| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
|
|
|
|||||||
|
|||||||||
J Thorac Cardiovasc Surg 2004;127:600-602
© 2004 The American Association for Thoracic Surgery
Brief communication |
a First Department of Surgery, Gifu University School of Medicine, Gifu, Japan
Received for publication September 28, 2003; accepted for publication October 2, 2003.
* Address for reprints: Hisato Takagi, MD, PhD, First Department of Surgery, Gifu University School of Medicine, 40 Tsukasa, Gifu 500-8705, Japan
h-takagi{at}cc.gifu-u.ac.jp
Mutations in the gene for fibrillin-1 (FBN1), which cause Marfan's syndrome, have been found not only in Marfan's syndrome but also in a range of connective tissue disorders collectively termed "fibrillinopathies," such as isolated ascending aortic aneurysm and dissection,1,2 isolated skeletal features, predominant skeletal manifestations without aortic dilatation, isolated ectopia lentis, and other variants. On the other hand, Simkin3 has hypothesized that the defective fibrillin of Marfan microfibrils and the inflammation-targeted fibrillin of ankylosing spondylitis may each lead to comparable structural phenotypes of failure. Two cases of coexistent ankylosing spondylitis and Marfan's syndrome without aortic dissection have been reported in the literature.4,5 To our knowledge, however, there have been no cases of aortic dissection in ankylosing spondylitis. Here we describe the first case of Stanford type A (DeBakey type I) acute aortic dissection without Marfan's syndrome in human leukocyte antigen (HLA)-B27–negative ankylosing spondylitis, and the relationship of these 2 disorders is discussed.
Clinical summary
A 65-year-old man with severe chest and back pains was referred to our department. He presented with no traits of Marfan's syndrome in physical examination. Computed tomography scanning disclosed Stanford type A (DeBakey type I) aortic dissection (Figure 1). Urgent replacement of the ascending aorta and the total aortic arch was successfully performed with the use of selective cerebral perfusion. The pathological examination of the aortic wall revealed neither aortitis nor cystic medial necrosis. Postoperatively, abdominal x-ray photography disclosed the characteristic deformation of the lumbar vertebrae, so-called "bamboo spine" (Figure 2). The patient was HLA-B27–negative but met the European Spondylarthropathy Study Group preliminary criteria for the classification of spondylarthropathy proposed by Dougados and associates6: inflammatory spinal pain, alternate buttock pain, and sacroiliitis. His postoperative course was uneventful, and he is doing well now 2 years and 4 months after the operation.
|
|
According to Francke and associates,1 a G-to-A transition at nucleotide 3379, predicting a Gly1127Ser substitution, has been revealed by single-strand conformation analysis of the entire fibrillin-1 (FBN1) cDNA of 10 kindred individuals in whom ascending aortic disease, ranging from mild aortic root enlargement to aneurysm and/or dissection, has been identified, and none of whom had classical Marfan's syndrome. Pulse-chase studies revealed normal fibrillin synthesis but reduced fibrillin deposition into the extracellular matrix in cultured fibroblasts from a Gly1127Ser carrier. Milewicz and collaborators2 have also identified a missense mutation, D1155N in exon 27, in a 44-year-old man who did not have dolichostenomelia, arachnodactyly, myopia, or lens dislocation and who presented with 6- to 7-cm dilatation of his aortic root with an acute dissection of his ascending thoracic aorta. The mutation decreased the amount of fibrillin-1 deposited into the pericellular matrix of dermal fibroblasts from the affected individual. Results of these studies have supported the hypothesis that FBN1 mutations cause thoracic aortic aneurysm or dissection in patients who do not have Marfan's syndrome. On the other hand, Simkin3 reported that most sites of inflammation in patients with ankylosing spondylitis involve fibrocartilage, and that fibrillin-1, a major component of the microfibrils in fibrocartilage, may be the target of this response in the aorta and the eye as well as in bones and joints. Thus, it has been hypothesized that spondylitic inflammation may include release and activation of latent transforming growth factor-ß from binding sites on fibrillin-1.
Fietta and Manganelli4 reported a 46-year-old man with coexistent ankylosing spondylitis and Marfan's syndrome without aortic dissection. The patient had the typical traits of Marfan's syndrome, along with the clinical and radiological findings of ankylosing spondylitis in which HLA typing was positive for the B27 antigen. Because of the rarity of such coexistence, at first they thought that it was accidental. The hypothesis suggested by Simkin,3 however, led them to reconsider this condition: both a genetically determined and an inflammation-derived fibrillin-1 defect might coexist in their patient.7
Although there have been 2 case reports of coexistent ankylosing spondylitis and Marfan's syndrome without aortic dissection in the literature,4,5 no cases of aortic dissection in ankylosing spondylitis have been found. In the present case, there is no evidence that ankylosing spondylitis and aortic dissection without Marfan's syndrome are not coincidentally but causally related, because neither FBN1 nor fibrillin-1 was examined. The extremely rare coexistence of these 2 disorders, however, may support the hypothesis proposed by Simkin.3
References
This article has been cited by other articles:
|
|
 |
|
  A. Juan and I. Ros Spondyloarthropathies and aortic dissection J. Thorac. Cardiovasc. Surg., May 1, 2006; 131(5): 1209 - 1210. [Full Text] [PDF]
|
|
|
|
|
|
H. Takagi, S. Sekino, and T. Umemoto Reply to the Editor J. Thorac. Cardiovasc. Surg., May 1, 2006; 131(5): 1210 - 1210. [Full Text] [PDF]
|
|
|
|
|
|
H. Takagi, S. Sekino, and T. Umemoto Aortic dissection and ankylosing spondylitis in hypocystinemia J. Thorac. Cardiovasc. Surg., May 1, 2005; 129(5): 1198 - 1198. [Full Text] [PDF]
|
|
|
|
 |
|
 E. M. Isselbacher Thoracic and Abdominal Aortic Aneurysms Circulation, February 15, 2005; 111(6): 816 - 828. [Full Text] [PDF]
|
|
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
| ANN THORAC SURG | ASIAN CARDIOVASC THORAC ANN | EUR J CARDIOTHORAC SURG |
| J THORAC CARDIOVASC SURG | ICVTS | ALL CTSNet JOURNALS |
