OBJECTIVE: Loeys-Dietz syndrome is a newly described phenotype caused by heterozygous mutations in the genes encoding type I or II transforming growth factor-beta (TGF-beta) receptor. Characterized by a unique constellation of clinical and pathologic findings, Loeys-Dietz syndrome manifests with aggressive vascular pathology. Aneurysms may form at a young age and have a propensity for arterial dissection. In addition, aneurysms rupture at diameters smaller than those used to dictate surgical intervention for other syndromes and disorders. This article presents the spectrum of arterial pathology that may be identified on MDCT angiography in patients with Loeys-Dietz syndrome. CONCLUSION: For patients with Loeys-Dietz syndrome, early diagnosis and rapid intervention are instrumental in averting catastrophic events. Serial imaging assessment by radiologists is an important component in the management of these patients.
OBJECTIVE:Loeys-Dietz syndrome is a newly described phenotype caused by heterozygous mutations in the genes encoding type I or II transforming growth factor-beta (TGF-beta) receptor. Characterized by a unique constellation of clinical and pathologic findings, Loeys-Dietz syndrome manifests with aggressive vascular pathology. Aneurysms may form at a young age and have a propensity for arterial dissection. In addition, aneurysms rupture at diameters smaller than those used to dictate surgical intervention for other syndromes and disorders. This article presents the spectrum of arterial pathology that may be identified on MDCT angiography in patients with Loeys-Dietz syndrome. CONCLUSION: For patients with Loeys-Dietz syndrome, early diagnosis and rapid intervention are instrumental in averting catastrophic events. Serial imaging assessment by radiologists is an important component in the management of these patients.
Authors: Albert Busch; Caroline Grimm; Elena Hartmann; Valentina Paloschi; Ralph Kickuth; Mariette Lengquist; Christoph Otto; Per Eriksson; Richard Kellersmann; Udo Lorenz; Lars Maegdefessel Journal: Histochem Cell Biol Date: 2017-05-06 Impact factor: 4.304
Authors: Karl T Diedrich; John A Roberts; Richard H Schmidt; Lisa A Cannon Albright; Anji T Yetman; Dennis L Parker Journal: AMIA Annu Symp Proc Date: 2011-10-22
Authors: Angela E Lin; Craig T Basson; Elizabeth Goldmuntz; Pilar L Magoulas; Deborah A McDermott; Donna M McDonald-McGinn; Elspeth McPherson; Colleen A Morris; Jacqueline Noonan; Catherine Nowak; Mary Ella Pierpont; Reed E Pyeritz; Alan F Rope; Elaine Zackai; Barbara R Pober Journal: Genet Med Date: 2008-07 Impact factor: 8.822
Authors: L Spinardi; G Vornetti; S De Martino; R Golfieri; L Faccioli; M Pastore Trossello; C Graziano; E Mariucci; A Donti Journal: AJNR Am J Neuroradiol Date: 2020-08-20 Impact factor: 3.825