temperature-controlled mode. The follow-up period was 6 to 33 months (mean, 16 months). A right ventricular origin of the tachycardia in the surgically corrected area could be determined in all patients. Catheter ablation was carried out without complications. Immediate noninducibility was achieved in 15 of the 16 patients. One patient in whom the tachycardia was again inducible at repeat stimulation 1 week later was successfully treated with amiodarone. Eleven patients were taken off antiarrhythmic drugs. During follow-up, none of them had a recurrence of the tachycardia that had been ablated. CONCLUSIONS: In patients with symptomatic or frequent ventricular tachycardia late after complete surgical repair of congenital heart defects, catheter ablation by means of radiofrequency energy is feasible and safe and thus might be taken into consideration for these patients. Short-term follow-up results are promising.
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Maximal treadmill tests following the Bruce protocol were performed by 830 children with heart defects and the endurance times compared with normal values from 327 children seen in the same clinic because of normal murmurs and from 388 normal children randomly selected and tested in the schools. When values in the normal clinic children were used as the reference, only 21 percent of the patients with heart defects had endurance times below the 10th percentile line. This line was 14 percent higher in the normal school children, and 47 percent of the patient group had values below the 10th percentile when values in the school children were used as the reference. Maximal heart rate in children with heart defects was almost always in the normal range (180 to 210 beats/min) except in patients with cyanosis or severe valve disease and, when encouraged to continue exercising, even these children had a mean maximal heart rate of 175 beats/min. When comparing the exercise capacity of children with heart defects with that of normal children, the source of the normal children is important; body build needs to be considered, as well as physical activity habits. Clinic patients without heart defects probably serve as a better normal control group than children obtained from the school system. Maximal exercise tests do not necessarily distinguish between children with mild or severe heart disease. Only children with lesions causing cyanosis or children with obviously severe disease have consistent reductions in exercise capacity.
OBJECTIVE: To evaluate whether pregnancies with infants affected by congenital heart defects are associated with adverse obstetric and perinatal outcome. STUDY DESIGN: In a prospective population-based cohort study from Sweden (1992-2001), 6346 singleton pregnancies with infants affected by congenital heart defects were, after suitable adjustments, compared to all delivered women. RESULTS: The prevalence of cardiovascular defects was 9.1 per 1000 births. Among them, mothers of 6346 infants (71%) had information on maternal smoking habits and maternal height and weight in early pregnancy that enabled the calculation of BMI. All cases with known chromosomal abnormalities and/or maternal pre-existing diabetes were excluded. Eighty-four percent (n=5338) had an isolated cardiovascular defect. Severe types occurred in 21.7% (n=1378). In the group of pregnancies with infants affected by congenital heart defects as compared to all delivered women, there was an increased risk of the following outcomes (adjusted OR (95%CI)): pre-eclampsia (1.21 (1.06-1.37)), cesarean section (1.91 (1.79-2.03)), instrumental delivery (1.21 (1.10-1.34)), pre-term delivery (2.58 (2.39-2.79)), small-for gestational age (1.96 (1.77-2.16)), meconium aspiration (1.51 (1.28-1.77)), and fetal distress (1.38 (1.17-1.63)). CONCLUSIONS: Pregnancies with infants affected by congenital heart defects are associated with several obstetric and neonatal complications.
The effects of cardiac surgery on patients with congenital heart defects and the subsequent development of scoliosis were studied. A group of 998 patients with congenital heart defects who were less than sixteen years old were operated on at the Mayo Clinic during the ten-year period 1950 through 1959. Standing roentgenograms of the spine were made of 377 of the patients ten years or more after surgery. The ages of the patients at follow-up ranged from ten years and seven months to thirty-five years and three months, with a mean age of twenty-one years and four months. The average length of follow-up was fourteen years and eleven months. Of the 377 patients, thirty-two (8.5 per cent) had curves greater than 20 degrees. The female:male ratio of patients with congenital heart defects was 1:1, whereas of those who developed scoliosis it was 5:3. There was no correlation between scoliosis and the following: patient's sex, cardiac abnormality, size or side of the heart, side of the aortic arch, presence of cyanosis, age at surgery, number and type of surgical incisions, number and side of ribs removed, or number and type of surgical procedures.
OBJECTIVE: To assess the frequency of malnutrition in children with congenital heart defects in a hospital outpatient setting. METHODS: One hundred and fifty-two children with congenital heart defects (patients), and an equal number of children with innocent cardiac murmurs (controls) attending the Pediatric Cardiology Outpatient Clinic at Sultan Qaboos University Hospital, Muscat, Oman from 1997 to 1998 were prospectively studied. Weight, height and head circumference were used for evaluation of nutritional status. Patients and controls were categorized into acute malnutrition (weight <3rd percentile for age, and height >3rd centile), and chronic malnutrition (weight and height <3rd centile), based on the National Centre for Health Statistics standards. Children with symptomatic congenital heart defects (Group I, number = 73) were also compared with those without symptoms (Group II, number = 79). RESULTS: The study patients showed a higher frequency of both acute (27%) and chronic (24%) malnutrition (p<0.01). Children in Group I had a significant reduction in weight (p<0.01), height (p=0.02) and head circumference (p<0.01) compared to controls, however for those in Group II the differences were not significant. Acute malnutrition was higher in both groups, 31% (p<0.01) and 16% (p=0.04), whilst chronic malnutrition was significantly higher only in Group I, 31% (p<0.01). Infants in Group I were more frequently affected (33/45) compared to older children (13/28; p=0.02). CONCLUSION: Malnutrition remains a problem among children with congenital heart defects, especially in those with either heart failure or cyanosis, and symptomatic infants are the worst affected. Greater attention is required in the dietary management, early diagnosis and intervention to restore normal growth.