ArticleJournal of perinatology : official journal of the California Perinatal Association2018
In-utero idiopathic ductal constriction: a prenatal manifestation of Alagille and Williams syndrome arteriopathy.
Article in Journal of perinatology : official journal of the California Perinatal Association, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 11 citations in OpenAlex.
- Prenatal phenotype features and genetic etiology of the Williams-Beuren syndrome and literature review.Frontiers in pediatrics · 2023Article
- Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis.Molecular cytogenetics · 2022Article
- Pulmonary artery pathologies in Alagille syndrome: a meta-analysis.Postepy w kardiologii interwencyjnej = Advances in interventional cardiology · 2022Review
- Foetal ductus arteriosus constriction unrelated to non-steroidal anti-Inflammatory drugs: a case report and literature review.Annals of medicine · 2021Review
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveWilliams and Alagille syndromes are genetic disorders associated with pathologic arterial narrowing. We hypothesized that fetal idiopathic ductus arteriosus (DA) constriction may represent a prenatal manifestation of the arteriopathy associated with these syndromes.
methodsMulti-institutional case series review of the pre- and postnatal medical records, echocardiograms, and genetic test results of fetuses presenting with idiopathic DA constriction.
resultsWe identified four cases of idiopathic fetal DA constriction at 21-36 weeks of gestation. All had right ventricular hypertension, dilation, hypertrophy, and dysfunction and either DA constriction or absence. All demonstrated progressive peripheral pulmonary artery stenosis after birth. Three met clinical diagnostic criteria for Alagille syndrome; two tested had confirmatory JAG1 mutations. One also developed supravalvar aortic stenosis after birth and was positive for 7q11.23 deletion (Williams syndrome).
conclusionThis is the first case series to suggest that idiopathic fetal DA constriction may be a prenatal manifestation of genetic arteriopathy.
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