Translational Surgery

CASE REPORT
Year
: 2019  |  Volume : 4  |  Issue : 2  |  Page : 27--31

A four-generation pedigree of vascular-type Ehlers–Danlos syndrome with spontaneous aortic dissections and multiple aneurysms: A case report and literature review


Xu Zhang1, Nuo Si2, Yuan Li1, Mei Liang1, Yue Hong Zheng1 
1 Department of Vascular Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China
2 Mckusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China

Correspondence Address:
Yue Hong Zheng
Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing
China

Ehlers-Danlos syndrome (EDS) is a rare, heritable connective tissue disorder disease . Among the subtypes of EDS, vascular type EDS (VEDS), is the most catastrophic one which can lead to aortic aneurysm, aortic dissection and even aortic rupture. We report a four-generation pedigree of VEDS. We give the propositus and her sister a DNA Test and made a literature review about the treatment of VEDS. The diagnosis turned out to be VEDS, which is caused by mutations in COL3A1(c.2221G>A, p.G741S), The patient received conservative treatment and her family got the medical instructions. Although EDS is rarely seen, it is necessary to be aware of this disease to make the right diagnosis and chose the appropriate treatment strategy, Doctors' unfamiliarity with this disease may compromise care.


How to cite this article:
Zhang X, Si N, Li Y, Liang M, Zheng YH. A four-generation pedigree of vascular-type Ehlers–Danlos syndrome with spontaneous aortic dissections and multiple aneurysms: A case report and literature review.Transl Surg 2019;4:27-31


How to cite this URL:
Zhang X, Si N, Li Y, Liang M, Zheng YH. A four-generation pedigree of vascular-type Ehlers–Danlos syndrome with spontaneous aortic dissections and multiple aneurysms: A case report and literature review. Transl Surg [serial online] 2019 [cited 2020 Feb 22 ];4:27-31
Available from: http://www.translsurg.com/article.asp?issn=2468-5585;year=2019;volume=4;issue=2;spage=27;epage=31;aulast=Zhang;type=0