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The improvement in heart scanning expertise during the routine obstetric scan has resulted in more congenital heart disease being recognized prenatally. Early diagnosis of severe heart malformation results in the majority of parents choosing to interrupt the pregnancy or allows the mother to give birth in a centre with obstetric and paediatric cardiac facilities.
Current and developing knowledge of mechanisms underlying the embryological development of congenital heart defects strongly suggests that medical evaluation should be extended to relatives of patients. Relatives may be found to have either subclinical or significant heart defects of specific forms that are phylogenetically related to the disorder of the index case. Discovery of the disorder in relatives allows better medical management and lends accuracy to assessment of the risk of congenital heart defects in future progeny of relatives.
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To determine the relation between having an infant with a major heart defect and a mother's prepregnancy weight, we compared 1,049 Atlanta-area women who gave birth to liveborn or stillborn infants, each with a major heart defect, with 3,029 Atlanta-area women who gave birth to infants without birth defects. The infants of control women were randomly selected from birth certificates and were frequency-matched to the case group by race, birth hospital, and birth period from 1968 through 1980. After excluding diabetic mothers and adjusting for potential confounders, compared with average-weight women (body mass index 19.9-22.7), we found that underweight women (body mass index <16.5) were less likely to have a child with a major isolated heart defect [odds ratio (OR) = 0.64; 95% confidence interval (CI) = 0.43-0.97], whereas the OR was elevated among overweight or obese women (body mass index >26) (OR = 1.36; 95% CI = 0.95-1.93). Using average-weight women who did not take periconceptional multivitamins as the reference group, periconceptional multivitamin use was associated with a reduced OR for isolated heart defects among average-weight women (OR = 0.61, 95% CI = 0.36-0.99) and underweight women but not among overweight or obese women (OR = 1.69, 95% CI = 0.69-3.84).
The authors investigated the possible association between a mother's nausea during pregnancy and her child's risk for a congenital heart defect using data from the population-based Atlanta Birth Defects Case-Control Study conducted in 1982-1983. Case infants (n = 998) had nonsyndromic congenital heart defects and control infants (n = 3,029) had no congenital defects. Nausea during pregnancy (NP) was graded in eight levels of "severity" based on its onset, frequency, and duration. Level 1, the most severe NP, was associated with a lower risk for a congenital heart defect in the child (odds ratio (OR) = 0.81, 95% confidence interval (CI) 0.67-0.99) compared with no nausea. The lower risk tended to disappear with less severe levels of nausea, and the trend was statistically significant. Overall, early NP (levels 1 to 4 combined) with use of antinausea medication, particularly Bendectin (doxylamine, dicyclomine (dropped from the formulation in 1976), pyridoxine (vitamin B6)), was associated with a lower risk for congenital heart defects compared with: 1) absence of nausea (OR = 0.67, 95% CI 0.50-0.92), and 2) nausea without medication use (OR = 0.70, 95% CI 0.50-0.94). The results suggest that pregnancy hormones and factors or, alternatively, a component of Bendectin (most probably pyridoxine) may be important for normal heart development. These findings outline potential areas for future research on and prevention of congenital heart defects.
BACKGROUND: Reoperations in cardiac surgery of congenital heart defects represent not only the difficult technical problem but also a prognostic one. They are demanding reconstructive procedures with broad spectrum of hazards and are definitely cumulating the operative risk. METHODS AND RESULTS: At the Pediatric Kardiocentrum, University Hospital Motol, Prague, there were 2250 children operated on for congenital heart defects in the first year of life and followed up during 1969-1996. There were 1701 primary corrections (75%) and 549 palliative procedures (25%). After operation 1912 survivors (85%) were followed-up to 25 years. Later on 524 children (27%) were reoperated with 672 procedures. There were three main reasons for reoperation: 1. Staged procedures of complex heart defects in 477 children. 2. One hundred seventy four reoperations for residual defects were performed after primary procedure in 123 infants. There were 11 corrections of residual intracardiac shunts and 120 repairs of residual stenoses. There were 58 repairs of recoarctation, 40 pulmonary artery reconstructions after arterial shunts and 43 reoperations on valves for restenosis or worsened regurgitation. 3. Other 21 extracardiac complications of primary operation were solved by pacemaker implantation (8), plication of paralysed diaphragm (6), chylothorax (3) and other (4). The causes of reoperations represent 7 main categories: 1. Solid scars, adhesions and fibrous bands cause stenoses. 2. Palliative procedures influence positively the hemodynamics, but compromise the development and growth of myocardial wall. 3. Synthetic materials are nor growing but produce obstructions. 5. Incomplete primary correction and technical errors. 6. Iatrogenic injury of the phrenic nerve or the bundle of His. 7. False diagnosis. The hazards of reoperations are: 1. High risk of resternotomy with catastrophic bleeding. 2. Difficult cannulation for heart-lung bypass, and problematic induction of cardioplegia. 3. Difficult dissection of all structures with the high risk of bleeding on the site of aorta, lung hilum or coronary arteries. 4. Difficult left heart decompression and defibrillation of the heart. 5. Paralysis of the diaphragm. CONCLUSIONS: Staged procedures are the major source of reoperations. Their volume does not change much and it is difficult to influence it because still a large number of complex heart defects are operated every year. On the contrary the residual or recurrent defects as well as a number of further complications can be influenced by preventive measures during primary operation.
OBJECTIVE: To compare preferences obtained from health professionals with those from parents for the longer-term health outcomes of children with congenital heart defects. SETTING: Cardiology conference; hospital. PARTICIPANTS: 109 paediatric cardiology professionals (72% female, median age 38 years) and 106 parents of children with congenital heart defects (82% female, median age 37 years). INTERVENTIONS: Eight health state descriptions, for cardiac and neurological disability resulting from congenital heart defects, were developed and presented with a self-administered anonymous questionnaire. Respondents were asked to rank health state descriptions from best to worst, score each health state using a visual analog scale and mark death on this scale. RESULTS: Health professionals and parents agreed in the order of ranking health states from best to worst. Both groups assigned the lowest scores to health states with severe neurological disability. Scores did not differ significantly by age, sex or whether the respondent was in the health professional or parent group. Of all respondents, 8% (17) scored at least one health state description worse than death. CONCLUSIONS: Parents and health professionals place similar values on the quality of life outcomes of children with congenital heart defects. Both are more averse to health states describing worse neurological than cardiac disability. Improving our understanding of the relative importance of different outcomes to children and families is an important basis for sharing decisions about clinical care. The views of young people with congenital heart defects should be an important focus for future enquiry into health outcomes.
OBJECTIVES: Collection and assessment of data from the Emilia-Romagna Region on the occurrence of congenital heart defects in order to identify an homogeneous group of patients for further aetiologic and genetic studies. MATERIALS AND METHODS: The present study is based on 1549 stillborn and live born babies affected by congenital heart defect out of 330,017 consecutive births (4.7 per 1000). RESULTS: The frequency and type of congenital heart defects have been identified together with the sex ratio, associated extracardiac anomalies, chromosomal anomalies and the risk of precurrence in relatives. The impact of prenatal diagnosis on prevalence was low during the study period. CONCLUSIONS: The study has provided epidemiological data for public health surveillance of congenital heart defects in the Emilia-Romagna region. The creation of a system for the nationwide recording of congenital heart defects designed with regard to the sources of ascertainment, the diagnostic criteria, and the system of classification is emphasised.
Chromosome duplications involving 1p are rarely reported but are apparently associated with short survival as well as congenital malformations and impaired development. Several of these have had congenital heart defects, although too few patients have been reported with similar breakpoints to characterize a syndrome. We present a girl with a novel interstitial duplication in the short arm of chromosome 1 [46,XX,dup(1)(p34.1p34.3)]. She presented with congenital heart defects at 1 month and by 1 year of age manifested delayed acquisition of motor milestones and subsequently of language milestones. By breakpoint-mapping using FISH analysis, we determined that her 1p duplication spans 8.5 megabases. Her 1p duplication is the smallest reported to date to contain 1p34 in patients with congenital heart defect due to abnormalities of heart looping during development. Thus, her 8.5 MB duplication provides a target region to search for a potentially dosage-sensitive gene(s) causing abnormal heart looping when duplicated. Two patients have been reported with duplication including 1p34 but without congenital heart defect, and their duplications span all but the distal approximately 2 MB segment duplicated in our patient. Thus, within our patient's 8.5 MB target region for a dosage sensitive gene leading to looping abnormalities (and thereby congenital heart defect), the distal 2 MB region might well be the region to begin the search.
OBJECTIVE: To report on the first case of congenital heart defects in pigs in Australia. DESIGN: Retrospective analysis of case records from an inbred herd of "Westran" pigs at the University of Sydney, between January 2001 and December 2004. Detailed gross and histological examination of 15 hearts from pigs that had died or were euthanased in 2004. CASE DETAILS: The necropsy records from a population of 471 pigs that had died (106 pigs) or were euthanased for research purposes (365 pigs) were analysed and the incidence of heart defects recorded, together with basic demographic data. No attempts were made to diagnose the condition in live pigs. RESULTS: Congenital heart defects were diagnosed in 6.4% of pigs but this is likely to be an underestimate of the incidence of the deformity. Eighteen pigs died on the farm as a result of the defect, and 12 pigs were diagnosed with the defect as an incidental finding. The most common abnormality seen at necropsy was a sac-like dilatation on the right lateral surface of the right atrium. This was associated with secondary deformity and hypoplasia of the adjacent left ventricle, interventricular region and part of the right ventricle. All hearts showed atrial septal defects of varying size. CONCLUSION: This is the first reported case of congenital heart defects in pigs in Australia, and one of less than five reported cases of atrial septal defects in pigs in the world. The authors conclude that there may be an element of genetic predisposition to the malformation, since it has only been reported in this inbred line of pigs.
The clinical approach to children with congenital heart defects (CHD) has been revolutionized during the past four decades by developments in diagnostics and therapeutics. In contrast, a profound understanding of the causes of the majority of CHD has only begun to emerge within the past few years. Prior epidemiological studies suggested that Mendelian disorders constituted a very small percentage of CHD and that polygenic inheritance was responsible for the majority of cases. Recent discoveries, largely achieved with molecular genetic studies, have provided new insights into the genetic basis of heart malformations. These studies have shown that CHD caused by single gene or single locus defects is more common than had been suspected. In addition, a higher percentage of heart malformations occur in the context of familial disease than was evident previously. In this review, molecular genetic studies of specific heart lesions and syndromes with CHD are reviewed. Progress on the Human Genome Project has accelerated identification of genes for Mendelian traits with heart defects, and it is anticipated that disease genes for most single gene traits will be known within a few years. Future challenges include utilizing this emerging genetic information to improve diagnosis and treatment of children with CHD, and harnessing the power of genomics to analyze isolated heart defects with complex inheritance patterns.
One hundred and thirty five consecutive fetuses of between 16 and 23 weeks' gestation that were considered to be at high risk of having structural heart defects were examined prospectively to determine the reliability of echocardiography for diagnosing such defects in mid trimester. Each echocardiogram was done in a standard manner and cardiac anatomy was analysed segmentally. Twelve fetuses were excluded from analysis because of lack of follow up. Of the remaining 123 fetuses, 109 had no evidence of heart disease when followed up. In this group the prenatal echocardiogram was normal in 105 and technically inadequate in four; thus there were no false positive diagnoses of heart disease in fetuses subsequently shown to have normal hearts. Fourteen had heart defects at follow up. The serious defect was correctly diagnosed prenatally in 10 of 14 cases, whereas in the other four the prenatal echocardiogram was considered normal. Some errors were made in diagnosing associated segmental defects particularly if the heart disease was complicated. Therapeutic abortion was carried out in seven cases; in five of the fetuses the prenatally diagnosed heart defect was the sole or an important contributing reason for the abortion. We conclude that echocardiography is a reliable method for diagnosing many heart defects in the mid trimester.
AIM: To assess the outcome and mortality trend in newborns undergoing corrective surgery for congenital heart defect. METHOD: We reviewed the hospital records of 1,033 neonates under 30 days of life, who had congenital heart defects operated on at the Kardiocentrum, Motol University Hospital in Prague, Czech Republic, during 1977-2001. Early and late mortality and reoperation rates were analyzed. RESULTS: A total of 1,156 operations were performed in 1,033 neonates. Obstructive lesions were surgically treated in 56%, left-to-right shunts in 21%, and complex conotruncal lesions in 23% of the cases. Total correction has been achieved in 62% of the neonates. Most operations (75%) were performed in the first two weeks of neonate s life. Early 30-day hospital mortality was 13%. Late mortality, after the discharge from the hospital, was 10%. In the last three years, the hospital mortality rate decreased to about 2%. Out of 590 reinterventions in 379 neonates, with the mortality of 6%, 229 were secondary staged corrections and 190 further palliative procedures aimed mostly toward Fontan or Rastelli type of circulation. Residual or recurrent defects were solved in 62 neonates. There were 30 valve replacements, with 18 mechanical valves and 12 pulmonary valve autotransplantations (the Ross procedure). The homograft valved conduit was used in 38 children. CONCLUSION: Most newborns with critical congenital heart defects can undergo corrective operation under acceptable risk. Due to complex improvements in perioperative, anaesthetic, surgical, and postoperative care, contemporary hospital mortality can be reduced to 1-3%. Palliative procedures still play an important role in the staged treatment of severe complex heart defects in neonates.
Congenital heart disease occurs in 35-50% of patients diagnosed with Noonan syndrome. We present an infant with an unusual combination of congenital heart defects not previously reported, including partial atrioventricular septal defect, polyvalvular dysplasia, and progressive hypertrophic cardiomyopathy. We discuss the possible interaction between these lesions that may have led to the patient's rapid demise.
Genetic counseling should be used in the context of prenatal diagnosis of congenital heart defects for several reasons. The insight gathered through the family history, review of ultrasound findings, and chromosome analysis may help to determine the origin of the defect, such that more precise information about prognosis and recurrence risks can be given. This information should be used by the patient to consider options for the current pregnancy and management of future ones. The difficult and emotionally charged decisions that come with prenatal diagnosis of congenital heart defects demand that the psychosocial burden be explored with the patient. Genetic counseling should facilitate the decision-making process and address patient needs. Genetic counselors have the training, experience, and time to focus on these elements. The role of genetic counseling in congenital heart defects is likely to increase as advances in understanding the underlying genetic causes are made and incorporated into patient care and counseling. Genetic counseling for this indication will become more common as prenatal detection improves and as more affected individuals live to reproductive age.
Absorbable suture material has several theoretical advantages in operations for congenital heart defects performed in infancy. This study compares handling characteristics of absorbable polyglyconate (Maxon) and non-absorbable polypropylene used in a variety of operations for congenital heart defects. There was no difference in mortality and morbidity between the two groups (50 patients each). Satisfactory tensile strength was noted in both groups. Maxon had more suppleness and first throw holding but more tissue drag when compared with polypropylene. Maxon was considered to be a suitable suture material in operations for congenital heart defects when the use of absorbable material is indicated.
Rhythm disturbances may be observed in the natural history of congenital heart defects, as well as after open heart surgery. About 40-50% of adults with congenital heart defects will experience some type of arrhythmia. In the growing population of postoperative patients, the type of rhythm disturbance depends on the type of heart surgery: after operation at ventricular level, conduction disturbances and ventricular arrhythmias are quite common. After surgery at atrial level (e.g. closure of ASD, but much more after atrial correction of transposition), sick sinus syndrome and supraventricular arrhythmias are chiefly observed. Conduction disturbances may be subdivided into the very common intraventricular conduction defects (right bundle branch block, sometimes with left anterior hemiblock) and complete A-V block. Complete heart block has become less frequent in recent years since surgeons have learnt to avoid the bundle of His during VSD closure. All patients with postoperative complete heart block need a permanent pacemaker. Ventricular arrhythmias after ventricular surgery are commonly found if Holter recordings are done, particularly after correction of tetralogy. They are often asymptomatic but may be a cause of late sudden death (1-3% of patients operated on for tetralogy). Antiarrhythmic treatment is indicated if symptoms are present, or in selected asymptomatic patients with a poor hemodynamic result (severe residual pulmonary stenosis or ventricular dysfunction). Sinus node dysfunction and sick sinus syndrome are common after atrial repair of transposition (Mustard or Senning operation). The manifestations are either sinus bradycardia and sinus arrest with long pauses, or atrial reentry tachycardia (Flutter); these may combine, so that antiarrhythmic medication must be associated with permanent pacemaker implantation.(ABSTRACT TRUNCATED AT 250 WORDS)
OBJECTIVE: About 1% of live born children have congenital heart defects (CHD). Knowledge of the true incidence of CHD is important because of the risk of bacterial endocarditis in patients with heart defects. This knowledge could also serve as a basis for research on the etiology of CHD. The aim of our study was to investigate the incidence of CHD in children born in Iceland during a ten year period, from 1990 to 1999. A similar study on CHD was carried out in Iceland for children born 1985-1989. The incidence of CHD in the present study was compared to the previous and to similar studies from other countries. MATERIAL AND METHODS: Information about the patients were obtained from medical records from two hospitals covering the whole country, a private clinic of pediatric cardiologists, echocardiography database, autopsy reports and death certificates. Distribution of specific heart defects, age at diagnosis, symptoms leading to the diagnosis, referral pattern, treatment and quality of life was investigated. Other congenital defects, chromosomal defects and syndromes in the patients were studied. Premature children with patent ductus arteriosus (PDA) and children with patent foramen ovale (PFO) or atrial septal defect (ASD) smaller than four millimeters were excluded. We also studied the incidence of bicuspid aortic valve (BAV). All diagnoses were confirmed with echocardiography and in some cases cardiac catheterization. RESULTS: Between 1990 and 1999 there were 44,013 live births in Iceland, 740 children were diagnosed with a CHD or 1.7% of live born children. Yearly incidence varied from 1.04% of live births in 1991 to 2.34% in 1997. Male/female ratio was 1/1. The distribution of the defects was following: ventricular septal defect (VSD) 338 (45.7%), ASD 90 (12.2%), PDA 85 (11.5%), valvar pulmonal stenosis 48 (6.5%), BAV 38 (5.1%), coarctation of the aorta 28 (3.8%), tetrology of Fallot 22 (3.0%), transposition of the great arteries 14 (1.9%), aortic stenosis 11 (1.5%), common atrioventricular septal defect 10 (1.4%), mitral valve regurgitation 9 (1.2%), sub-aortic stenosis 7 (0.9%) and hypoplastic left heart syndrome 5 (0.7%). Other defects were less frequent. About 47% of children with CHD were diagnosed either before birth or before discharge from the delivery institution. A cardiac murmur on examination was the most common symptom leading to the diagnosis of CHD, 631 patients (85.3%). Extracardiac anomalies were seen in 89 patients (12.0%). Chromosomal abnormalities were seen in 36 patients of whom 28 had Down's syndrome. The majority or 499 patients have no symptoms but are still in follow-up, 20 patients have daily symptoms and/or receive medical treatment and 27 patients have died. Conslusions: Annual incidence of patients diagnosed with a CHD has increased during the study period. This is observed in minor CHD but the incidence of major defects does not alter. This yearly incidence (1.7%) is higher than in the previous study, where it was 1.1%. The difference can partly be explained by the BAVs, which were excluded in the 1985-1989 study. But the number of CHD diagnosed each year has increased, this being most pronounced in the last three years. The annual incidence in our study is also higher than in other population studies. The most likely explanation for the higher incidence in our study is the fact that access to pediatric cardiologists is very good in Iceland. Diagnosis, registration and follow-up is conducted by only a few cardiologists for the whole nation and takes place at a single pediatric cardiology center. Of 740 patients diagnosed with CHD in the study period 713 are alive. The outcome of the therapy is good and the majority of the patients has no symptoms.