{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T17:21:03Z","timestamp":1791652863593,"version":"4.3.4"},"reference-count":23,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2023,6,6]],"date-time":"2023-06-06T00:00:00Z","timestamp":1686009600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Aneurysmal coronary artery disease (ACAD) has been reported rarely in patients with neurofibromatosis type 1 (NF1), mostly in adults. We report on a female newborn affected by NF1 with ACAD disclosed during investigation for an abnormal prenatal ultrasound along with a review of the previously reported cases. The proposita had multiple caf\u00e9\u2010au\u2010lait spots and had no cardiac symptoms. Echocardiography, and cardiac computed tomography angiography confirmed aneurysms on the left coronary artery, left anterior descending coronary artery, and of the sinus of Valsalva. Molecular analysis detected the pathogenic variant NM_001042492.3(NF1):c.3943C&gt;T (p.Gln1315*). Literature findings on ACAD in NF1 indicated that this mostly occurs in males, showing predilection for the development of aneurysms at the left anterior descending coronary artery, and manifesting predominantly as acute myocardial infarction, inclusively in teenagers, though it may be also asymptomatic as in our case. This report documents the first case of ACAD in a patient with NF1 diagnosed at birth, emphasizing that its early diagnosis is essential to prevent potential life\u2010threatening events attributable directly to coronary lesions.<\/jats:p>","DOI":"10.1002\/ajmg.a.63321","type":"journal-article","created":{"date-parts":[[2023,6,7]],"date-time":"2023-06-07T11:51:54Z","timestamp":1686138714000},"page":"2422-2427","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Aneurysms involving the coronary arteries in a neonate with neurofibromatosis 1"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4626-148X","authenticated-orcid":false,"given":"Jorge Rom\u00e1n","family":"Corona\u2010Rivera","sequence":"first","affiliation":[{"name":"Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division \u2018Dr. Juan I. Menchaca\u2019 Civil Hospital of Guadalajara  Guadalajara Jalisco Mexico"},{"name":"\u2018Dr. Enrique Corona Rivera\u2019 Institute of Human Genetics, Department of Molecular Biology and Genomics Health Sciences University Centre, University of Guadalajara  Guadalajara Jalisco Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ernestro","family":"Barrios\u2010Prieto","sequence":"additional","affiliation":[{"name":"Department of Maternal\u2010Fetal Medicine \u2018Dr. Juan I. Menchaca\u2019 Civil Hospital of Guadalajara  Guadalajara Jalisco Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berenice","family":"Rivera\u2010Ram\u00edrez","sequence":"additional","affiliation":[{"name":"Service of Cardiology, Pediatric Division \u2018Dr. Juan I. 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