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

共 73 条

[1] Joint hypermobility syndrome in childhood. A not so benign multisystem disorder? [J].

Adib, N ;

Davies, K ;

Grahame, R ;

Woo, P ;

Murray, KJ .

RHEUMATOLOGY, 2005, 44 (06) :744-750

[2] TGF-β signaling in cancer -: a double-edged sword [J].

Akhurst, RJ ;

Derynck, R .

TRENDS IN CELL BIOLOGY, 2001, 11 (11) :S44-S51

[3] Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes [J].

Arslan-Kirchner, Mine ;

Epplen, Joerg T. ;

Faivre, Laurence ;

Jondeau, Guillaume ;

Schmidtke, Joerg ;

De Paepe, Anne ;

Loeys, Bart .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (10) :1108-1111

[4] Aortic decision-making in the Loeys-Dietz syndrome: Aortic root aneurysm and a normal-caliber ascending aorta and aortic arch [J].

Augoustides, John G. T. ;

Plappert, Ted ;

Bavaria, Joseph E. .

JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY, 2009, 138 (02) :502-503

[5] Constipation in infants and children: Evaluation and treatment [J].

Baker, SS ;

Liptak, GS ;

Colletti, RB ;

Croffie, JM ;

Di Lorenzo, C ;

Ector, W ;

Nurko, S .

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 1999, 29 (05) :612-626

[6] Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations [J].

Ben Amor, I. Mouna ;

Edouard, Thomas ;

Glorieux, Francis H. ;

Chabot, Gilles ;

Tischkowitz, Marc ;

Roschger, Paul ;

Klaushofer, Klaus ;

Rauch, Frank .

JOURNAL OF BONE AND MINERAL RESEARCH, 2012, 27 (03) :713-718

[7] TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome [J].

Boileau, Catherine ;

Guo, Dong-Chuan ;

Hanna, Nadine ;

Regalado, Ellen S. ;

Detaint, Delphine ;

Gong, Limin ;

Varret, Mathilde ;

Prakash, Siddharth K. ;

Li, Alexander H. ;

d'Indy, Hyacintha ;

Braverman, Alan C. ;

Grandchamp, Bernard ;

Kwartler, Callie S. ;

Gouya, Laurent ;

Santos-Cortez, Regie Lyn P. ;

Abifadel, Marianne ;

Leal, Suzanne M. ;

Muti, Christine ;

Shendure, Jay ;

Gross, Marie-Sylvie ;

Rieder, Mark J. ;

Vahanian, Alec ;

Nickerson, Deborah A. ;

Michel, Jean Baptiste ;

Jondeau, Guillaume ;

Milewicz, Dianna M. .

NATURE GENETICS, 2012, 44 (08) :916-+

[8]

Casey K, 2012, ANN VASC SURG, V26

[9] Aortic Root Replacement with Re-Implantation Technique in an Infant with Loeys-Dietz Syndrome and a Bicuspid Aortic Valve [J].

Cleuziou, Julie ;

Eichinger, Walter B. ;

Schreiber, Christian ;

Lange, Ruediger .

PEDIATRIC CARDIOLOGY, 2010, 31 (01) :117-119

[10]

Committee to Review Dietary Reference Intakes for Vitamin D and Calcium Food Nutrition Board Institute of Medicine, 2010, DIET REF INT CALC VI

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