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OBJECTIVES: Birth defects occur in all ethnic groups, remaining an important world-wide cause of perinatal and infant morbidity. This contributes greatly to an excess of health care dollars allocated to the care and repair of those affected. This is especially true when those affected live in remote geographical locations. STUDY DESIGN: A chart review of 2567 live births of children of Inuit parents residing in Arctic Quebec (Nunavik) and on Baffin Island (Nunavut) between 1989 and 1994 (five years) was carried out compared to rates of anomalies of the Alberta Congenital Anomalies Surveillance System (ACASS). RESULTS: Birth defects were higher in the Inuit sample in nearly every major ICD-9 category with the exception of neural tube defects, eye anomalies and chromosome abnormalities. (Total: 99.7/1000 Vs 51.5/1000; OR 1.93 95% CI 1.7-2.3). Congenital heart defects were significantly increased 22.9/1000 Vs 5.6/1000, with an OR of 4.18 (95% CI 3.2-5.4) in the ICD-9 category 745. In particular, ventricular septal defects (VSDs) and atrial septal defects (ASDs) (OR 4.9 CI 3.5-6.9 and 4.6 CI 2.9-7.2) were frequent. CONCLUSIONS: A high rate of heart defects was an important contributor to the nearly two times rate of total birth defects in the Inuit compared to the ACASS. Further study should be carried out to determine the contributing factors. Genetic predisposition to specific heart defects, and a diet low in folate and vitamin A are considerations. The use of alcohol may exacerbate vitamin status in pregnancy. Optimizing vitamin status in the periconceptional period may reduce the rate of birth defects.
BACKGROUND: In selected cases, minimally-invasive approaches are favoured for the correction of congenital heart defects with regard to better cosmetic results. METHODS: Between July 1999 and April 2001, 25 children (9 male; mean age 5.8 +/- 4.1 years; mean weight 19.6 +/- 12.6 kg) were operated on using minimally invasive approaches. Diagnoses were: ASD (n = 19), VSD (n = 2), ostium primum defect (n = 3) and Tetralogy of Fallot (n = 1). Female patients with ASD underwent a limited right anterolateral thoracotomy. A ministernotomy was chosen in male patients, in patients under 6 months of age, and in patients with malformations other than ASD. Cannulation was always performed via the chest incision. RESULTS: There were no perioperative complications. Mean operation time was 3.23 +/- 0.89 h. Twelve patients were extubated immediately after surgery, mean ventilation time in the others was 12.1 +/- 11.7 h. Mean ICU stay and hospital stay were 1.5 +/- 0.75 days and 8.3 +/- 2.2 days, respectively. Follow-up (mean 4.8 +/- 4.6 months) was uneventful. CONCLUSIONS: Intracardiac repair of some congenital heart defects can be performed safely and effectively via minimally-invasive approaches. Indications are expanding towards more complex defects. Exposure for precise repair is good, additional incisions can be avoided, and cosmetic results have been excellent.
OBJECTIVES: This study sought to define 1) the risk of sudden death after operation for common congenital heart defects; and 2) factors associated with an increased risk of sudden death. BACKGROUND: Although the prognosis for patients with congenital heart defects is improved by surgical treatment, they remain at a well recognized but poorly defined risk of late sudden death. METHODS: This population-based study evaluated all patients < 19 years old undergoing surgical treatment of common forms of congenital heart disease in the state of Oregon between 1958 and 1996. Patients were identified retrospectively through 1958, with prospective biannual follow-up beginning in 1982. The incidence and cause of late sudden death were evaluated for 3,589 patients surviving operation for the following defects: atrial, ventricular and atrioventricular septal defects; patent ductus arteriosus; pulmonary stenosis; aortic stenosis; coarctation of the aorta; tetralogy of Fallot; and D-transposition of the great arteries. RESULTS: There were 41 unexpected late sudden deaths during 45,857 patient-years of follow-up, an overall event rate of 1/1,118 patient-years. Thirty-seven of the 41 late sudden deaths occurred in patients with aortic stenosis, coarctation, transposition of the great arteries or tetralogy of Fallot, an event rate of 1/454 patients-years. In contrast, only four sudden deaths occurred among the other defects, an event rate of 1/7,154 patient-years (p < 0.01). The risk of late sudden death increased incrementally 20 years after operation for tetralogy of Fallot, aortic stenosis and coarctation. However, risk was not dependent on patient age at operation or surgical era. The causes of sudden death were arrhythmia in 30 patients, circulatory (embolic or aneurysm rupture) in 7 and acute heart failure in 4. CONCLUSIONS: The risk of late sudden death for patients surviving operation for common congenital heart defects is 25 to 100 times greater than an age-matched control population. This increased risk is primarily represented by patients with cyanotic or left heart obstructive lesions. The risk of sudden death appears to be time dependent, increasing primarily after the second postoperative decade.
OBJECTIVE: The preventive efficacy of the periconceptional use of multivitamins is well established for neural tube defects, much less so for other birth defects. We conducted a population-based, case-control study to assess the effects of multivitamin use on the risk for conotruncal defects, a group of severe heart defects that includes transposition of the great arteries, tetralogy of Fallot, and truncus arteriosus. METHODS: From the population-based Atlanta Birth Defects Case-Control Study, we identified 158 case infants with conotruncal defects and 3026 unaffected, randomly chosen control infants, born from 1968 through 1980 to mothers residing in metropolitan Atlanta. Periconceptional multivitamin use was defined as reported regular use from 3 months before conception through the third month of pregnancy. We present the results of the crude analysis, because the multivariate model yielded essentially identical results. RESULTS: Mothers who reported periconceptional multivitamin use had a 43% lower risk of having infants with conotruncal defects (odds ratio [OR], 0.57; 95% confidence interval [CI], 0.33 to 1.00) than did mothers who reported no use. The estimated relative risk was lowest for isolated conotruncal defects (OR, 0.41; 95% CI, 0.20 to 0.84) compared with those associated with noncardiac defects (OR, 0.91; 95% CI, 0.33 to 2.52) or a recognized syndrome (OR, 1.82; 95% CI, 0.31 to 10.67). Among anatomic subgroups of defects, transposition of the great arteries showed the greatest reduction in risk (OR, 0.36; 95% CI, 0.15 to 0.89). CONCLUSIONS: Periconceptional multivitamin use is associated with a reduced risk for conotruncal defects. These findings could have major implications for the prevention of these birth defects.
OBJECTIVE: To determine long-term survival and the cause of death after repair of one of eight congenital heart defects in childhood. DESIGN: Cohort study. SETTING: General community. PARTICIPANTS: All Oregon residents with one of eight congenital heart defects, which was repaired surgically between 1958 and 1989 when the patient was aged 18 years or younger, including (1) tetralogy of Fallot; (2) isolated ventricular septal defect; (3) isolated atrial septal defect; (4) coarctation of the aorta; (5) aortic valvular stenosis; (6) pulmonary valvular stenosis; (7) transposition of the great arteries; and (8) patent ductus arteriosus. Follow-up of this cohort of 2701 individuals was obtained from 94%. MAIN OUTCOME MEASURE: Mortality from cardiac and noncardiac causes. RESULTS: Age at surgery and operative mortality have decreased significantly over the last 30 years. Late cardiac mortality at 25 years after surgery was 5% for tetralogy of Fallot and isolated ventricular septal defect, 10% for coarctation of the aorta, 17% for aortic stenosis, 5% for pulmonic stenosis, and less than 1% for patent ductus arteriosus; there were no late cardiac deaths after atrial septal defect repair. For transposition, late cardiac mortality was 15% at 15 years after the Mustard operation and was 2% at 10 years after the Senning operation. CONCLUSION: Surgical repair of most congenital heart defects is associated with lingering cardiac mortality, particularly for aortic stenosis, coarctation, and transposition.
OBJECTIVE: The purpose of this study was to evaluate the detection rate of early fetal echocardiography and the in utero development of congenital heart defects (CHD). METHODS: Cases were selected from all singleton pregnancies between 1997 and 2003 in which detailed fetal 2-dimensional and color-coded Doppler echocardiography was performed in our prenatal unit between 11 weeks' and 13 weeks 6 days' gestation; 2165 cases with complete outcome parameters were analyzed. RESULTS: During this study period, CHD were diagnosed in 46 fetuses. Between 11 and 13 weeks' gestation, 29 CHD were diagnosed (11 weeks, 9 cases; 12 weeks, 8 cases; and 13 weeks, 12 cases); 9 CHD were found in the second trimester and 2 in the third trimester. The in utero detection rate of fetal echocardiography was 86.96% (n = 40). Six additional CHD (13.04%) were detected postnatally. The spectrum of detected CHD changed with advancing gestational age and was different from the postnatal detected heart defects. CONCLUSIONS: Early fetal echocardiography is feasible and allows the detection of most CHD. Congenital heart defects vary in appearance at different stages of pregnancy and may evolve in utero with advancing gestational age. Therefore, early fetal echocardiography should always be followed by echocardiography at mid gestation.
INTRODUCTION: We studied patients with congenital heart defects born in 1975 and followed by our institution. We were interested in the outcome of these patients at the age of 20 years with regard to professional status, physical activity and psychosocial aspects. Furthermore, we investigated the handover from the paediatric to the adult cardiologist as well as the information level concerning antibiotic prophylaxis against bacterial endocarditis. METHODS: From a previous follow-up study to the age of 16 years, we knew 224 patients with congenital heart disease born in 1975, 119 were considered to need further cardiological follow-up. In 112 (94%) we have a complete follow-up to the age of 20 years with a structured interview by phone. RESULTS: Mortality and medical care during the period between 16 and 20 years of age were at a lower level than in the previous periods. Except in patients suffering from complex or surgically treated cyanotic heart disease, the results, compared to the standard population at the age of 20 years, are better with regard to professional status, and equal for physical activity and psychosocial integration. Only 60% of the patients were followed by an adult cardiologist and only 45% of the patients needing antibiotic prophylaxis against bacterial endocarditis are aware of this. CONCLUSION: Except in patients with complex congenital or surgically treated cyanotic heart diseases, the outcome at the age of 20 years with regard to professional status, physical activity and psychosocial integration is very good compared with the standard population at the age of 20 years. The handover to the adult cardiologist is inadequate and knowledge and awareness of antibiotic prophylaxis against bacterial endocarditis is also insufficient-both aspects need improvement.
In this review, the role of transcatheter methods in the management of cyanotic congenital heart defects is discussed. In patients with interventricular right-to-left shunting secondary to pulmonary outflow tract obstruction (most commonly tetralogy of Fallot), balloon dilatation may be an effective palliative procedure in a substantial proportion of patients, obviating the need for a palliative shunt. We would recommend this if the patient's size or cardiac anatomy makes that patient an unsuitable candidate for safe total surgical correction. Infundibular myectomy with atherectomy catheter in tetralogy of Fallot patients may become a useful adjunct in the management of these infants. Cyanotic children with interatrial right-to-left shunt secondary to severe valvar pulmonary stenosis respond to balloon pulmonary valvuloplasty in a manner similar to that seen with isolated pulmonary valve stenosis. In these patients, balloon valvuloplasty is the treatment of choice and may be corrective in most cases. In patients with a narrowed Blalock-Taussig shunt, balloon angioplasty may improve pulmonary oligemia and systemic arterial hypoxemia and may obviate the need for a second systemic-to-pulmonary artery shunt. Balloon angioplasty is recommended if the patient's cardiac defect is not amenable to surgical correction at a low risk either because of the size of the patient or because of the complexity of the cyanotic heart defect. In patients with pulmonary valve atresia, initial opening of the atretic pulmonary valve by either laser or surgery with subsequent balloon dilatation is potentially beneficial in reducing the total number of surgical procedures that these children are likely to require. However, further clinical trials are needed prior to their general use.
In 63 patients with various congenital heart defects, lung perfusion was evaluated with technetium-99mm macroaggregated albumin. Right lung perfusion abnormalities were documented in 34 patients (54%). A particularly high incidence occurred in patients who had undergone a systemic to pulmonary artery shunt operation as an initial palliative procedure or who had had right ventricular outflow reconstruction and in those with bilateral pulmonary artery stenosis. Serial studies were helpful in evaluating the functional results of different transcatheter interventions for optimizing pulmonary blood flow. The quantitative relative perfusion radionuclide method was a more sensitive means of detecting cases of abnormal lung perfusion than was chest radiology.
Congenital heart defects (CHDs) are genetically heterogeneous, associated with a variety of genetic conditions. Familial aggregation of CHD in patients with and without Down syndrome is rare. We report on the occurrence of concordant CHD in three sets of sibs with discordant karyotypes. In the first family, atrioventricular canal (AVC) was diagnosed in a chromosomally normal child and in his brother with Down syndrome. In the second family, AVC was associated with trisomy 21 in one sib and with trisomy 18 in the other. In the third family, tetralogy of Fallot was present in one patient with Down syndrome and in his nonsyndromic sister. Although the genetic heterogeneity of Down and non-Down CHD is not disputed, a susceptibility to both euploid and aneuploid CHDs could exist, and common predisposing factors could play a role in both conditions.
Supraventricular tachycardia is a frequent cause of disease in patients with congenital heart defects and has a potentially high impact on quality of life, morbidity and mortality of this patient cohort. Conventional treatment often fails to avoid recurrences of tachycardia in a long-term perspective. Potential side effects of antiarrhythmic drugs include aggravation of heart disease related disturbances of impulse generation and conduction properties or negative inotropic effects on haemodynamically impaired ventricular chambers. For these reasons, interventional electrophysiology is increasingly used for the treatment of supraventricular tachycardias in patients with congenital heart disease. Until March 1998 a total of 83 patients with congenital heart defects underwent an attempt for radiofrequency current treatment of supraventricular tachycardias. Among these were 36 children with an age of 5 months to 15 years (8.2 +/- 4.6 years) and 4.7 grown ups with an age of 17 to 76 years (39.3 +/- 14.3 years). In a natural course or preoperative status of the congenital heart disease were 35 patients, while palliative or corrective surgery was performed in 48 patients. Supraventricular tachycardia was based on a total of 63 congenital arrhythmogenic substrates, among them were 53 accessory pathways, 4 Mahaim fibres, 5 functionally dissociated AV-nodes and an anatomically doubled specific conduction system including 2 distinct AV-nodes in one case. In the remaining patients with tachycardia based on acquired arrhythmogenic substrates there were 45 incisional atrial reentrant tachycardias, 15 atrial flutters of the common type and 6 ectopic atrial tachycardias. In a total of 105 sessions 78 of the 83 patients were successfully treated with the use of radiofrequency current ablation. There were no significant procedure related complications. Radiofrequency current ablation can be carried out safely and successfully for the treatment of supraventricular tachycardia in young and adult patients with congenital heart disease. As such therapeutic strategy meets the specific requirements of this patient cohort, early consideration for this therapy is recommended.
Pregnant mice were exposed to a single dose of alcohol (0.03 ml of 25% alcohol X g-1 mouse) or two doses (2 X 0.015 ml of 25% alcohol X g-1 mouse) 4 h apart, by intraperitoneal injection or by gavage, on days 7, 8, 9 or 10 of gestation. The mice were killed on the day before term and the fetuses examined for heart defects. Alcohol exposure on day 8, 9 or 10 of gestation caused a high incidence of ventricular septal defects (60%, 75% and 15% respectively). Defects of both the membranous and muscular parts of the septum were seen as well as more complex ventricular septal defects involving the great vessels. Day 7 was resistant to the induction of heart defects. This study has demonstrated that a relatively short exposure to high doses of alcohol during pregnancy in mice can cause congenital heart defects. This has important implications both as a possible cause of congenital heart anomalies in humans and for the counselling of mothers of affected children.
OBJECTIVES: To determine the prevalence of persistent developmental impairments in children with congenital heart defects and to identify factors that enhance risk for an adverse outcome. STUDY DESIGN: Eligible infants (n = 131) <2 years of age requiring open heart surgery were recruited prospectively. Subjects were assessed during surgery and again 12 to 18 months later with standardized developmental assessments and formal neurologic examinations. RESULTS: Mean age at follow-up testing was 19.1 +/- 6.6 months. Assessments indicated that 41% had abnormal neurologic examinations. Gross and/or fine motor delays were documented in 42%, and 23% demonstrated global developmental delay. Univariate and multiple regression models identified the following factors increasing the risk for persistent developmental deficits: preoperative and acute postoperative neurodevelopmental status and microcephaly, type of heart lesion, length of deep hypothermic circulatory arrest, age at surgery, and days in the intensive care unit (P <.05). CONCLUSIONS: Children with congenital heart defects commonly have ongoing neurologic, motor, and developmental deficits well after surgical correction. The cause is multifactorial and includes brain injury before, during, and after heart surgery.
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OBJECTIVE: To examine the impact of hospital caseload on in-hospital mortality for pediatric congenital heart surgery. DESIGN: Population-based, retrospective cohort study. SETTING: Acute care hospitals in California and Massachusetts. PATIENTS: Children undergoing surgery for congenital heart disease, identified by the presence of procedure codes indicating surgical repair of a congenital heart defect in computerized statewide hospital discharge abstract databases. Cases were grouped into four categories based on the complexity of the procedure. MAIN OUTCOME MEASURES: Adjusted odds ratios (OR) for in-hospital death were estimated using generalized estimating equations that account for the intra-institutional correlation among patients. RESULTS: A total of 2833 cases at 37 centers were identified. Compared with centers performing > 300 cases per year, after controlling for patient characteristics, centers performing < 10 cases per year had an OR for in-hospital death of 7.7 (95% confidence interval (CI) [1.6-37.8]); 10 to 100 cases, OR = 2.9 (95% CI [1.6-5.3]); 101 to 300 cases, OR = 3.0 (95% CI [1.8-4.9]). Independent risk factors for mortality included procedure complexity category (P < .0001), use of cardiopulmonary bypass (P < .0001), young age at surgery (P = .001), and transfer from another acute care hospital (P < .0001). Few differences were found by hospital caseload in length of stay or total hospital charges. CONCLUSIONS: For children with a congenital heart defect who underwent surgery in California in 1988 or Massachusetts in 1989, the risk of dying in-hospital was much lower if the surgery was performed at an institution performing > 300 cases annually. This study was limited by the absence of clinical detail in discharge abstract databases. If these findings are corroborated by other studies, health care delivery strategies that direct children requiring surgical correction of congenital heart defects to high-volume centers may substantially reduce overall mortality.
The assessment of ventricular function has contributed to the current surgical evaluation and surgical treatment of congenital heart defects, but many issues remain unresolved. The challenge of assessing ventricular function after surgical repair of congenital heart defects includes not only the general problem of distinguishing adverse loading conditions from myocardial failure but also more unique problems of right heart function and developmental differences in ventricular function. The possibility and significance of diastolic dysfunction are essentially unexplored and contingent upon our better understanding of the determinants of diastolic indices. Many of the technologies and methods are currently available and there is the beginning of a move toward better designed clinical trials and analysis of results. The assessment of ventricular function will become increasingly important as surgical techniques are improved and we are left with the more difficult choices between competing approaches.
The main aim of this study was to discover the number of children with heart defects registered for dental care under capitation in the north-east of England. Subsidiary aims were to compare percentage registrations of these children with those of a similar age in the general population and to investigate the involvement of the Hospital Dental Service (HDS) and Community Dental Service (CDS) in providing dental care for children with heart defects. A sample of all patients under the age of 18 years attending the northern regional cardiothoracic unit between 1st August 1990 and 31st July 1992 was obtained. Details were sent to the Dental Practice Board for analysis during September 1993. A separate analysis was undertaken to estimate the number of children receiving dental care at the dental hospital, Newcastle upon Tyne and within the CDS. A total of 930 children were identified during the study period. Only 38% of children were currently registered for capitation. Of the 930 patients 56 (6%) were registered at the dental hospital while 9% were estimated to be regularly attending the CDS. It is concluded that in the north-east of England, children with heart defects are registered under capitation at an unacceptably low level. They are less likely to be registered than children without this medical condition and it cannot be demonstrated that other dental services are making good the shortfall.