期刊
EUROPEAN JOURNAL OF VASCULAR AND ENDOVASCULAR SURGERY
卷 50, 期 6, 页码 816-821出版社
W B SAUNDERS CO LTD
DOI: 10.1016/j.ejvs.2015.08.003
关键词
Aneurysm; Clinical exome sequencing; Loeys-Dietz syndrome; Pregnancy; Spontaneous arterial dissection
资金
- Slovenian Research Agency Program [P3-0308]
Objective/Background: In rare genetic vascular syndromes the diagnosis may not be apparent from the phenotype, but might be important for proper management. Methods: A previously healthy woman without dysmorphic features presented with pregnancy associated vascular dissections and aneurysms. Next generation clinical exome sequencing was performed. Results: The differential diagnosis of spontaneous arterial dissection is outlined. The patient's diagnosis became. evident after clinical exome sequencing detected a novel missense mutation in the evolutionary conserved region of SMAD3, confirming the diagnosis of Loeys-Dietz syndrome (LDS) type 3. A brief overview of the various types of LDS and their management is presented. Conclusion: Clinical exome sequencing proved useful in diagnosing LDS type 3 where detailed vascular surveillance and timely intervention with a low threshold is recommended. (C) 2015 European Society for Vascular Surgery. Published by Elsevier Ltd. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据