Loeys-Dietz syndrome: a primer for diagnosis and management

被引：364

作者：

MacCarrick, Gretchen ^{[1
]}

Black, James H., III ^{[2
]}

Bowdin, Sarah ^{[3
]}

El-Hamamsy, Ismail ^{[4
]}

Frischmeyer-Guerrerio, Pamela A. ^{[5
]}

Guerrerio, Anthony L. ^{[5
]}

Sponseller, Paul D. ^{[6
]}

Loeys, Bart ^{[7
]}

Dietz, Harry C., III ^{[1
,8
]}

机构：

[1] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USA

[2] Johns Hopkins Univ Hosp, Div Vasc Surg & Endovasc Therapy, Baltimore, MD 21287 USA

[3] Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

[4] Univ Montreal, Dept Cardiac Surg, Montreal Heart Inst, Montreal, PQ, Canada

[5] Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA

[6] Johns Hopkins Univ, Dept Orthopaed Surg, Baltimore, MD USA

[7] Univ Antwerp, Ctr Med Genet, B-2020 Antwerp, Belgium

[8] Howard Hughes Inst, Chevy Chase, MD USA

来源：

GENETICS IN MEDICINE | 2014年 / 16卷 / 08期

关键词：

THORACIC AORTIC-ANEURYSMS; EARLY SURGICAL EXPERIENCE; BETA RECEPTOR MUTATIONS; ENDOVASCULAR TREATMENT; ARTERY ANEURYSMS; ASCENDING AORTA; MARFAN-SYNDROME; PATIENT; REPLACEMENT; DISSECTION;

D O I：

10.1038/gim.2014.11

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Loeys-Dietz syndrome is a connective tissue disorder predisposing individuals to aortic and arterial aneurysms. Presenting with a; wide spectrum of multisystem involvement, medical management for some individuals is complex. This review of literature and expert opinion aims to provide medical guidelines for care of individuals with Loeys-Dietz syndrome.

引用

页码：576 / 587

页数：12

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