Rationale and design of the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC).

Publication/Presentation Date

2-1-2009

Abstract

BACKGROUND: Although the management of thoracic aortic aneurysms (TAAs) has improved significantly, patients presenting with aortic dissections, rupture, or other acute complications of TAAs continue to have high rates of morbidity and mortality. Accumulating data have indicated that many TAAs are due to underlying gene mutations. A comprehensive approach to the study of TAAs resulting from genetic mutations is needed to translate this information into advances in treatment.

OBJECTIVE: The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) was established to provide a biospecimen inventory and bioinformatics infrastructure to enable research to advance the clinical management of genetically triggered TAAs and related complications.

METHODS: GenTAC is a longitudinal observational cohort study enrolling patients with conditions related to genetically induced TAAs from 5 regional clinical centers in the United States.

RESULTS: More than 700 subjects with associated clinical histories, physical examinations, imaging data, and biospecimens have been enrolled in the Registry to date. Enrollment is expected to continue until September 2010. Total enrollment of nearly 3,000 subjects is expected. No interim analysis has yet been undertaken.

CONCLUSIONS: GenTAC has been established to facilitate studies by GenTAC investigators and others that will advance multiple scientific frontiers in thoracic aortic disease. Genotypic, proteomic, clinical, and imaging data will be integrated systematically with outcomes data to determine the optimal clinical management of patients with genetically induced TAAs.

Volume

157

Issue

2

First Page

319

Last Page

326

ISSN

1097-6744

Disciplines

Medicine and Health Sciences

PubMedID

19185640

Department(s)

Department of Surgery

Document Type

Article

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