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Loeys Dietz Aortic Aneurysm Syndrome

MedGen UID:
324564
•Concept ID:
C1836635
•
Disease or Syndrome
Synonym: Loeys-Dietz Aortic Aneurysm Syndrome
 
OMIM®: 609192

Definition

Loeys-Dietz Syndrome with aortic aneurysm or dissection. [from MeSH]

Professional guidelines

PubMed

2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
Isselbacher EM, Preventza O, Hamilton Black J 3rd, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A Jr, Fanola CL, Girardi LN, Hicks CW, Hui DS, Schuyler Jones W, Kalahasti V, Kim KM, Milewicz DM, Oderich GS, Ogbechie L, Promes SB, Gyang Ross E, Schermerhorn ML, Singleton Times S, Tseng EE, Wang GJ, Woo YJ
Circulation 2022 Dec 13;146(24):e334-e482. Epub 2022 Nov 2 doi: 10.1161/CIR.0000000000001106. PMID: 36322642Free PMC Article
Loeys-Dietz syndrome: a primer for diagnosis and management.
MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC 3rd
Genet Med 2014 Aug;16(8):576-87. Epub 2014 Feb 27 doi: 10.1038/gim.2014.11. PMID: 24577266Free PMC Article
Marfan syndrome: clinical diagnosis and management.
Dean JC
Eur J Hum Genet 2007 Jul;15(7):724-33. Epub 2007 May 9 doi: 10.1038/sj.ejhg.5201851. PMID: 17487218

Recent clinical studies

Etiology

TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.
Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M
Hum Mutat 2006 Aug;27(8):770-7. doi: 10.1002/humu.20354. PMID: 16799921
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
Mátyás G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berger W, Steinmann B
Hum Mutat 2006 Aug;27(8):760-9. doi: 10.1002/humu.20353. PMID: 16791849

Diagnosis

TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.
Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M
Hum Mutat 2006 Aug;27(8):770-7. doi: 10.1002/humu.20354. PMID: 16799921
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
Mátyás G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berger W, Steinmann B
Hum Mutat 2006 Aug;27(8):760-9. doi: 10.1002/humu.20353. PMID: 16791849

Supplemental Content

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    Related information

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