Blinc A, Maver A, Rudolf G, Tasič J, Pretnar Oblak J, Berden P, Peterlin B
Department of Vascular Diseases, University of Ljubljana Medical Centre, Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Slovenia.
Clinical Institute for Medical Genetics, Division of Gynecology, University of Ljubljana Medical Centre, Ljubljana, Slovenia.
Eur J Vasc Endovasc Surg. 2015 Dec;50(6):816-21. doi: 10.1016/j.ejvs.2015.08.003. Epub 2015 Sep 26.
OBJECTIVE/BACKGROUND: In rare genetic vascular syndromes the diagnosis may not be apparent from the phenotype, but might be important for proper management.
A previously healthy woman without dysmorphic features presented with pregnancy associated vascular dissections and aneurysms. Next generation clinical exome sequencing was performed.
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.
Clinical exome sequencing proved useful in diagnosing LDS type 3 where detailed vascular surveillance and timely intervention with a low threshold is recommended.
目的/背景：在罕见的遗传性血管综合征中，从表型可能无法明确诊断，但这对恰当的治疗管理可能很重要。
一名此前健康、无畸形特征的女性出现了与妊娠相关的血管夹层和动脉瘤。进行了下一代临床外显子组测序。
概述了自发性动脉夹层的鉴别诊断。临床外显子组测序在SMAD3进化保守区域检测到一个新的错义突变后，患者的诊断得以明确，证实为3型洛伊斯-迪茨综合征（LDS）。简要介绍了LDS的各种类型及其治疗管理。
临床外显子组测序在诊断3型LDS中被证明是有用的，对于该病建议进行详细的血管监测并及时进行低阈值干预。
