Document Detail


Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease.
MedLine Citation:
PMID:  17257922     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Loeys-Dietz syndrome (LDS) is a recently described genetic aortic aneurysm syndrome resulting from mutations in receptors for the cytokine transforming growth factor-beta. Phenotypic features include a bifid uvula, hypertelorism, cleft palate, and generalized arterial tortuosity, but risk of thoracic aortic rupture and dissection is the principle focus of management and exceeds that of most known connective tissue disorders. Our surgical experience with LDS was reviewed to assess outcomes and develop guidelines for management of this aggressive disease. METHODS: We retrospectively reviewed medical records of all LDS patients from two institutions and obtained follow-up data from medical records and patient contacts. RESULTS: Clinical criteria and genotyping were used to identify 71 patients. Before surgical intervention, 6 patients (9%) died from aneurysm rupture or dissection, which occurred in several patients with aortic diameters of less than 4.5 cm and as early as 6 months of age. Thoracic aortic aneurysm surgery was performed in 14 children and 7 adults. Operations included valve-sparing root replacement (VSRR) in 13, Bentall procedure in 5, arch replacement in 2, and VSRR with arch replacement in 1. There were no deaths at the primary operation, although 3 patients died 2, 5, and 11 years after surgery from rupture of the descending thoracic (n = 2) or abdominal aorta (n = 1). CONCLUSIONS: LDS is an aggressive aortic aneurysm disease with a propensity toward rupture and dissection at a younger age and smaller aortic diameters than in other connective tissue disorders, particularly in the ascending aorta. Early recognition of the phenotype, prophylactic intervention, and meticulous surveillance of the distal aorta and vascular tree are warranted for optimal management.
Authors:
Jason A Williams; Bart L Loeys; Lois U Nwakanma; Harry C Dietz; Philip J Spevak; Nishant D Patel; Katrien François; Julie DeBacker; Vincent L Gott; Luca A Vricella; Duke E Cameron
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Annals of thoracic surgery     Volume:  83     ISSN:  1552-6259     ISO Abbreviation:  Ann. Thorac. Surg.     Publication Date:  2007 Feb 
Date Detail:
Created Date:  2007-01-29     Completed Date:  2007-03-06     Revised Date:  2007-12-03    
Medline Journal Info:
Nlm Unique ID:  15030100R     Medline TA:  Ann Thorac Surg     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  S757-63; discussion S785-90     Citation Subset:  AIM; IM    
Affiliation:
Division of Cardiac Surgery, The Johns Hopkins Medical Institutions, Baltimore, Maryland 21287, USA.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Aorta, Thoracic / surgery
Aortic Aneurysm, Abdominal / mortality
Aortic Aneurysm, Thoracic / genetics*,  mortality,  physiopathology,  surgery*
Aortic Rupture / mortality
Blood Vessel Prosthesis Implantation*
Child
Child, Preschool
Cohort Studies
Female
Genotype
Humans
Infant
Male
Mutation*
Phenotype
Retrospective Studies
Severity of Illness Index
Syndrome
Transforming Growth Factor beta / genetics*
Grant Support
ID/Acronym/Agency:
AR049698/AR/NIAMS NIH HHS; AR41135/AR/NIAMS NIH HHS
Chemical
Reg. No./Substance:
0/Transforming Growth Factor beta

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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