Rationale and design of the national registry of genetically triggered thoracic aortic aneurysms and cardiovascular conditions (GenTAC)
KA Eagle, GenTAC Consortium - American heart journal, 2009 - Elsevier
KA Eagle, GenTAC Consortium
American heart journal, 2009•ElsevierBACKGROUND: 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 …
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 …
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.
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