title: Aortic and Pulmonary Root Aneurysms in a Child With Loeys-Dietz Syndrome.
abstract: We report the case of an 11-year-old boy with Loeys-Dietz syndrome, with both aortic and pulmonary aneurysms requiring cardiac operation because of progressive valve incompetence resulting from loss of coaptation of the cusps. Arterial medial changes, consisting of disarray of elastic fibers and increased collagen deposition, were observed in surgical specimens from both the aorta and the pulmonary artery of our patient, and the strong pSmad2 nuclear staining of smooth muscle cells of both aortic and pulmonary tunica media are the best evidence of transforming growth factor-β pathway activation in Loeys-Dietz syndrome.
authors.affiliation: Cardiovascular Pathology Unit, Department of Cardiac, Thoracic, and Vascular Surgery, University of Padua, Padua, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Rizzo
authors.affiliation: Pediatric and Congenital Cardiac Surgery Unit, Department of Cardiac, Thoracic, and Vascular Surgery, University of Padua, Padua, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Stellin
authors.affiliation: Paediatrics, Department of Women's and Children's Health, University of Padua, Padua, Italy.
authors.forename: Ornella
authors.initials: O
authors.lastname: Milanesi
authors.affiliation: Pediatric and Congenital Cardiac Surgery Unit, Department of Cardiac, Thoracic, and Vascular Surgery, University of Padua, Padua, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Padalino
authors.affiliation: Division of Cardiac Surgery, The Johns Hopkins Hospital, Baltimore, Maryland.
authors.forename: Luca A
authors.initials: LA
authors.lastname: Vricella
authors.affiliation: Cardiovascular Pathology Unit, Department of Cardiac, Thoracic, and Vascular Surgery, University of Padua, Padua, Italy.
authors.forename: Gaetano
authors.initials: G
authors.lastname: Thiene
authors.affiliation: Division of Cardiac Surgery, The Johns Hopkins Hospital, Baltimore, Maryland.
authors.forename: Duke E
authors.initials: DE
authors.lastname: Cameron
authors.affiliation: Cardiovascular Pathology Unit, Department of Cardiac, Thoracic, and Vascular Surgery, University of Padua, Padua, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Basso
authors.affiliation: Pediatric and Congenital Cardiac Surgery Unit, Department of Cardiac, Thoracic, and Vascular Surgery, University of Padua, Padua, Italy. Electronic address: vladimiro.vida@unipd.it.
authors.forename: Vladimiro L
authors.initials: VL
authors.lastname: Vida
mesh_terms: D000784:Aortic Dissection / Q000000981:diagnostic imaging / Q000601:surgery*; D017545:Aortic Aneurysm, Thoracic / Q000000981:diagnostic imaging / Q000209:etiology / Q000601:surgery*; D001027:Aortography / Q000379:methods; D001707:Biopsy, Needle; D006348:Cardiac Surgical Procedures / Q000379:methods*; D002648:Child; D005500:Follow-Up Studies; D006801:Humans; D021621:Imaging, Three-Dimensional; D007150:Immunohistochemistry; D055947:Loeys-Dietz Syndrome / Q000150:complications* / Q000175:diagnosis; D008297:Male; D011651:Pulmonary Artery / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery*; D014057:Tomography, X-Ray Computed / Q000379:methods; D016896:Treatment Outcome; D017540:Tunica Media / Q000473:pathology; D014656:Vascular Surgical Procedures / Q000379:methods