{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T08:23:18Z","timestamp":1781079798608,"version":"3.54.1"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2010,1,25]],"date-time":"2010-01-25T00:00:00Z","timestamp":1264377600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2010,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Loeys\u2013Dietz Syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with multisystem involvement, caused by heterozygous mutations of transforming growth factor \u03b2 receptor type 1 (<jats:italic>TGFBR1<\/jats:italic>) or type 2 (<jats:italic>TGFBR2<\/jats:italic>) genes. We report on a neonate with the disorder caused by a known <jats:italic>TGFBR2<\/jats:italic> mutation, who developed neonatal\u2010onset progressive dilation of the aortic valve and aneurysms of the aortic root and main pulmonary artery (PA) associated with a large left\u2010to\u2010right shunt via a ventricular septal defect (VSD) and an atrial septal defect. He also had skeletal features (flexion contractures of the fingers, talipes equinovarus, a cleft palate, and joint laxity), mild facial dysmorphisms, and developmental delay. The dilation and aneurysms progressed after PA banding at age 12 days; and the patient received an intracardiac repair of the defects and PA plasty at age 42 days, followed by no further progression of the dilation and the aneurysms. Neonates with generalized hypotonia, a cleft palate, inguinal herniae, musculoskeletal features such as camptodactyly and talipes equinovarus, and a cardiac murmur should be suspected to have LDS, and extensive cardiovascular evaluation and testing of <jats:italic>TGFBR1<\/jats:italic> and <jats:italic>TGFBR2<\/jats:italic> are recommended. LDS patients with cardiac defects that lead to a large left\u2010to\u2010right shunt and congestive heart failure such as VSD should be considered for intracardiac repair even in early infancy. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33263","type":"journal-article","created":{"date-parts":[[2010,1,25]],"date-time":"2010-01-25T19:35:16Z","timestamp":1264448116000},"page":"417-421","source":"Crossref","is-referenced-by-count":23,"title":["Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys\u2013Dietz syndrome type 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