{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T10:26:48Z","timestamp":1791282408095,"version":"4.1.0"},"reference-count":194,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2008,8]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Double outlet right ventricle (DORV), a clinically significant congenital heart defect, occurs in 1\u20133% 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We queried the PubMed database using key words \u201cdouble outlet right ventricle\u201d and \u201cDORV\u201d 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      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\n                      <jats:italic>CFC1<\/jats:italic>\n                      and\n                      <jats:italic>CSX<\/jats:italic>\n                      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.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmg.2008.057984","type":"journal-article","created":{"date-parts":[[2008,5,4]],"date-time":"2008-05-04T07:54:05Z","timestamp":1209887645000},"page":"481-497","source":"Crossref","is-referenced-by-count":103,"title":["Double outlet right ventricle: aetiologies and associations"],"prefix":"10.1136","volume":"45","author":[{"given":"D","family":"Obler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A L","family":"Juraszek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L B","family":"Smoot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M R","family":"Natowicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2008,5,2]]},"reference":[{"key":"2025100511335656000_45.8.481.1","doi-asserted-by":"publisher","DOI":"10.1016\/S1058-9813(03)00084-5"},{"key":"2025100511335656000_45.8.481.2","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1093\/oxfordjournals.aje.a113979","article-title":"Congenital heart disease: prevalence at livebirth. 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