PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “CARDIOVASCULAR DEFECTS, CONGENITAL”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 199 records · Page 11Linked to original sources
PubMed2002

Infants with single ventricle: a population-based epidemiological study.

BACKGROUND: Single ventricle, a rare congenital cardiac defect, often occurs as part of a complex group of cardiovascular abnormalities. Little is known of its epidemiologic associations. METHODS: Using data from the Baltimore-Washington Infant Study [BWIS], (1981-89), a population based case-control study of cardiovascular malformations, infants with single ventricle were evaluated with respect to infant and family characteristics and maternal and paternal exposures. The cases were analyzed according to presence/absence of abnormal cardio-visceral situs. Controls were 3,572 infants without heart defects randomly selected from the regional cohort of live births. Odds ratios and 95% confidence intervals were used as measures of association. RESULTS: Single ventricle occurred in 1.25% of infants with congenital cardiovascular defects in the BWIS. Fifty-five infants had single ventricle. In 48 families (87.3%) the parents were interviewed. Thirty-three infants had normal situs and 15 had abnormal situs. Paternal alcohol consumption (OR = 2.0, 95% CI 1.1-3.9) and paternal cigarette smoking (OR = 2.4, 95% CI 1.1-5.1) were associated with all cases of single ventricle. These associations were even stronger in the subset of infants with abnormal situs. Maternal history of a previous induced abortion was also associated with infants born with abnormal situs (OR = 3.2, 95% CI 1.1-11.5). Paternal marijuana use was associated with cases of single ventricle in normal situs (OR = 2.2, 95% CI 1.0-5.2). CONCLUSIONS: Potential risk factors included paternal smoking and alcohol consumption, highlighting the need for future studies to consider environmental factors in the pathogenesis of this cardiac defect.

Adult↗
PubMed1999

The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome.

The establishment of the cardiovascular system represents an early, critical event essential for normal embryonic development, and defects in cardiovascular development are a frequent cause of both in utero and neonatal demise. Congenital cardio-vascular malformations, the most frequent birth defect, can occur as isolated events, but are frequently presented clinically within the context of a constellation of defects that involve multiple organs and that define a specific syndrome. In addition, defects can be a primary effect of gene mutations or result from secondary effects of altered cardiac physiology. Alagille syndrome (AGS) is an autosomal dominant disorder characterized by developmental abnormalities of the heart, liver, eye, skeleton and kidney. Congenital heart defects, the majority of which affect the right-sided or pulmonary circulation, contribute significantly to mortality in AGS patients. Recently, mutations in Jagged1 ( JAG1 ), a conserved gene of the Notch intercellular signaling pathway, have been found to cause AGS. In order to begin to delineate the role of JAG1 in normal heart development we have studied the expression pattern of JAG1 in both the murine and human embryonic heart and vascular system. Here, we demonstrate that JAG1 is expressed in the developing heart and multiple associated vascular structures in a pattern that correlates with the congenital cardiovascular defects observed in AGS. These data are consistent with an important role for JAG1 and Notch signaling in early mammalian cardiac development.

Alagille Syndrome↗
PubMed1997

[Congenital arterio-venous coronary fistula associated with patent ductus arteriousus: description of a clinical case and review of the literature].

Congenital coronary artery fistulae are rare anomalies (0.27-0.4% of all congenital heart defects) and consist of a communication between a coronary artery and a cardiac chamber, a great artery or the superior vena cava. The association of these congenital anomalies with other congenital cardiovascular defects is unusual. The purpose of this paper is to report a case of congenital coronary fistula between the anterior descending coronary artery and the pulmonary artery associated with patent ductus arteriosus and to review the literature on the subject.

Adult↗
PubMed2003

Functional attenuation of UFD1l, a 22q11.2 deletion syndrome candidate gene, leads to cardiac outflow septation defects in chicken embryos.

Microdeletion of chromosome 22q11.2 is commonly associated with congenital cardiovascular defects that involve development of cranial neural crest cells (NCC) that emigrate through the pharyngeal arches. UFD1l is one of several candidate genes for 22q11.2 deletion syndrome (22q11DS). UFD1l encodes a protein whose yeast counterpart is involved in a ubiquitin-dependent proteolytic degradation pathway; however, the role of UFD1L in NCC development remains unknown. Mouse embryos that lack Ufd1l die before organogenesis. We have therefore studied the function of Ufd1l in the chick system. Chick Ufd1l encoded a 307-amino acid protein that was highly conserved with mouse and human UFD1L. Chick Ufd1l was expressed in the developing neural tube, NCC, and mesenchyme of the head and pharyngeal arch structures, as well as in the conotruncal region (cardiac outflow tract), consistent with the clinical features of 22q11DS. To determine loss-of-function effects of chick Ufd1l in NCC, we infected cardiac NCC with a retrovirus expressing antisense Ufd1l transcripts in chick embryos before their migration. Morphologic analysis of infected embryos at a later developmental stage demonstrated that functional attenuation of chick Ufd1l in cardiac NCC resulted in an increased incidence of conotruncal septation defects. These data suggest that Ufd1l may play a role in cardiac NCC during conotruncal septation.

Adaptor Proteins, Vesicular Transport↗
PubMed1994

A second-generation study of 427 probands with congenital heart defects and their 837 children.

OBJECTIVES: This study attempted to answer the question, Do mothers with congenital cardiovascular defects have more affected children than fathers with cardiac anomalies? BACKGROUND: In the 1950s to 1960s, concern was expressed about the safety of pregnancy in women with cardiac anomalies and the possibility of inheritance. METHODS: In a prospective study over 25 years, 236 women with cardiac defects were followed through pregnancy, and their 418 offspring were examined during their 1st 3 years. A high incidence of congenital cardiac malformations was noted. Then, a retrospective study of 191 men from the same clinic group and their total family (419 children) was performed to compare the incidence of affected children between the maternal study and this subsequent paternal study. RESULTS: Of 837 live children of these 427 probands, 14.1% (118) had a congenital heart defect (13.4% in the maternal study, 14.8% in the paternal study). There was no correlation with the surgical status of the proband. Concordance was somewhat greater among the children of affected mothers compared with those of affected fathers. Included in these studies were 31 high risk probands, 10 with genetic syndromes and 21 who had an affected sibling. Respectively, 53% and 41% of their children had cardiac anomalies, with a concordance > 50%; three fourths of these children had moderate to severe anomalies. CONCLUSIONS: The incidence of congenital heart defects in the children was not statistically different between the maternal and paternal studies. With removal of the high risk probands from the total study group, the risk of one affected parent having a child with a cardiac anomaly was 10.7%. Of the entire 837 children, only 7.5% had moderate or severe defects.

Adult↗
PubMed2002

Use of antihistamine drugs in early pregnancy and delivery outcome.

OBJECTIVE: To study the impact of antihistamine use in early pregnancy on delivery outcome. METHODS: Using prospectively collected information on drug use in early pregnancy, delivery outcome was studied among 17 266 women with 17 776 deliveries and 18 197 infants. The analysis was performed according to the main reason for antihistamine use: nausea and vomiting in pregnancy and allergy. RESULTS: In the nausea and vomiting in pregnancy group, we found a significant increase in twin births and a significant reduction in preterm births, low birth weight and being small-for-gestational age among singletons. The perinatal death rate was reduced and the rate of congenital malformations was normal. A reduction was seen in the occurrence of congenital cardiovascular defects after the use of antihistamines. The odds ratio for specified cardiac defects, with the exception of ventricular and atrium septal defects, after the use of antihistamines for nausea and vomiting in pregnancy (0.54) was significantly lower than that for non-cardiovascular congenital malformations (0.95). No statistically significant effects on delivery outcome were seen after the use of antihistamine drugs for allergy. However, there was a non-significant tendency for a reduced risk for cardiovascular defects (odds ratio 0.71). CONCLUSIONS: The beneficial effects on delivery outcome observed are most probably related to the underlying nausea and vomiting in pregnancy. There is no clear teratogenic effect of the antihistamines studied.

Adult↗