Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes

Journal of Vascular Surgery

Volumn 60, Issue 1, 2014, Pages 160-169

  Shalhub, Sherene ^a   Black, James H ^b   Cecchi, Alana C ^c   Xu, Zhi ^d   Griswold, Ben F ^d   Safi, Hazim J ^e   Milewicz, Dianna M ^c   McDonnell, Nazli B ^d  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS HOSPITAL   (United States)

^c UNIVERSITY OF TEXAS   (United States)

^d NATIONAL INSTITUTE ON AGING   (United States)

^e UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 3; COLLAGEN TYPE 3A1; UNCLASSIFIED DRUG;

ABDOMINAL AORTA ANEURYSM; AORTA DISEASE; ARTERY DISEASE; CONFERENCE PAPER; CONTROLLED STUDY; DEMOGRAPHY; EHLERS DANLOS SYNDROME; EMERGENCY SURGERY; FAMILY HISTORY; FEMALE; GENE MUTATION; HAPLOINSUFFICIENCY; HISTORY; HUMAN; HUMAN TISSUE; INFORMATION PROCESSING; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; MORTALITY; PHENOTYPE; POSTOPERATIVE COMPLICATION; PRIORITY JOURNAL; TREATMENT OUTCOME; VASCULAR DISEASE;

ADOLESCENT; ADULT; ANEURYSM, DISSECTING; ANEURYSM, RUPTURED; ANGIOPLASTY; AORTIC ANEURYSM; CELIAC ARTERY; CHILD; COLLAGEN TYPE III; EHLERS-DANLOS SYNDROME; EMERGENCIES; FEMALE; GENETIC TESTING; GENOTYPE; HEPATIC ARTERY; HUMANS; ILIAC ANEURYSM; MALE; MESENTERIC ARTERY, SUPERIOR; MIDDLE AGED; MUTATION; PHENOTYPE; RENAL ARTERY; SPLENIC ARTERY; TREATMENT OUTCOME; VISCERA; YOUNG ADULT;

EID: 84903318406     PISSN: 07415214     EISSN: 10976809     Source Type: Journal    
DOI: 10.1016/j.jvs.2014.01.070     Document Type: Conference Paper

References (14)

1. F.M. Pope, P. Narcisi, A.C. Nicholls, D. Germaine, G. Pals, and A.J. Richards COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture Br J Dermatol 135 1996 163 181
2. M.G. Pepin, and P.H. Byers Ehlers-Danlos syndrome type IV R.A. Pagon, M.P. Adam, T.D. Bird, C.R. Dolan, C. Fong, R. Smith, GeneReviews [Internet] 1993-2014 University of Washington, Seattle Seattle
3. M. Pepin, U. Schwarze, A. Superti-Furga, and P.H. Byers Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type N Engl J Med 342 2000 673 680
4. L.T. Smith, U. Schwarze, J. Goldstein, and P.H. Byers Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis J Invest Dermatol 108 1997 241 247
5. U. Schwarze, J.A. Goldstein, and P.H. Byers Splicing defects in the COL3A1 gene: marked preference for 5' (donor) splice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV Am J Hum Genet 61 1997 1276 1286
6. R.E. Pyeritz Ehlers-Danlos syndrome N Engl J Med 342 2000 730 732
7. D.F. Leistritz, M.G. Pepin, U. Schwarze, and P.H. Byers COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy Genet Med 13 2011 717 722
8. G.S. Oderich, J.M. Panneton, T.C. Bower, N.M. Lindor, K.J. Cherry, and A.A. Noel et al. The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience J Vasc Surg 42 2005 98 106
9. B.L. Loeys, J. Chen, E.R. Neptune, D.P. Judge, M. Podowski, and T. Holm et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 Nat Genet 37 2005 275 281
10. B.S. Brooke, G. Arnaoutakis, N.B. McDonnell, and J.H. Black III Contemporary management of vascular complications associated with Ehlers-Danlos syndrome J Vasc Surg 51 2010 131 138
11. Y.W. Lum, B.S. Brooke, and J.H. Black III Contemporary management of vascular Ehlers-Danlos syndrome Curr Opin Cardiol 26 2011 494 501
12. K.T. Ong, J. Perdu, B.J. De, E. Bozec, P. Collignon, and J. Emmerich et al. Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial Lancet 376 2010 1476 1484
13. N. Purohit, D. Marsland, N. Roberts, and E. Townsend Haemo-pneumothorax and haemoptysis in a patient with suspected Ehlers-Danlos syndrome Interact Cardiovasc Thorac Surg 9 2009 130 131
14. B.S. Brooke Celiprolol therapy for vascular Ehlers-Danlos syndrome Lancet 376 2010 1443 1444