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PubMed1987

[Intestinal malformations and congenital heart diseases].

A series of 21 patients with both congenital heart disease and intestinal malformation seen over a 12-year period is reported. The intestinal malformations were: anorectal malformations (11 cases), duodenal atresia (5), omphalocele (4) and common mesentery (1). Congenital heart diseases consisted of: atrial septal defect (ASD) (10 cases), ventricular septal defect (VSD) (2), tetralogy of Fallot (2) and miscellaneous cardiopathies. In patients with anorectal malformations ASD and VSD predominated (6/11 cases) and multiple malformations syndromes were present in 8 cases, including trisomy 13, Vater syndrome, skeletal (4), neurological (3) and renal abnormalities (3); 3 children died. Duodenal atresia was always associated with left-to-right shunt: VSD (3), ductus arteriosus (2), complete atrioventricular canal (1) and trisomy 21 (2); one child died. Omphalocele coexisted with VSD (2), tetralogy of Fallot (1), dual outlet right ventricle (1), trisomy 21 (1) and multiple malformations syndromes (3); 2 children died. The patient with common mesentery had left-to-right shunt. Comparison of this series with data from the literature showed that children with congenital heart disease have a much higher incidence of intestinal malformations than those with normal heart and that they frequently present with multiple malformations (chromosome aberrations or multiple organ lesions). This multiple malformation complex is particularly common in anorectal malformations where the incidence of congenital heart diseases is 9 to 14%, with predominance of VSD and tetralogy of Fallot. In patients with duodenal atresia trisomy 21 is extremely frequent, and the incidence of cardiopathies is 18%; in the absence of trisomy 21 the cardiopathy is complex.(ABSTRACT TRUNCATED AT 250 WORDS)

Abnormalities, Multiple↗
PubMed1994

Death in infancy from unrecognised congenital heart disease.

This study was undertaken to identify all congenital heart disease in infancy, including deaths before diagnosis, to provide a truer picture of the spectrum of congenital heart disease and to assess the 'treatability' of those dying before diagnosis. All births, infant deaths, and surviving babies with congenital heart disease in one health region in 1985-90 were identified and were classified as 'complex', 'significant', or 'minor'. Of the 1074 infants diagnosed in infancy, 185 died and 56 of these (30%) died undiagnosed. Severe non-cardiac malformations were present in 29 of the 56 while 27 were otherwise normal. Cardiovascular abnormalities in the latter group were complex in 13/27 and significant in 14/27. Identification of undiagnosed cardiovascular anomalies will improve epidemiological evaluation of congenital heart disease and, more importantly, earlier recognition of treatable abnormalities may reduce mortality.

Abnormalities, Multiple↗
PubMed1995

[What attitude should be adopted in congenital heart disease in adults?].

Two types of congenital heart disease are observed in adults: those discovered during childhood which may or may not have been operated, depending on their degree of severity and the surgical possibilities; those discovered during adulthood, which represent approximately 500 new cases per year and which raise particular problems: the extensive assessment which must be performed, the therapeutic solution adapted to particular situations, contraception, pregnancy, prophylaxis of endocarditis, sports or work. It is often difficult to decide to operate. Interventional catheterization represents an elegant solution in congenital heart disease in adults.

Adult↗
PubMed1991

Chromosomal anomalies in fetal congenital heart disease.

A series of 467 cases of congenital heart disease detected in prenatal life were analyzed to identify the forms of cardiac malformation associated with karyotypic defects and to calculate the incidence of chromosomal abnormalities associated with such malformations. Of these, 77 were proved to have chromosomal anomalies although not all were karyotyped. The results were analyzed in two ways. First, the whole series of 77 cases was examined in order to describe the form of congenital heart disease found in association as, although many cases were forms of heart disease known to be associated with chromosomal defects, several were unexpected. In many cases which proved positive, there were other abnormal findings on ultrasound, further suggesting a high likelihood of a chromosomal defect. Some cardiac defects, however, such as atrial isomerism or transposition of the great arteries, were not associated with trisomies. The second part of the study examined in detail the records of 124 cases of congenital heart disease seen in 1989, as these were more completely documented than the previous cases. No chromosomal anomaly was therefore thought to be missed. Of this group, 20 (16%) proved positive. This is a higher rate than would be expected in an unselected population of live births. The difference between prenatal and postnatal life can be accounted for by the increased rate of spontaneous fetal loss in those with chromosomal defects. We conclude that, because of the high rate of chromosomal anomaly, all continuing pregnancies where congenital heart disease has been found in the fetus should be karyotyped unless specific types of heart defect which are rarely associated are confidently defined.

Journal Article↗
PubMed1991

The physiology of congenital heart disease: assessment by Doppler color flow mapping.

The use of Doppler echocardiography is a routine part of the noninvasive assessment of the patient with heart disease. In children with congenital heart disease, pulsed- and continuous-wave Doppler echocardiographic techniques provide accurate, reproducible hemodynamic data relative to structural defects. Doppler color flow imaging, however, allows for qualitative assessment of blood flow patterns, which may give important insights into the changing physiology of the newborn infant or that of a patient in the medical or surgical intensive care settings. Ten cases are presented in which this flow information is instructive in understanding the physiological sequelae of congenital heart disease.

Adolescent↗
PubMedDate not supplied

Diagnosis and management of congenital heart disease in the adult.

Currently, there are 1 million people in the United States over the age of 20 with congenital heart disease. These adult congenital heart patients can "slip through the cracks of our medical system" and many are too old to be cared for in most pediatric institutions by pediatric cardiologists, and, unfortunately, most adult cardiologists are not trained in congenital heart disease. Therefore, it is important to understand what the common lesions are in adult congenital heart disease and how they should be managed. Acyanotic congenital heart disease in the adult population primarily involves left-to-right shunts, such as atrial septal defect, ventricular septal defect, patent ductus arteriosus, and obstructive lesions such as aortic coarctation of the aorta. The most common form of cyanotic congenital heart disease in adults is tetralogy of Fallot. Other complex conditions seen in adults include univentricular hearts, Ebstein's anomaly of the tricuspid valve, and corrected transposition of the great vessels. Most patients with congenital heart disease will need to undergo surgery, catheterization, or catheterization intervention. Results are excellent in the adult population. Long-term follow-up is needed for any adult congenital heart patient receiving care in institutions that are well organized and well equipped, as we learn more about the natural and unnatural history of these conditions.

Adult↗
PubMedDate not supplied

[Anomalies of the urinary tract associated with congenital heart diseases].

Due to the frequent association of congenital heart disease and urinary tract malformations we studied 434 patients undergoing angiocardiograms for diagnosis of their congenital heart disease. In every patient a plain abdominal X-ray film was made in order to observe urinary elimination of the contrast material. We found 70 patients with urinary tract malformations, the most frequent of which was pyelo-chaliceal dilatation, accounting for 47.1% of all the malformations found. A double pyelo-chaliceal system was found in 25.7%, kidney hypoplasia in 10% and in lower frequencies double urethers, kidney agenesia, pelvic kidneys, horseshoe-shaped kidney and others. Patients were usually urologically asymptomatic. In view of the frequent association of congenital heart disease and urinary tract malformations a plain abdominal X-ray film should always be performed postangiographically. In some cases a contrast urography is recommended.

Adolescent↗
PubMedDate not supplied

Congenital heart disease and its association with other congenital malformations found at autopsy.

The objective was to determine if a study of other malformations found autopsy in patients with congenital heart disease would contribute to an understanding of the mechanisms involved in the formation of these anomalies. In a large general hospital autopsies in children with congenital heart disease were selected, and the different cardiopathies were divided into 3 groups: those with isolated heart lesions, those with single gene mutants, as well as chromosome malformations, and those with idiopathic malformations not associated with a genetic syndrome. Because the cardiopathies most often associated with genetic syndromes were the septal defects in general (p = .001), it was presumed that these are influenced to a considerable extent by genetic factors. The association of left heart hypoplasia and coarctation of the aorta with multiple idiopathic malformations, particularly in the lower half of the body (p = .002), suggests that the latter may be due to vascular disruptions, because of the interruption of the flow of oxygenated blood in the embryo-fetus produced by these heart defects. Cranial defects were not associated with left heart obstruction, and are therefore unlikely to be produced by vascular disruption.

Abnormalities, Multiple↗
PubMed1984

Echocardiographic and anatomical correlations in fetal congenital heart disease.

In a series of 1600 pregnancies 34 cases of congenital heart disease were correctly identified by fetal echocardiography. In each case echocardiographic diagnosis was confirmed by anatomical study. Termination of pregnancy was done electively in 14 cases: in six because of the identification of a cardiac anomaly and in the remaining eight because of multiple congenital anomalies. The remaining 20 fetuses died subsequently owing either to the complexity of congenital heart disease or to associated extracardiac abnormalities, which were present in more than half the fetuses with congenital heart disease. There were eight errors in interpretation of the fetal echocardiogram. The outcome of the pregnancy was not influenced by the error in any case. Fetal echocardiography can predict correctly structural malformations of the heart. The technique is sufficiently reliable to give an accurate prognosis in early pregnancy and provide the basis for alterations in obstetric management.

Diagnostic Errors↗
PubMedDate not supplied

Special considerations for heart transplantation in congenital heart disease. The Paediatric Heart Transplant Group.

Congenital heart disease as an indication for heart transplantation accounts for a small number of the total heart transplant experience--less than 3% in most centers. We have performed heart transplantation in eight such patients, accounting for 4% of our total experience. All these patients had specific anatomic anomalies relevant to transplantation. None had morbidity directly related to their anatomic defect and subsequent transplant. Six of the eight had undergone no prior palliative or corrective repairs. One child had a left Blalock-Taussig shunt, and one had bilateral Glenn shunts and a Fontan repair. Technical considerations for orthotopic heart transplantation are described for transposition of the great arteries, left superior vena cava with and without bridging innominate vein, common atrium, presence of Blalock-Taussig shunt, bilateral Glenn shunts, and Fontan repair. Anatomic congenital heart disease is becoming a more frequent indication in heart transplantation. Heart transplantation in the presence of structural congenital heart disease may be technically challenging. Nevertheless, transplantation offers an effective therapeutic alternative for patients with end-stage congestive heart failure and congenital heart disease.

Adult↗
PubMed1997

Developmental concerns in children with congenital heart disease.

Neurodevelopmental outcome of children with congenital heart disease includes a wide spectrum of developmental disorders from language and learning disabilities to mental retardation, delayed development, and cerebral palsy. Numerous studies of cardiopulmonary bypass show that this procedure alone does not affect IQ, but length of circulatory arrest and pH management are associated with decreased IQ. Described here is a behavioral phenotype of children with cardiac disease with a low normal IQ and perceptual-motor delays who are temperamentally more difficult. Further investigation of the vulnerability of specific cardiac lesions, mode of treatment, and the behavioral phenotype of children with congenital heart disease along with the influences of family functioning, socioeconomic status, and chronic medical care is warranted.

Cardiopulmonary Bypass↗
PubMed2005

Lack of evidence of association between MTHFR C677T polymorphism and congenital heart disease in a TDT study design.

INTRODUCTION: Hyperhomocysteinemia is frequently associated with congenital defects of the heart and neural tube. A common missense mutation in the MTHFR gene (C to T substitution at position 677 changing valine to alanine) produces a variant with reduced enzymatic action, resulting in higher plasma levels of homocysteine. The aim of this study is to investigate whether MTHFR C677T functional genetic variant is associated with an increased risk of congenital heart disease (CHD) development using a family-based case-control design and the Transmission Disequilibrium Test (TDT) approach. METHODS: We selected 91 consecutive patients with congenital heart disease for the study. From these patients we were able to obtain samples on 147 parents. The C677T polymorphism at the MTHFR gene was determined from each participant. RESULTS: A statistically significant association was disclosed in univariate analysis using a family-based case-control design (p<0.0001 assuming an additive genetic model, p<0.0001 assuming a dominant genetic model, and p=0.01 assuming a recessive genetic model). This association was explained by an increased frequency of the T allele in patients as compared to their fathers. However, by using a TDT approach a highly non-significant result was obtained and no association could be defined between this locus and congenital heart disease. CONCLUSIONS: We did not find sufficient evidence for an association between MTHFR C677T genotype and congenital heart disease in our study group. Previous reports on such association may be due to population genetic structure.

Algorithms↗
PubMed1996

Congenital heart disease in adults--collaboration between pediatric and medical cardiologists.

Congenital heart disease in adults has become a special area of cardiovascular interest, but remains a relatively unfamiliar discipline. Advances in diagnostic and surgical techniques have had a striking impact on longevity in infants and children with congenital heart disease. Nevertheless, since true cures are rare, long-term care is obligatory for most if not all patients. In parallel with diagnostic and surgical developments, advances in medical management have had a major impact on life span in both postoperative and unoperated patients. Who will assume responsibility for the long-term care of these adult patients? Relatively few medical cardiologists are equipped to do so and relatively few pediatric cardiologists are sufficiently well versed with the accrued problems of aging. Accordingly, the current approach involves collaboration between pediatric and medical cardiologists. The purpose of this report is to underscore the importance of this collaboration, and to focus on 2 particular issues-the management of cyanotic congenital heart disease and the management of congenital heart disease and pregnancy.

Adult↗
PubMed2005

The contribution of pulse oximetry to the early detection of congenital heart disease in newborns.

UNLABELLED: Approximately half of all newborns with congenital heart disease are asymptomatic in the first few days of life. Early detection of ductal-dependant cardiac malformations prior to ductal closure is, however, of significant clinical importance, as the treatment outcome is related to the time of diagnosis. Pulse oximetry has been proposed for early detection of congenital heart disease. The aims of the present study were: 1) to determine the effectiveness of a pulse-oximetric screening performed on the first day of life for the detection of congenital heart disease in otherwise healthy newborns and 2) to determine if a pulse-oximetric screening combined with clinical examination is superior in the diagnosis of congenital heart disease to clinical examination alone. This is a prospective, multi-centre study. Postductal pulse oximetry was performed between six and twelve hours of age in all newborns of greater than 35 weeks gestation. If pulse-oximetry-measured arterial oxygen saturation was less than 95%, echocardiography was performed. Pulse oximetry was performed in 3,262 newborns. Twenty-four infants (0.7%) had repeated saturations of less than 95%. Of these infants, 17 had congenital heart disease and five of the remaining seven had persistent pulmonary hypertension. No infant with a ductal-dependant or cyanotic congenital heart disease exhibited saturation values greater or equal to 95%. CONCLUSION: postductal pulse-oximetric screening in the first few days of life is an effective means for detecting cyanotic congenital heart disease in otherwise healthy newborns.

Early Diagnosis↗
PubMed2002

Poor outcome of very low birthweight babies with serious congenital heart disease.

OBJECTIVE: To evaluate incidence and mortality of congenital heart disease in very low birthweight babies. METHOD: Retrospective analysis of a 12 year period. RESULTS: Forty seven babies were diagnosed with severe congenital heart disease. The most common lesions were ventricular septal defect and coarctation of the aorta. Mortality attributed to congenital heart disease was 32%. Coarctation of the aorta, the second most common lesion, was fatal in 62% of cases. Closure of a patent ductus arteriosus with indomethacin proved to be detrimental in babies with undiagnosed coarctation, causing rapid deterioration in some. CONCLUSION: Very low birthweight neonates with severe congenital heart disease have a higher mortality than babies with higher birth weight. A contributing factor is closure of a patent ductus arteriosus if an underlying lesion has not been recognised. This could be of significance if the use of prophylactic treatment with indomethacin becomes more common.

Aortic Coarctation↗
PubMed2006

Congenital heart diseases of puppies and kittens.

Congenital heart disease (CHD) is defined as a morphologic defect of the heart or associated great vessels present at birth. Abnormalities are caused by alterations or arrests in particular phases of embryonic development of the fetal heart. The term congenital does not imply that the defect was inherited, and the defect may have occurred spontaneously or secondary to a drug or toxin. By studying families of animals with specific CHDs, many defects have also been shown to be heritable.Additionally, if the defect was caused by a spontaneous de novo mutation,that individual has the potential to transmit the mutation to offspring. The diagnosis of CHD is important not only to the health of the patient but to eliminate affected individuals from the breeding pool.

Animals↗
PubMed1987

Advances in surgical management of congenital heart disease in adults.

The spectrum of congenital heart anomalies presenting in adults varies somewhat from that in children. Prolonged exposure to hypoxemia coupled with volume overload or pressure overload can produce myocardial fibrosis and ventricular dysfunction, which complicates surgical correction. Despite these difficulties, surgical correction is possible for most congenital heart lesions in adults, with subsequent improvement in symptoms and survival paralleling that achieved after repair in childhood. In the future, cardiologists and cardiac surgeons will encounter an additional subgroup of adults with congenital heart problems. These are patients who have survived initial correction or palliation of complex heart diseases and later develop complications owing to failure of abnormal native valves or prosthetic valves, narrowing of surgically created conduits, or intrinsic ventricular failure. Such patients will add to the challenge of evaluation and treatment of adults with congenital heart disease.

Adult↗