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PubMed1999

Maternal smoking and congenital heart defects.

The Swedish Child Cardiology Registry (CCR) and the Swedish Medical Birth Registry (MBR) were used to investigate a possible association between maternal smoking during pregnancy and congenital heart defects. Among 1,413,811 infants born in 1983-1996 with known smoking exposure in early pregnancy, 3384 infants with congenital heart defects were selected (458 term infants with persistent ductus arteriosus (PDA) identified from MBR or CCR, and 2926 infants with other heart defects, identified from CCR). After controlling for year of birth, maternal age, parity, and educational level, a weak, statistically significant association between all heart defects and maternal smoking was found (odds ratio (OR): 1.09; 95% confidence interval (CI): 1.01-1.19). When infants with isolated PDA were removed from the case group the significance disappeared (OR: 1.07; 95% CI: 0.98-1.17). For truncus abnormalities (OR: 1.23; 95% CI: 1.02-1.49), atrial septal defects (OR: 1.63; 95% CI: 1.04-2.57), and PDA (OR: 1.30; 95% CI: 1.05-1.62), a rather strong effect of maternal smoking was indicated. The increased OR for PDA remained when gestational duration and intrauterine growth was also controlled for. Further research based on independent data sets is needed to conclude whether the risk estimates for maternal smoking are true and truly differ between the groups. The classification system used (with 24 classes) is described in enough detail to permit a repetition of the study.

Confounding Factors, Epidemiologic↗
PubMed2003

Common congenital cyanotic heart defects--diagnosis and management.

Congenital cyanotic heart defects are leading causes of neonatal and infant mortality. These babies, if left untreated, deteriorate rapidly in hours. There lies the urgency of early diagnosis and management. The author has elaborated the issue, in brief, in this article.

Child↗
PubMed1993

Second natural history study of congenital heart defects. Quality of life of patients with aortic stenosis, pulmonary stenosis, or ventricular septal defect.

BACKGROUND: Quality of life of patients with congenital heart defects is an important aspect of the assessment of outcome of medical and surgical treatment. METHODS AND RESULTS: All participants in the Second Natural History Study of Congenital Heart Defects who completed the study questionnaire were included in this analysis. The questionnaire completed by the patients included inquiries relative to medical history, marital and family life, self-perception of well-being, insurability, and employability. The following general observations were apparent. The study cohort reported a self-perception of health status that was similar to that of the general population. Second, 35-40% of patients had not had a cardiac evaluation within the previous 10 years. Third, 16% of the patients had no health insurance, and 35.7% of the patients had no life insurance. For the patients with pulmonary stenosis and ventricular septal defect, the percent who were married was less than that of the corresponding national age- and sex-specific population. For patients with aortic stenosis, the percent married was greater than that of the general population for some age groups. The proportion of divorced or separated individuals was similar to that of the general population. For all three defects, the level of educational attainment exceeded the national average. Last, unemployment rates were similar to national averages except for women with aortic stenosis, who had a significantly higher unemployment rate than did age- and sex-matched controls. CONCLUSIONS: Patients initially identified with aortic stenosis, pulmonary stenosis, or ventricular septal defect in 1959-1973 have a quality of life in the mid-1980s similar to that of the general US population.

Adult↗
PubMed2005

Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect.

Velocardiofacial syndrome is identified by a submicroscopic deletion of chromosome 22q.11 (del22q.11). This study presents data on the early motor development and behaviour of 11 children (8 males, 3 females) with del22q.11 (mean age 41mo, SD 9.7mo) with a congenital heart defect. To control for the impact of the congenital heart defect, a control group of 19 children (15 males, 4 females; mean age 46mo, SD 9mo) with the same types of congenital heart defects but without del22q.11 was selected. Motor development in both groups was measured with the Peabody Developmental Motor Scales-2. Behaviour was assessed with the Child Behaviour Checklist. Children with del22q.11 scored significantly lower (p<0.05) on motor performance than the children of the control group. Most deficient motor skills were found for the subtests Locomotion and Stationary. On the behaviour questionnaire, a statistically significant (p<0.05) difference between the two groups was found only for the subscale Withdrawn. These data reveal a significant motor delay in many young children with del22q.11, which is not caused by the presence of a congenital heart defect or by behavioural features.

Case-Control Studies↗
PubMed2002

Heart defects and ocular anomalies in children with Down's syndrome.

AIMS: To investigate whether ocular anomalies are associated with congenital heart defects in children with Down's syndrome. METHODS: 58 children with Down's syndrome were entered into a retrospective observational study. Children were assigned to heart defect groups based on medical records. Optometric tests had previously been carried out at the homes of the children. RESULTS: A relation between congenital cardiac defects, myopia, and nystagmus was observed. Heart problems were not related to accommodative insufficiency, hyperopia, or strabismus. CONCLUSION: In children with Down's syndrome heart defects were associated with both myopia and nystagmus.

Accommodation, Ocular↗
PubMed2000

Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects.

BACKGROUND: Cytogenetic evidence suggests that the haploinsufficiency of > or =1 gene located in 8p23 behaves as a dominant mutation, impairing heart differentiation and leading to a wide spectrum of congenital heart defects (CHDs), including conotruncal lesions, atrial septal defects, atrioventricular canal defects, and pulmonary valve stenosis. An 8p heart-defect-critical region was delineated, and the zinc finger transcription factor GATA4 was considered a likely candidate for these defects. We narrowed this region and excluded a major role of GATA4 in these CHDs. METHODS AND RESULTS: We studied 12 patients (7 had CHD and 5 did not) with distal 8p deletions from 9 families by defining their chromosome rearrangements at the molecular level by fluorescent in situ hybridization and short-tandem repeat analysis. Subjects with 8p deletions distal to D8S1706, at approximately 10 cM from the 8p telomere, did not have CHD, whereas subjects with a deletion that included the more proximal region suffered from the spectrum of heart defects reported in patients with 8p distal deletions. The 5-cM critical region is flanked distally by D8S1706 and WI-8327, both at approximately 10 cM, and proximally by D8S1825, at 15 cM. Neither GATA4 nor angiopoietin-2 (ANGPT2; a gene in 8p23 involved in blood vessel formation) were found to be deleted in some of the critical patients. We also found that CHDs are not related to the parental origin of deletion. CONCLUSIONS: Haploinsufficiency for a gene between WI-8327 and D8S1825 is critical for heart development. A causal relationship does not seem to exist between GATA4 and ANGPT2 haploinsufficiency and CHDs.

Adolescent↗
PubMed2001

[Electrocardiographic signs of autonomic imbalance in infants with congenital heart defects].

Infants with congenital heart disease (CHD) and heart failure have elevated plasma norepinephrine levels (NE) as a sign for sympathetic activation. We analysed ECGs of 64 infants with CHD and found normal heart rates on average in four groups split up according to their NE. Mean heart rate in Holter ECGs was significantly reduced in infants with low NE (below 350 ng/l) but normal in the other groups (NE < 350 ng/l: 121 +/- 10/min; NE = 350-700 ng/l: 139 +/- 11/min; NE = 700-1300 ng/l: 142 +/- 13/min; NE > 1300 ng/l: 135 +/- 12/min). An analysis of heart rate variability in a subgroup of 25 infants showed significantly reduced values in patients with elevated NE in comparison to 70 healthy infants. Significantly reduced frequency domain measures in infants with elevated NE but also normal NE are evidence for a high diagnostic sensitivity of an analysis of heart rate variability for autonomic imbalance with sympathetic activation and parasympathetic withdrawal in infants with CHD.

Age Factors↗
PubMedDate not supplied

Geographical distribution of congenital heart defects in Saudi Arabia.

BACKGROUND: Congenital heart defects (CHD), which are caused by abnormalities early in fetal life, encompass over 50 diagnoses. Since the detailed etiology is unknown, the geographical distribution of defects might suggest likely risk factors. METHODS: The geographical distribution of 5 865 Saudi Arabian nationals with CHD was studied by cross-matching their residential provinces and towns with a geographical information system provided by the General Directorate for Military Survey. Population data were obtained from the 1413H census. RESULTS: CHD cases were mostly distributed across the provinces in proportion to their total population but due to their size and inhomogeneity, province-based thematic maps were found to be misleading. City-based maps were preferable and showed similar geographic distributions for cases registered in successive years. Thematic maps of the distribution of the CHD burden highlighted the southwestern provinces, nearthe border with Yemen, and the northeast section of the Eastern Province. CONCLUSIONS: Patterns of disease in Saudi Arabia are best studied at the level of individual towns and villages. The CHD registry has already attained good national coverage and can therefore support nationwide epidemiological studies. Southwestern Saudi Arabia and the northern part of the Eastern Province appear to exhibit a higher burden of CHD.

Heart Defects, Congenital↗
PubMed2003

Maternal periconceptional alcohol consumption and risk for conotruncal heart defects.

BACKGROUND: In this study we investigated whether the risk of delivering infants with conotruncal heart defects was increased among mothers who consumed alcohol during the periconceptional period (i.e., 1 month before conception to 3 months after conception). METHODS: Data were obtained from a population-based case-control study of California births from 1987-1988. Information concerning alcohol consumption was obtained via telephone interviews with mothers of 207 (87% of eligibles) case infants and 481 (76%) nonmalformed control infants. RESULTS: Bivariate results indicated that relative to nonconsumers, women who consumed alcohol less than once a week had a 1.3-fold increased risk of delivering infants with a conotruncal heart defect (95% confidence interval (CI) 1.0, 1.9), and women who consumed alcohol once a week or more had a 1.9-fold increased risk (95% CI 1.0, 3.4). The risks associated with consuming five or more drinks per drinking occasion were 1.6 (95% CI 0.8, 3.2) for less than once a week, and 2.4 for once a week or more (95% CI 0.6, 9.7). The results for the phenotypic subgroups were similar to those for all cases. Adjustment for potential covariates resulted in somewhat weaker, but still elevated, risks. CONCLUSIONS: This study found that the risk of conotruncal heart defects in offspring was moderately elevated among women who consumed alcoholic beverages during the periconceptional period, and that risk was higher with increased frequency of drinking or increased number of drinks consumed per occasion. Most of the risk estimates were imprecise, and chance could not be ruled out as an explanation for the observed findings.

Adult↗
PubMed2004

[Effects of taurine on the heart defects in chick embryos which induced by homocysteine].

OBJECTIVE: To explore the effects of taurine on the heart defects in chick embryos induced by homocysteine (HCY). METHODS: Through the teratogenicity test of Chick Embryos, the taurine and HCY were given to yolk sac of 3 day's chick embryos. Histopathological examination after another 2 days culture. RESULTS: The occurrence of heart defects on HCY group were significantly increased. The growth of vitelline vessels was decreased. The prevention of tautine on the heart defects in chick embryos induced by HCY was very significantly effective. CONCLUSION: Taurine can prevent the developmental disturbance of hearts induced by HCY in this experiment.

Animals↗
PubMed2003

Left-to-right shunting in common congenital heart defects: which patients are eligible for percutaneous interventions?

Atrial septal defects, atrio-ventricular septal defects, ventricular septal defects and the persistent arterial duct are the most common congenital heart defects which may cause, in the presence of a significant left-to-right shunt, chronic volume overload of the heart and lead to the development of pulmonary arterial hypertension. Repair is indicated to avoid these complications and evolution to right-to-left shunting (Eisenmenger syndrome). Although the long-term results of surgical interventions in uncomplicated congenital heart defects were excellent, percutaneous techniques to repair the defects became a focus of attention. The persistent arterial duct, the secundum type atrial septal defect, and, more recently, the muscular and perimembranous ventricular septal defect are currently eligible for percutaneous closure. By avoiding a sternotomy or a thoracotomy, complaints of pain become exceptional and the duration of hospitalisation is shortened. Percutaneous closure is not only better tolerated than surgery, it may also imply favourable economical aspects.

Cardiac Catheterization↗
PubMed2006

The helical ventricular myocardial band of Torrent-Guasp: potential implications in congenital heart defects.

The new concepts of cardiac anatomy and physiology, based on the observations made by Francisco Torrent-Guasp's discovery of the helical ventricular myocardial band, can be useful in the context of the surgical strategies currently used to manage patients with congenital heart defects. The potential impact of the Torrent-Guasp's Heart on congenital heart defects have been analyzed in the following settings: ventriculo-arterial discordance (transposition of the great arteries), double (atrio-ventricular and ventriculo-arterial) discordance (congenitally corrected transposition of the great arteries), Ebstein's anomaly, pulmonary valve regurgitation after repair of tetralogy of Fallot, Ross operation, and complex intra-ventricular malformations. The functional interaction of right and left ventricles occurs not only through their arrangements in series but also thanks to the structural spiral features. Changes in size and function of either ventricle may influence the performance of the other ventricle. The variety and complexity of congenital heart defects make the recognition of the relationship between form and function a vital component, especially when compared to acquired disease. The new concepts of cardiac anatomy and function proposed by Francisco Torrent-Guasp, based on his observations, should stimulate further investigations of alternative surgical strategies by individuals involved with the management of patients with congenital heart defects.

Heart↗
PubMed2004

Phenotypic variability in Hey2 -/- mice and absence of HEY2 mutations in patients with congenital heart defects or Alagille syndrome.

The genetic alterations leading to congenital heart defects (CHD) are still poorly understood. We and others have recently shown that in mice loss of Hey2 results in a high incidence of fatal ventricular and atrial septal defects, combined with tricuspid stenosis or atresia in some cases. The phenotype has been postulated to resemble human tetralogy of Fallot. Our analysis of CD1 outbred mice suggests that phenotypic consequences of Hey2 loss can be quite variable and dependent on modifier genes as we detected only isolated VSDs with lower prevalence and a significantly reduced mortality rate in this strain. Since Hey2 is one of the few Notch target genes, it is also conceivable that HEY2 mutations may account for cases of Alagille syndrome (AGS: variable combinations of heart, skeleton, eye, and facial malformations and cholestasis), in which the typical mutations of the Notch ligand JAG1 cannot be found. To clarify the role of HEY2 in human CHD and AGS, we screened by direct sequencing 23 children with CHD and 38 patients diagnosed with AGS, which lack mutations in the JAG1 gene. We found two types of silent changes in the coding region: a CTT-->CTG transition in exon 3 and a CTG-->CTC polymorphism in exon 5. Furthermore, a heterozygous SNP in the splice donor site of exon 4 was detected that is unlikely to disrupt splicing. Although the high incidence and variability of human congenital heart defects implies a multifactorial genetic basis, our results suggest that mutation of HEY2 is not a major contributing factor.

Adolescent↗
PubMed1984

Experience with fibrin seal (Tisseel) in operations for congenital heart defects.

Tisseel (human fibrin seal) was used in 38 children with complex congenital heart defects (2.8% of all operations for congenital heart defects) between July, 1980, and August, 1983. Control of bleeding was excellent in 31 patients, good in 6 patients, and unsatisfactory in 1 patient. Best results were achieved when Tisseel was applied on collagen substrate. If bleeding was particularly difficult to control, a combination of Tisseel with pharmacological hypotension (sodium nitroprusside) was used. We recommend the use of Tisseel to preseal Dacron conduits and to control bleeding from multiple suture lines (conduits, arterial switch operations, complex reconstructions of the pulmonary arteries), near major coronary arteries, from Gore-Tex patches in high-pressure systems, and from the raw areas of the heart at reoperation.

Aprotinin↗
PubMed1986

Diagnostic value of pulsed Doppler echocardiography in combined heart defects.

26 patients with combined heart defects were examined by means of ultrasound methods (one-dimensional, two-dimensional and Doppler echocardiography). The results were compared with the results of clinical and roentgenological examinations. Taking into account literary data on high sensitivity and specificity of Doppler echocardiography, its informative value was assessed in cases when affection of two or more valves results in a balancing of haemodynamic changes. It was documented that pulsed Doppler EchoCG makes possible to assess the character and the direction of blood flow in different phases of the cardiac cycle in the heart cavities and the great vessels, and thereby provides additional information on the involvement of the valvular apparatus and on the state of haemodynamics. The sensitivity of this method is particularly high in the detection of regurgitant flow.

Adult↗