The causes and underlying developmental mechanisms of congenital cardiovascular malformations: A critical review

Bruyere, Harold J.; Kargas, Steve A.; Levy, Jay M.; Opitz, John M.; Bernstein, Jay

doi:10.1002/ajmg.1320280547

Cited by 12 publications

(8 citation statements)

References 92 publications

(40 reference statements)

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“…Morphological models of DORV have included abnormalities of cardiac septation, rotation, remodelling and haemodynamics 38 115 – 119. The current challenge is to couple what is valid from the mechanistic models with the insights of developmental genetics.…”

Section: Discussionmentioning

confidence: 99%

Double outlet right ventricle: aetiologies and associations

Obler

Juraszek

Smoot

et al. 2008

Journal of Medical Genetics

104

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Background: Double outlet right ventricle (DORV), a clinically significant congenital heart defect, occurs in 1-3% of individuals with congenital heart defects. In contrast to other major congenital heart defects, there are no systematic or comprehensive data regarding associations, aetiologies, and pathogenesis of DORV. We analysed reported cases in the medical literature to address these issues. Methods: We queried the PubMed database using key words ''double outlet right ventricle'' and ''DORV'' for case reports, epidemiologic analyses and animal studies with this cardiac anomaly. The anatomic subtype of DORV was classified according to criteria of Van Praagh. Results: Chromosomal abnormalities were present in 61 of the 149 cases of DORV. Trisomies 13 and 18, and del 22q11 were the most commonly associated cytogenetic lesions; different anatomic subtypes of DORV were noted in trisomies 13 and 18 versus del 22q11. DORV was reported in many uncommon or rare non-chromosomal syndromes. Mutations and non-synonymous sequence variants in the CFC1 and CSX genes were the most commonly reported monogenic loci associated with DORV in humans; numerous genes are reported in murine models of DORV. Animal studies implicate maternal diabetes and prenatal exposure to ethanol, retinoids, theophylline, and valproate in DORV teratogenesis. Conclusions: The large number of genes associated with DORV in both humans and animal models and the different anatomic subtypes seen in specific aetiologies indicate the likelihood of several distinct pathogenetic mechanisms for DORV, including impairment of neural crest derivative migration and impairment of normal cardiac situs and looping.

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Section: Discussionmentioning

confidence: 99%

Double outlet right ventricle: aetiologies and associations

Obler

Juraszek

Smoot

et al. 2008

Journal of Medical Genetics

104

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“…Congenital heart defects (CHD) usually have a multifactorial etiology with a low recurrence risk in sibs. Three percent only are thought to be due to single gene disorders, either as an isolated heart defect or as part of a syndrome (Nora & Nora 1978, Bruyere et al 1987, Nora & Nora 1988. We report the occurrence of CHD in a sister and brother who both also had hamartomas of the tongue and polydactyly.…”

mentioning

confidence: 85%

Congenital heart defects, hamartomas of the tongue and polysyndactyly in a sister and brother

Ørstavik¹,

Lindemann

Solberg

et al. 1992

Clinical Genetics

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We report a sister and brother with congenital heart defects, hamartomas of the tongue and polydactyly. Both had coarctation of the aorta, which was repaired in early infancy. In addition, the girl had atrioventricular canal. She died postoperatively at age 4 years. The boy had subaortic stenosis and died of pneumonia at age 2 years. Both children had normal psychomotor development. The parents were healthy and unrelated. The familial occurrence could be due to a previously unrecognized autosomal recessive syndrome or parental gonadal mosaicism for a dominant syndrome.

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“…A few agents and maternal conditions are confirmed as cardiac teratogens, e.g., maternal rubella infection, maternal diabetes, alcoholism, anticonvulsants and/or maternal epileptic disease, thalidomide, and retinoids (14). Only a small proportion of congenital heart defects is caused by known teratogenic agents (2%); the remaining, except those of chromosomal origin (8%), are still unrelated to specific exposures (15).…”

Section: Introductionmentioning

confidence: 99%

Maternal Obesity and Infant Heart Defects

2003

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CEDERGREN, MARIE I. AND BENGT A.J. KÄ LLÉ N. Maternal obesity and infant heart defects. Obes Res. 2003; 11:1065-1071. Objective: This study determined whether obese women have an increased risk of cardiovascular defects in their offspring compared with average weight women. Research Methods and Procedures:In a case-control study, prospectively collected information was obtained from Swedish medical health registers. The study included 6801 women who had infants with a cardiovascular defect and, as controls, all delivered women (N ϭ 812,457) during the study period (1992 to 2001). Infants with chromosomal anomalies or whose mothers had pre-existing diabetes were excluded. Obesity was defined as BMI Ͼ29 kg/m 2 , and morbid obesity was defined as BMI Ͼ35 kg/m 2 . Comparisons were made with average weight women (BMI ϭ 19.8 to 26 kg/m 2 ). Results: In the group of obese mothers, there was an increased risk for cardiovascular defects compared with the average weight mothers [adjusted odds ratio (OR) ϭ 1.18; 95% CI, 1.09 to 1.27], which was slightly more pronounced for the severe types of cardiovascular defects (adjusted OR ϭ 1.23; 95% CI, 1.05 to 1.44). With morbid obesity, the OR for cardiovascular defects was 1.40 (95% CI, 1.22 to 1.64), and for severe cardiovascular defects, the OR was 1.69 (95% CI, 1.27 to 2.26). There was an increased risk for all specific defects studied among the obese women, but only ventricular septal defects and atrial septal defects reached statistical significance. Discussion: In this sample, a positive association was found between maternal obesity in early pregnancy and congenital heart defects in the offspring. A suggested explanation is undetected type 2 diabetes in early pregnancy, but other explanations may exist.

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The causes and underlying developmental mechanisms of congenital cardiovascular malformations: A critical review

Cited by 12 publications

References 92 publications

Double outlet right ventricle: aetiologies and associations

Double outlet right ventricle: aetiologies and associations

Congenital heart defects, hamartomas of the tongue and polysyndactyly in a sister and brother

Maternal Obesity and Infant Heart Defects

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