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PubMed1984

Congenital heart defects and twinning.

A preliminary analysis of twins or triplets with heart defects, ascertained in five centres, confirms earlier suggestions that monozygotic (MZ) twins are over represented among twins with heart defects, even after excluding persistent ductus arteriosus and conjoined twins. An MZ twin individual has a risk of cardiovascular malformation approximately twice that of DZ twins and singletons. It is suggested that the twinning process itself affects one of the pair. Disturbance of laterality ('mirror imaging') is probably a more important mechanism than twin-twin transfusion. Inappropriate use of the twin method in the past has caused the importance of genetic factors in the etiology of congenital heart defects to be underestimated. Nevertheless, twins do provide a useful illustration of the likely importance of epigenetic factors in heart development.

Diseases in Twins↗
PubMed2001

Maternal prepregnancy weight and congenital heart defects in offspring.

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).

Adult↗
PubMed1990

Management of major tracheal hemorrhage after repair of complex congenital heart defects.

Two patients with complex congenital heart defects (a 4-year-old with transposition of the great arteries, ventricular septal defect, and left ventricular outflow tract obstruction and a 3 1/2-year-old with double-outlet right ventricle, subpulmonary stenosis, and complete atrio-ventricular septal defect) suffered multiple major hemorrhages from the tracheobronchial tree (28 and 7 bleeding events, respectively). Successful management included tracheostomy, sedation and paralysis, systemic hypotension, and systemic hypothermia for a period of seven days. Both patients survived.

Anesthesia↗
PubMed1981

Quantitative thallium-201 myocardial imaging in assessing right ventricular pressure in patients with congenital heart defects.

Thallium-201 myocardial scintigraphy was performed in patients with congenital heart defects to determine whether, by quantification of right ventricular isotope uptake, one could assess the degree of right ventricular hypertrophy and so predict the level of right ventricular pressure. A total of 24 patients ranging in age from 7 months to 30 years was studied; 18 were studied before corrective surgery and six after operation. All but three had congenital heart defects which had resulted in pressure and/or volume-overload of the right ventricle. At routine cardiac catheterisation, 20 microCi/kg thallium-201 as thallous chloride was injected through the venous catheter and myocardial images were recorded in anterior and left anterior oblique projections; these were subsequently analysed quantitatively and qualitatively. Insignificant right ventricular thallium-201 counts judged as being less than 1 per cent of the injected dose or less than 0.3 of the left ventricular counts were present in six patients all with right ventricular peak systolic pressure less than 30 mmHg. In the remaining 18 patients there was a good correlation between the right ventricular/left ventricular peak systolic pressure ratio and the right ventricular/left ventricular thallium-201 counts ratio. All patients with right ventricular/left ventricular peak systolic pressure less than 0.5 had right ventricular/left ventricular thallium-201 counts less than 0.4. Qualitative evaluation of right ventricular isotope intensity proved helpful mainly in distinguishing the patients with right ventricular pressures at or above systemic levels. Thus quantitative analysis of myocardial imaging with thallium-201 is of use clinically in patients with congenital heart defects, in assessing the severity of pulmonary stenosis or the presence of pulmonary artery hypertension.

Adolescent↗
PubMed2004

Conotruncal heart defects: impact of genetic syndromes on immediate operative mortality.

BACKGROUND: The surgical outcome of conotruncal heart defects in patients with genetic syndromes has been poorly studied. The aim of this prospective 5-year multicenter study was to elucidate the post-surgical death rate of children with conotruncal heart defects in relation to the presence of associated genetic syndromes. METHODS: Two institutions enrolled 350 consecutive inpatients with conotruncal heart defects, aged between 1 day and 60 months, who were submitted to surgery; all patients were evaluated by a clinical geneticist and had a standard metaphase chromosome analysis and a fluorescent in situ hybridization study searching for deletion of chromosome 22q11 (del22q11). RESULTS: No genetic syndrome was diagnosed in 289 patients; among the other 61 patients, 27 had DiGeorge velocardiofacial syndrome (del22q11), 16 patients had Down syndrome, and 18 presented with other genetic syndromes. The overall post-surgical death rate was higher in syndromic patients (18%) than in non-syndromic ones (10.7%) with a relative risk of 1.9 (p = 0.06). However, children with del22q11 showed a higher risk for surgical mortality (25.9 vs 10.7%; relative risk 2.4, p = 0.03). Del22q11 was identified as a risk factor for immediate surgical mortality in patients with pulmonary atresia and ventricular septal defect and in patients with interrupted aortic arch. CONCLUSIONS: Down syndrome is not a risk factor for surgery in children with conotruncal heart defects. The presence of a del22q11 may influence the surgical results in children with pulmonary atresia and ventricular septal defect and in those with interrupted aortic arch. Patients with genetic syndromes other than del22q11 and Down syndrome have a higher surgical mortality compared to that observed in non-syndromic patients. These data may be useful for preoperative counseling and for the elaboration of specific protocols of perioperative treatment.

Child, Preschool↗
PubMed1984

Sacral meningocele with conotruncal heart defects: a possible autosomal recessive trait.

Three of four siblings had sacral meningocele with subsequent development of hydrocephaly; two died during the neonatal period due to conotruncal heart defects (transposition of the great vessels and truncus arteriosus type I, respectively). An in utero diagnosis of open neural tube defect was made on the third sibling; persistent slightly elevated alpha-fetoprotein levels in amniotic fluid and increased number of rapidly adhering cells in short term amniotic cell culture were found. The unique combination of sacral meningocele and conotruncal malformations in this sibship suggests a new autosomal recessive condition. It also emphasizes the heterogeneity of both the open neural tube defects and congenital heart defects. Awareness of this variant is necessary in regard to the 25% recurrence risk instead of the 3% to 5% recurrence risk given for both congenital heart defects and open neural tube defects as isolated anomalies. The difficult prenatal diagnosis for the small neural tube defect should be appreciated.

Female↗
PubMed2005

Congenital heart defects and maternal biomarkers of oxidative stress.

BACKGROUND: Women who have had pregnancies that were affected by nonsyndromic congenital heart defects have alterations in the homocysteine-methionine pathway that may indicate increased exposure to oxidative stress or reduced antioxidant defense or both. OBJECTIVE: Our goal was to establish a maternal metabolic risk profile for nonsyndromic congenital heart defects that would enhance current preventive strategies. DESIGN: Using a case-control design, we measured biomarkers of the transsulfuration pathway in a population-based sample of women whose pregnancies were affected by congenital heart defects (331 cases) and in a control group of women (125 controls). Plasma concentrations of reduced and oxidized glutathione, vitamin B-6, homocysteine, cysteine, cysteinylglycine (CysGly), and glutamylcysteine (GluCys) were compared between cases and controls after adjustment for lifestyle and sociodemographic variables. RESULTS: After covariate adjustment, cases had significantly lower mean plasma concentrations of reduced glutathione (P < 0.0001), GluCys (P < 0.0001), and vitamin B-6 (P = 0.0023) and significantly higher mean concentrations of homocysteine (P < 0.0001) and oxidized glutathione (P < 0.0001) than did controls. CONCLUSIONS: Biomarkers of oxidative stress involved in the transsulfuration pathway were significantly higher in women with pregnancies affected by congenital heart defects than in women without such a history. Further analysis of relevant biomarkers of oxidative stress and genetic and environmental factors is required to define the basis for the observed alterations. Identifying the nature and extent of alterations in biomarkers of oxidative stress may suggest primary intervention strategies and provide clues to a greater understanding of the pathogenesis of congenital heart defects.

Adult↗
PubMed1981

Lung biopsy with frozen section as a diagnostic aid in patients with congenital heart defects.

In eight patients with congenital heart defects and equivocal preoperative hemodynamic data, lung biopsy with frozen section was performed and quantitative morphometric analysis carried out to help select a palliative or corrective surgical procedure. During catheterization it had been possible in only six of the eight patients to enter the pulmonary artery and obtain pressure measurements; four patients had moderate to severe elevation of pulmonary vascular resistance whereas the other two had only mild elevation of pulmonary arterial pressure, but they were being considered for a Fontan procedure. The lung biopsy tissue was taken inflated and fixed inflated in hot glutaraldehyde. From cryostat sections arterial concentration was assessed relative to alveolar concentration, and the degree of arterial muscularity was assessed by wall thickness and extension of muscle; the more advanced Health-Edwards arterial changes were also evaluated. On the basis of the morphologic assessment, six of the eight patients underwent corrective surgery and two underwent a palliative procedure. Postoperative hemodynamic data available in four of the patients who underwent corrective surgery revealed either a significant reduction in pulmonary vascular resistance or return to a normal level of pulmonary arterial pressure, whereas no change has occurred in the one patient studied who underwent a palliative procedure. Assessment of pulmonary arterial development and structure on lung biopsy with frozen section proved helpful in deciding between a palliative and corrective surgical procedure.

Adolescent↗
PubMed2004

[Congenital heart defects in the adult: towards nonsurgical interventionism].

The classical treatment for congenital heart defects in adult patients has been surgical correction. Since the publication of Rashkind and Gruntzig's studies, interventional cardiology approaches have been developed to treat congenital and acquired heart defects. We discuss the current applications of this form of treatment and communicate our experience with percutaneous transcatheter procedures in adult patients for pulmonary valve stenosis, aortic valve stenosis, native coarctation, postsurgical coarctation, peripheral pulmonary artery stenosis, atrial septal defect, ventricular septal defect, ductus arteriosus and embolization therapy. We conclude that interventional treatment in adults with congenital heart defects is safe and feasible, that the indications for this approach to treatment are increasing, that it can be undertaken in patients of any age including high-risk patients, and that as with all interventional procedures, the learning curve must be successfully surmounted.

Adult↗
PubMedDate not supplied

Surgical management of congenital heart defects: current trends.

Surgical treatment for congenital heart disease has become available over the last five decades. Palliative procedures have been designed to improve physiologic abnormalities, for example systemic artery (or venous) to pulmonary artery shunts of various types to increase the pulmonary blood flow, pulmonary artery constriction (banding) to decrease the pulmonary blood flow, and surgical or transcatheter atrial septostomy to augment intracardiac mixing. These can be performed with a low mortality. The majority of congenital heart defects can be corrected by open heart surgical techniques; some require prior palliation and others can be operated without prior palliative surgery. Recent surgical advances include early total surgical correction for tetralogy of Fallot, arterial switch procedure for transposition of the great arteries, Fontan operation and its modifications for tricuspid atresia and single ventricle, new operations for hypoplastic left heart syndrome, newer prosthetic valves, myocardial preservation and cardiac transplantation.

Cardiac Surgical Procedures↗
PubMed1990

[Consequences of late diagnosis and long-term conservative treatment of patients with congenital heart defects].

Of adult patients of the Cardiac Defects Clinic, National Institute of Cardiology (in Warsaw) we can distinguish several groups of patients with congenital heart defects among which those who were diagnosed after the age of 18 or those who despite of early and correct diagnosis, not underwent surgery on the childhood due to many reasons. In this paper we analyzed the group of 218 patients treated in our clinic between 1981-1987; 103 women aged 13-64 (mean-32 years) and 115 men aged 15-58 (mean-28 years). We classified congenital heart defects into 6 group: ASD, VSD, Tetralogy of Fallot, Persistent Ductus Arteriosus, Coarctation of Aorta and others (19.2%). We classified the range of health care before admission to our Department into the following categories: cardiosurgery (palliative or total correction); no therapy after congenital heart defects diagnosis; medical treatment after diagnosis; admission to our clinic immediately after the diagnosis of a heart defect. We compared that range of health care with qualifications of our Institute-(1. qualification for operation, 2. contraindication for operation, 3. operation unnecessary as the defect is not significant). We conclude basing on our results that, late diagnosis of a congenital heart defect does not finally effect on cardiosurgery possibilities. the majority of patients with C.H.D. have been waiting for many years for a specialist diagnosis and optimal therapeutic decision. long term conservative therapy of the patients with C.H.D. significantly reduces the changes of surgical correction.

Adolescent↗
PubMed2000

The correction of congenital heart defects with less invasive approaches.

BACKGROUND: The minimally and less invasive approaches for the surgical treatment of different heart diseases are rapidly increasing because of their cosmetic and recovery-related advantages. Presented here are the results of less invasive surgery in 51 patients with congenital heart defects. METHODS: From June 1996 to January 1999, we used less invasive techniques for the correction of congenital heart defects in 51 patients. In 32 patients, we performed right anterolateral thoracotomy (6-13 cm), and on the other 19 patients, we used the partial inferior sternotomy (4-7 cm). The ascending aorta and the caval veins were cannulated in all patients. RESULTS: The following congenital heart defects were corrected: ostium secundum atrial septal defect (n = 35), sinus venosus atrial septal defect with partial anomalous pulmonary venous connection (n = 7), ventricular septal defect (n = 7), tetralogy of Fallot (n = 1), and cor triatriatum sinistrum (n = 1). The average age of the patients was 15 years old ranging from 2 months to 48 years and the average weight 39.6 kg (range 3.8-86 kg). The patients were removed from artificial respiratory support on average 8 hours (range 1-48 hours) after surgery and left the hospital after 7 days (range 2-10 days). In 16 patients, blood transfusions were required, an average 5.7 ml/kg BW (range 1.45-19.75 ml/kg BW). The postoperative course was uneventful in all patients. Follow-up (range 3-33 months, mean 17.5 months) was complete with no late deaths or residual defects. CONCLUSION: The right anterolateral thoracotomy and the partial inferior sternotomy provide a safe approach for the correction of certain congenital heart defects. These techniques enable operative correction without any additional risks being incurred and can be performed with standard instruments and cannulation. Additional approaches for extracorporeal circulation are unnecessary.

Adolescent↗
PubMed1999

[Prenatal diagnosis of heart defects and associated chromosomal aberrations].

AIM: According to epidemiological studies on newborns, the association of congenital heart defects with chromosomal anomalies varies between 4 and 12%. Prenatally this rate is probably higher, due to antenatal death occurring in fetuses with chromosomal aberrations. The aim of the study was therefore to determine the rate and the distribution of chromosomal aberrations in prenatally detected heart defects. PATIENTS AND METHOD: Within a period of 7 years fetal echocardiography was performed on 2716 fetuses at high risk for CHD. The analysis of the fetal heart was achieved by the visualization of different planes. Once a heart defect was detected, karyotyping was performed after amniocentesis, cordocentesis or chorion villous sampling, or in a few cases postnatally from cord blood. Prenatal ultrasound findings were confirmed postnatally by ultrasound examination or, in case of abortion, stillbirth or neonatal death, by autopsy. RESULTS: A total of 203 fetal heart malformations were detected and 46 of them (22%) had associated chromosomal anomalies. 60% of all cases and 80% of the study group had extracardiac anomalies. Only eight out of the 46 pregnant women (17.5%) were older than 35 years. Eight out of the 15 fetuses with trisomy 18 had a ventricular septal defect, 9/13 fetuses with trisomy 21 had an atrioventricular septal defect and all 5 fetuses with monosomy X had a left heart outflow obstruction. No typical cardiac defects were found in the remaining 13 fetuses (5 trisomy 13, 2 triploidies, 6 miscellaneous). Of the 13 live births (23 terminations of pregnancy and 10 intrauterine deaths) 6 children survived (46% and overall survival rate 13%). The following rates of associations with aneuploidies were found: atrioventricular septal defect 55%, ventricular septal defect and aortic coaction both 43%, tetralogy of Fallot and double outlet right ventricle both 36%. In comparison, fetuses with isomerism, transposition of the great arteries and pulmonary atresia or stenosis had normal chromosomes. CONCLUSION: We conclude that the rate of association of heart defects and chromosomal abnormalities is higher prenatally than in the neonatal period and is approximately 22%. After detecting a fetal cardiac malformation, karyotyping is mandatory for the further management of pregnancy. The likelihood of detection of an aneuploidy increases when some typical heart defects are detected or when an association with extracardiac anomalies is found.

Amniocentesis↗
PubMed2006

Neurocognitive consequences of surgically corrected congenital heart defects: A review.

With advances in surgical procedures, neuropsychological assessment after congenital heart defects and pre, peri- and/or postoperative predictors of adverse outcome has become an important focus in research. We aim to summarize neuropsychological sequelae associated with different types of congenital heart defects, critically review the methodology used in more than 20 empirical studies that were retrieved from biomedical electronic search engines, and identify possible directions for future research. Despite the lack of adequate control groups and long-term studies, there seem to be some cognitive deficits. The largest group of children with isolated congenital heart defects present with normal intellectual capacities. However, they tend to show language deficits and motor dysfunction. Although performances on memory tasks are good, unambiguous conclusions concerning their attentional and executive functioning are still lacking. Serious behavioral problems are not an issue. In addition to a detailed description of the (neuro) psychological consequences of pediatric cardiac surgery, an overview of the predictors of the cognitive defects is provided.

Brain Damage, Chronic↗
PubMed2000

Mortality rates after surgery for congenital heart defects in children and surgeons' performance.

BACKGROUND: A public inquiry into surgery for paediatric congenital heart defects in Bristol, UK, underscored the need for reliable data on overall mortality rates, which would allow assessment of individual surgeons' performance. We aimed to gather and report such data for 1 year to provide information for clinicians, researchers, policy makers, and the general public. METHODS: We collected data on all operations (1378) for congenital heart defects done by 11 surgeons in five departments in the UK between April 1, 1997, and March 31, 1998. These operations represented about 36% of all operations done in the UK during that time. Clearly defined criteria were agreed to classify operations into subgroups. FINDINGS: The overall mortality rate for all operations was 4.0% (95% CI 3.0-5.2). No deaths occurred for 67 arterial-switch operations. Mortality rates for coarctation, ventricular septal defect, atrioventricular septal defect, Fallot, and truncus arteriosus operations were 1.1%, 0.6%, 3.6%, 2.3%, and 28.6%, respectively. Although overall mortality rates between surgeons varied (1.6-6.9%), no surgeon's were higher than the 95% CI. The numbers of operations done by individual surgeons were small, which led to wide confidence intervals and made the detection of differences in performance difficult. INTERPRETATION: The participating departments seemed to reach high standards of care for children with congenital heart defects, although more data would be needed to assess performance of individual surgeons. The development of quality standards will be difficult because of the complexity of defects, the different types of operations, and few patients in each subgroup. Collection of larger sets of data for more patients and centres are needed.

Aortic Coarctation↗
PubMed1982

Electrophysiologic residua and sequelae of surgery for congenital heart defects.

Postoperative arrhythmias may occur in any patient who undergoes intracardiac surgery for a congenital heart defect. The correction of certain intracardiac heart defects predisposes to a large incidence of cardiac arrhythmias. Ventricular arrhythmias and conduction disturbances are seen after correction of tetralogy of Fallot, ventricular septal defect and atrioventricular canal defect. Supraventricular arrhythmias and sinus nodal dysfunction may be seen after surgery for transposition of the great arteries or atrial septal defect. The identification, evaluation and treatment of these patients are discussed.

Arrhythmias, Cardiac↗
PubMed1999

Chest roentgenogram in the evaluation of heart defects in asymptomatic infants and children with a cardiac murmur: reproducibility and accuracy.

OBJECTIVES: To evaluate the reproducibility and the accuracy of pediatric radiologists' assessments of chest radiographs with respect to the presence or absence of heart defects in children with an asymptomatic heart murmur. DESIGN: Ninety-eight children, ages 1 month to 15 years (median, 30.1 months), referred for evaluation of a heart murmur were consecutively included. They all had a standard chest radiograph and a color Doppler echocardiograph (CDE) performed. Six specialists in pediatric radiology evaluated the chest radiographs independently on two occasions 6 months apart. The radiologists were asked to classify each set of films into one of two categories: heart disease or no heart disease. The outcome of the CDE was considered the definite diagnosis. kappa statistics were used to analyze the reproducibility of the radiologic assessments. Sensitivity, specificity, and the predictive value of a positive and a negative test were used for evaluation of the accuracy of the radiologic assessments. RESULTS: Mean intra- and interobserver kappa values were all <0.6, and the majority were <0.4. Mean sensitivity was 0.3 (range: 0.17-0.52), mean predictive value of a positive test was 0.4, implying that 60% of the positive assessments were falsely positive. Mean specificity was 0.86 (range: 0.75-0.93) and the mean predictive value of a negative test was 0.80 implying that 20% of the negative assessments were falsely negative. CONCLUSION: We found a low reproducibility, as well as a low accuracy, of the radiologic assessments of the chest radiographs of children with an asymptomatic heart murmur with respect to the presence or absence of heart disease. A false-positive radiologic assessment of the chest radiograph with respect to heart defects causes unnecessary anxiety and further examinations, whereas a false-negative assessment might result in omission of relevant investigations and proper identification of the heart defect. We cannot recommend the use of chest radiographs in the initial evaluation of the asymptomatic child with a heart murmur. If a heart defect cannot be excluded by clinical examination a CDE must be performed.

Adolescent↗
PubMed1985

[Changes in respiratory function, functional and true intrapulmonary shunts and acid-base state depending on the type of heart defect].

The respiratory disorders in various kinds of heart defects were studied in 226 patients with acquired heart defects. The following indices were determined: external respiration, alveolar ventilation, alveolar-capillary diffusion, functional and real intrapulmonary shunts and acid-base state. The complex studies via numerous indices, juxtaposed in the separate defects, revealed various stages of manifestation of the respiratory disorders according to the kind of defect, at identical degree of cardiac insufficiency. The lightest proved to be the respiratory disorders in combined aortic defects and most manifested--in biaxial defects (mitral and aortic). In mitral defects with predominant stenosis, the respiratory disorders are better manifested as compared with those with predominant insufficiency, and for some of the indices--they are considerable.

Acid-Base Equilibrium↗