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Developmental screening of children diagnosed with congenital heart defects.

Children with congenital heart disease (CHD) are more likely than normal children to have developmental delays. The development of 64 children with CHD less than 6 years old was screened with the Denver II. Thirty-five of the 64 children had CHD that required surgical or catheter intervention. These 35 children were significantly less likely than other children with CHD to be normal on developmental screening (46% vs 86%, respectively). Thirty-four percent of children with more severe CHD were referred for early intervention. As research shows the efficacy of early intervention, results indicate the need for early developmental evaluation of children with CHD of hemodynamic significance.

Analysis of Variance↗

[Results of treatment of cyanotic heart defects in children].

Cyanotic heart diseases are relatively rare, but they are severe and heterogeneous congenital heart diseases, which require complex surgery. Development of different advanced surgical procedures, such as arterial switch operation (ASO), Fontan and its modifications, Norwood etc. operations, as well as better perioperative care significantly improved survival rate and quality of life of these children. The study group included 308 children treated for cyanotic heart disease in Yugoslavia, in the period January 2000 to July 2004. Some of them (239, 77.6%) were treated at the University Children's Hospital in Belgrade, and others (69, 22.4%) in different institutions abroad. The age of the operated patients varied between 1 day and 19 years (median 12 months). The patients (pts) were divided into four groups, according to the disease and type of the operation. In the whole group of 308 patients treated due to cyanotic heart disease, there were 232 (75.3%) cases with open heart surgery and 76 (24.7%) with closed procedures. The mortality rate was significantly different between disease/operation groups, and age groups. Average mortality rates differed from 11.8% for palliative procedures to 12.5% for complete corrections. Mortality rate and achieved surgical results in treatment of children with cyanotic heart diseases were significantly worse than those published by leading cardiac surgery centers in the world. However, there is a clear tendency in introducing new surgical procedures, lowering the age at which the operation is done and decreasing the mortality rates.

Adolescent↗

[Hemorheology and morphofunctional characteristics of blood cells in children with congenital heart defects].

Patients with congenital heart diseases (CHD) aged 4 months to 12 years, hospitalized for surgical treatment, were examined. Complex viscosity of the blood and the constituents of this parameter (dynamic viscosity and elastic component) were evaluated in the range of shift strain corresponding to the range of shift velocities 0.37-500 s-1 at a frequency of 2 Hz. The threshold blood fluidity was estimated for evaluating the conditions under which erythrocyte disaggregation begins. The relationship between blood rheology and morphofunctional characteristics of blood cells was evaluated. In accordance with the findings, the patients were divided into 3 groups with different suspension stability of the blood. In group 1 the threshold fluidity approximated the norm. In group 2 with normal blood rheology the shifts were compensated and regulation of rheology was in general intact. In group 3 the hematocrit values, mean erythrocyte volume, mean concentration of hemoglobin in erythrocyte, leukocyte counts, and complex viscosity of the blood were the highest, while the suspension stability was the lowest, which indicates depletion of the adaptive potential of the organism. Hence, blood rheology in patients with CHD differs by the type of regulation, mechanisms and compensation of changes, and depend largely on the mean erythrocyte volume, mean hemoglobin concentration in erythrocytes, and leukocyte counts.

Blood Cell Count↗

[The prognosis of congenital heart defects in changed].

Congenital heart disease occurs in approximately 8 per mille of all live births. The prognosis for these patients has been radically changed throughout the last decades, both for length and for quality of life. Many patients now have a normal or near to normal life expectancy. This is due not only to better surgical techniques, but improvement of anesthesia, myocardial preservation and postoperative intensive care also have contributed to the astonishing results. The early complete and even in details correct diagnosis and the close cooperation between the local practitioner, pediatrician and the central pediatric cardiac unit is basic for optimal treatment benefit.

Echocardiography↗

[Clinical course and diagnosis of congenital heart defects].

An indefinitely formed heart is a compound lesion of the cardiovascular system in which an anatomical examination of the atria does not permit any decisive interpretation of the formation of the heart. The disease can be subdivided into two pathological syndromes. The first syndrome includes a partially patent atrioventricular canal with a joint atrium, an absence of the hepatic segment of the inferior vena cava, a partally anomalous drainage of the pulmonary veins, bilobular lungs, abdominal heterotaxy and polysplenism. The second syndrome is characterized by an open atrioventricular canal with a joint atrium or a cor biloculare, an abberant superior vena cava, or varilateral position of the superior and inferior venae cavae, a completely anomalous drainage of the pulmonary veins, transposition of the major vessels with a stenosis or atresia of the pulmonary artery, trilobular lungs, abdominal heterotaxy and asplenism. The leading role in the diagnosis of the pathology belongs to heart catheterization and angiocardiography.

Abnormalities, Multiple↗

Maternal methylenetetrahydrofolate reductase deficiency and low dietary folate lead to adverse reproductive outcomes and congenital heart defects in mice.

BACKGROUND: Genetic or nutritional disturbances in folate metabolism may affect embryonic development because of the critical role of folate in nucleotide synthesis and methylation reactions. The possible role of a mild deficiency in methylenetetrahydrofolate reductase (MTHFR) and low dietary folate in pregnancy outcomes and heart morphogenesis requires further investigation. OBJECTIVE: We investigated the effect of mild MTHFR deficiency, low dietary folate, or both on resorption rates, on length and weight, and on the incidence of heart malformations in murine embryos. DESIGN: Female Mthfr +/+ and +/- mice were fed a control diet (CD) or a folic acid-deficient diet (FADD) before mating with male Mthfr +/- mice. On gestational day 14.5, implantation and resorption sites were recorded and viable embryos were examined for gross malformations, growth delay, and congenital heart defects. RESULTS: Plasma homocysteine in Mthfr +/- dams and in FADD-treated dams was significantly higher than that in Mthfr +/+ dams and CD-treated dams, respectively. A significantly higher rate of resorption and greater developmental delay were observed in hyperhomocysteinemic mice than in CD-treated +/+ dams. Heart defects were identified in 4 of 11, 5 of 10, and 4 of 10 litters from CD-treated +/-, FADD-treated +/+, and FADD-treated +/- dams, respectively, but not in any of those from CD-treated +/+ dams (0/11 litters). CONCLUSION: Our findings suggest that mild MTHFR deficiency, low dietary folate, or both in the dams increase the incidence of fetal loss, intrauterine growth retardation, and heart defects. These data support the benefit of folic acid supplementation in pregnant women, particularly in those with MTHFR deficiency.

Animals↗

[Electrical instability of the myocardium in patients with acquired heart defects.].

Aim of the study was to investigate electrophysiological state of the myocardium and conduct comparative analysis of informative power of methods of dipole electrocardiography and signal averaged ECG with detection of late ventricular potentials for prognostication of ventricular heart rhythm disturbances in patients with acquired heart defects. Examination of 43 patients with acquired heart defects showed that patients with high grade ventricular extrasystoles significantly more often had late ventricular potentials, prolonged interval corresponding to maximal values of activation area, area of fresh activation, and diminished vector of repolarization acceleration and its components.

Arrhythmias, Cardiac↗

Cosmetic approach for correction of simple congenital heart defects in female patients.

OBJECTIVE: Much more concern is recently paid to the cosmetics when simple congenital heart defect is repaired. Here we present the reversed U-shaped skin incision with lower partial sternotomy for juvenile or adult female patients. METHODS: Four patients with atrial septal defect (ASD) and one patient with ventricular septal defect underwent the operation with this method. Patients' ages ranged from 5 to 46 years old. RESULTS: Postoperative recovery in all cases was uneventful. Only the middle portion of the operative scar was visible when the breast was well developed. The scar was completely covered by the brassiere. A numbness of the upper medial portion of the left breast was recognized in one initial patient, who underwent ASD closure and concomitant right-side Maze procedure, necessitating a wider dissection than that used for other patients. CONCLUSION: A reversed U-shaped skin incision with a lower sternotomy could provide relatively comfortable operative fields for cardiac surgeons, and be cosmetically appealing to female patients who require a repair of simple congenital heart defect.

Adolescent↗

Development of Down's syndrome infants with and without heart defects and changes in their caretaking environment.

The purpose of this study is two-fold: (1) to describe developmental and family characteristics of infants with Down's syndrome who were enrolled in an intervention programme; and (2) to examine developmental and caretaking patterns related to maternal age and congenital heart defects. Infants and their home environment were assessed at about 3 1/2 months and at 24 months of age. A sample of normal infants of equivalent developmental age were also tested for comparison. We found that while the infants with Down's syndrome showed a significant decline in their developmental quotient compared to the normals, their home environments resembled those of the normal group, particularly at the pretest. Yet, there were more improvements in the homes of the group of normal infants than in the homes of the infants with Down's syndrome, mainly in maternal responsivity. Older mothers restricted their infants with Down's syndrome more than younger mothers, but otherwise they did not seem to differ from each other. Infants with Down's syndrome without heart defects were provided with a better home environment than were infants with Down's syndrome with a heart defect. These results are discussed in the light of the biological limitations placed on the Down's syndrome infants and difficulties in parental adaptation to the diagnosis of Down's syndrome.

Child, Preschool↗

[Pre- and postoperative erythrocyte volume distribution curves in children with cyanotic heart defects].

The behaviour of the volume distribution curves (VVK) of red blood cells in children with cyanosed organic heart defect is reported by taking preoperative and postoperative observations as a basis. MCV determined from the volume distribution curve amounts to 80.3 micron3. If the volume distribution curves of the preoperative patient group are compared with the postoperative patient group (4 months) by means of the criteria DSmax, DS, inclination and dispersion, no significant changes can be identified. Therefore, shifting maturity divisions cannot be assumed in children with cyanosed organic heart defects, even in those with a preoperative hypoxia of a high degree.

Adolescent↗

Increased nuchal translucency and congenital heart defects in a low-risk population.

OBJECTIVE: Increased first-trimester nuchal translucency (NT) is a possible marker for congenital heart defects in euploid fetuses. In this study, we wanted to determine the sensitivity for congenital heart defects using the 95th centile of the NT as a cut-off point. METHODS: All women who booked for delivery in our hospital in the first trimester underwent NT measurement at a crown-rump length (CRL) of between 35 and 75 mm. In all euploid fetuses and newborns with isolated or associated CHD, NT was examined retrospectively and classified as normal (<95th centile according to CRL-dependent centiles in our own data) or increased (> or =95th centile). RESULTS: From a total of 12,978 euploid fetuses screened, 27 had CHD (22 isolated and 5 cases associated with additional malformations). Moreover, 7 of the 27 fetuses also had increased NT (26%). Increased NT was significantly more frequent in fetuses with associated CHD (4/5) than in those with isolated CHD (3/22, Yates corrected chi2 p=0.012). In fact, the relative risk for CHD was 6.6 times higher in fetuses with increased NT compared to those with normal NT. CONCLUSION: Increased NT for the detection of CHD performed less well than in other studies. Nevertheless, it can be used as an indication for fetal echocardiography.

Adolescent↗

Sex, birth order, and maternal age characteristics of infants with congenital heart defects.

The records of the New England Regional Infant Cardiac Program, a service program covering all of New England, provide a useful source of information about the characteristics of children born with congenital heart defects. Data were analyzed on more than 2000 children born in New England who were diagnosed with a congenital heart defect before the first birthday. Children with arterio-venous fistula, aortic stenosis, transposition of the great arteries or hypoplastic left ventricle were predominantly male; children with persistent ductus arteriosus and endocardial cushion defect were predominantly female. Positive trends in risk with increasing birth order were present for pulmonic stenosis and transposition of the great arteries, and a negative trend was seen for persistent ductus arteriosus. What evidence there was for associations with maternal age was greatly reduced after controlling for confounding by birth order.

Adult↗

Molecular characterization of chromosome 22 deletions by short tandem repeat polymorphism (STRP) in patients with conotruncal heart defects.

The haploinsufficiency of chromosome 22q11.2 can cause both DiGeorge and velocardiofacial syndromes, both of which are characterized by conotruncal heart defects as well as a wide range of other extracardiac anomalies. Several studies have demonstrated that approximately 10-20% of patients with conotruncal heart defects have a 22q11.2 deletion. In clinical laboratories, the deletion is usually detected by fluorescent in situ hybridization (FISH). We set up a polymerase chain reaction-based non-radioactive method for molecular analysis of the 22q11.2 region in conotruncal cardiac patients with conotruncal defects. Sixty-four children with conotruncal defects and their parents were genotyped by polymerase chain reaction, using fifteen polymorphic markers. We identified nine deletions (confirmed by FISH): eight were "de novo" and one familial, maternally inherited. Six deletions were of paternal and three of maternal origin. There were seven deletions of 3 Mb and the other two were of 1.5 Mb. This method is a cost-effective means of characterizing the 22q11.2 region and it can be applied for a rapid screening of 22q11.2 deletion in patients at risk. In agreement with previously published data, we found no correlation between the sizes and the parental origin of deletions and cardiac or extra-cardiac phenotypes.

Adolescent↗