The National Heart, Lung, and Blood Institute (NHLBI) and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) created the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) in 2006. The purpose of GenTAC is to establish a registry of patients with genetic conditions that may be related to thoracic aortic aneurysms and to collect medical information and biologic samples. The samples and information are available to researchers to help identify the best medical practices and to advance the clinical management of genetic thoracic aortic aneurysms and other cardiovascular complications. About 3,700 participants have been enrolled in the registry since 2006. The following sections describe GenTAC in more detail:
- Eligibility Criteria
- Research Protocol
- Data Collection Forms
- Sponsors and Collaborators
GenTAC would like to extend our sincerest thanks to all participants who enrolled in the Registry over the years. Your interest in the research and willingness to participate has helped make this important study successful. Your contributions will continue to benefit people with genetically triggered thoracic aortic aneurysms.
We also wish to extend our appreciation to everyone who has worked on this project since its inception in 2006. Many people have made significant contributions to the ongoing data collection, research, and analyses over the years. Your work has helped to make the Registry a valuable source of information about individuals with genetically triggered thoracic aortic aneurysms.
The table below describes the eligibility requirements for enrollment.
|Condition||Age Range||Thoracic Aortic Enlargement Required||Family History Required|
|1||Marfan syndrome||All Ages||
|2||Turner syndrome||All Ages||No||No|
|3||Ehlers-Danlos syndrome (EDS)||All Ages||No for vascular EDS. Yes for other types.||No|
|4||Loeys-Dietz syndrome||All Ages||No||No|
|5||FBN1, TGFBR1, TGFBR2, ACTA2 or MYH11 genetic mutation||All Ages||No||No|
|6||Bicuspid aortic valve without known family history of thoracic aortic enlargement||All Ages||Yes||No|
|7||Bicuspid aortic valve with family history of thoracic aortic enlargement||All Ages||No||No|
|8||Bicuspid aortic valve with coarctation||All Ages||No||No|
|9||Familial thoracic aortic aneurysm and dissections||All Ages||Yes||Yes|
|10||Shprintzen-Goldberg syndrome||All Ages||No||No|
|11||Other aneurysms and dissections of the thoracic aorta not due to trauma||50 years or younger||Yes||No|
|12||Other congenital heart disease (e.g., Tetralogy of Fallot, coarctation)||All Ages||Yes||
Learn more about the background and design of GenTAC from the Research Protocol.
Data Collection Forms
Sponsors and Collaborators
Find out more about the National Heart, Lung, and Blood Institute
Find out more about the National Marfan Foundation
The Turner Syndrome Society of the United States is a national nonprofit 501 (c) (3) organization that provides health-related resources to patients, families, and physicians for the diagnosis and treatment of Turner syndrome. There are chapters and support groups located throughout the country. TSSUS holds an annual conference with speakers from a variety of professions including medical experts, social workers, educators, and psychologists. These meetings provide an opportunity to exchange information on many topics of interest to TS patients of all ages.
Find out more about the Turner Syndrome Society of the United States
Established in 1985 by Founder Nancy Hanna Rogowski (1957–1995), the Ehlers-Danlos National Foundation is a 501 (c) (3) Nonprofit Organization with more than 2,000 members and local groups across the United States. Its local groups are run by volunteers and their families; they are the life blood of the organization and make a huge difference to those affected by Ehlers-Danlos syndrome (EDS).
Find out more about the Ehlers-Danlos National Foundation
Contact the GenTAC team for questions about GenTAC:
Contact BioLINCC if you would like to request GenTAC data, images or biospecimens.