CT angiographic evaluation of genetic vascular disease: role in detection, staging, and management of complex vascular pathologic conditions.

OBJECTIVE Arterial dissection and aneurysm rupture are significant sources of morbidity and mortality in patients with connective tissue diseases. This article provides a detailed analysis of cardiovascular involvement in Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome. CONCLUSION Although these syndromes share some overlapping features, they have discriminating clinical and imaging features, and knowledge of these features enables the radiologist to aid the referring clinician in making the correct diagnosis.

[1]  L. Chu,et al.  Vascular complications of Ehlers-Danlos syndrome: CT findings. , 2012, AJR. American journal of roentgenology.

[2]  J. Rosenberg,et al.  Gastrointestinal Surgery and Related Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review , 2012, Digestive Surgery.

[3]  B. Loeys,et al.  Marfan syndrome: from gene to therapy , 2012, Current opinion in pediatrics.

[4]  B. Loeys,et al.  Educational paper , 2012, European Journal of Pediatrics.

[5]  E. Fishman,et al.  Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm , 2012, Nature Genetics.

[6]  M. Halushka.  Single gene disorders of the aortic wall. , 2012, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

[7]  A. De Paepe,et al.  The Ehlers–Danlos syndrome, a disorder with many faces , 2012, Clinical genetics.

[8]  E. Goetghebeur,et al.  The Ghent Marfan Trial--a randomized, double-blind placebo controlled trial with losartan in Marfan patients treated with β-blockers. , 2012, International journal of cardiology.

[9]  K. Charlton‐Ouw,et al.  Endovascular repair of an internal mammary artery aneurysm in a patient with Loeys-Dietz syndrome. , 2012, Journal of vascular surgery.

[10]  T. Huber,et al.  Endovascular treatment of acute and chronic aortic pathology in patients with Marfan syndrome. , 2010, Journal of vascular surgery.

[11]  M. Levitt,et al.  Endovascular treatment of intracranial aneurysms in Loeys–Dietz syndrome , 2011, Journal of NeuroInterventional Surgery.

[12]  M. Norton,et al.  Management of Pregnancy in Women With Genetic Disorders, Part 1: Disorders of the Connective Tissue, Muscle, Vascular, and Skeletal Systems , 2011, Obstetrical & gynecological survey.

[13]  H. Dietz,et al.  Valve-sparing aortic root replacement in Loeys-Dietz syndrome. , 2011, The Annals of thoracic surgery.

[14]  A. Malhotra,et al.  Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings , 2011, Pediatric Radiology.

[15]  J. Mills,et al.  Endovascular treatment of ruptured axillary and large internal mammary artery aneurysms in a patient with Marfan syndrome. , 2011, Journal of vascular surgery.

[16]  M. Halushka,et al.  Causes and histopathology of ascending aortic disease in children and young adults. , 2011, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

[17]  H. Dietz,et al.  Musculoskeletal findings of Loeys-Dietz syndrome. , 2010, The Journal of bone and joint surgery. American volume.

[18]  Laurence Faivre,et al.  The revised Ghent nosology for the Marfan syndrome , 2010, Journal of Medical Genetics.

[19]  S. Laurent,et al.  Effect of Celiprolol on Prevention of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome , 2009 .

[20]  J. Black,et al.  Contemporary management of vascular complications associated with Ehlers-Danlos syndrome. , 2009, Journal of vascular surgery.

[21]  D. Yousem,et al.  Neuroradiologic Manifestations of Loeys-Dietz Syndrome Type 1 , 2009, American Journal of Neuroradiology.

[22]  Daniel S Berman,et al.  Assessment of the thoracic aorta by multidetector computed tomography: age- and sex-specific reference values in adults without evident cardiovascular disease. , 2008, Journal of cardiovascular computed tomography.

[23]  Benjamin S. Brooke,et al.  Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. , 2008, The New England journal of medicine.

[24]  M. Schepens.  Re: “Thoracic Aortic Endografting in Patients with Connective Tissue Disease” , 2008, Journal of endovascular therapy : an official journal of the International Society of Endovascular Specialists.

[25]  R. S. Mitchell,et al.  Expert consensus document on the treatment of descending thoracic aortic disease using endovascular stent-grafts. , 2008, The Annals of thoracic surgery.

[26]  S. Colan,et al.  Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome. , 2007, American heart journal.

[27]  T. Vrtiska,et al.  Vascular Ehlers-Danlos syndrome: imaging findings. , 2007, AJR. American journal of roentgenology.

[28]  Elliot K Fishman,et al.  Loeys-Dietz syndrome: MDCT angiography findings. , 2007, AJR. American journal of roentgenology.

[29]  J. Stauffer,et al.  Aneurysm of the renal artery in a patient with the Marfan syndrome, treated by stenting and coils implantation , 2007, Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions.

[30]  V. Gott,et al.  Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. , 2007, The Annals of thoracic surgery.

[31]  George H. Thomas,et al.  Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor , 2006 .

[32]  Marc K. Halushka,et al.  Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome , 2006, Science.

[33]  D. Germain.  The vascular ehlers-danlos syndrome , 1999, Current treatment options in cardiovascular medicine.

[34]  Wolfram Kress,et al.  A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 , 2005, Nature Genetics.

[35]  N. Lindor,et al.  From the Southern Association for Vascular Surgery The spectrum , management and clinical outcome of Ehlers-Danlos syndrome type IV : A 30-year experience , 2005 .

[36]  P. Byers,et al.  Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. , 2000, The New England journal of medicine.

[37]  P. Beighton,et al.  Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). , 1998, American journal of medical genetics.

[38]  G. Lichtenstein,et al.  GI manifestations of Ehlers-Danlos syndrome. , 1996, The American journal of gastroenterology.

[39]  R E Pyeritz,et al.  Revised diagnostic criteria for the Marfan syndrome. , 1996, American journal of medical genetics.

[40]  E. Murphy,et al.  Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome. , 1994, The New England journal of medicine.

[41]  Ada Hamosh,et al.  Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene , 1991, Nature.

[42]  J. Miles,et al.  Spontaneous arterial perforation: the Ehlers-Danlos specter. , 1987, Journal of vascular surgery.

[43]  A. Gomes,et al.  Perforation of the superior vena cava: a complication of digital angiography in Ehlers-Danlos syndrome. , 1984, AJR. American journal of roentgenology.

[44]  V. McKusick,et al.  Patients with Ehlers-Danlos syndrome type IV lack type III collagen. , 1975, Proceedings of the National Academy of Sciences of the United States of America.