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National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) - About

 

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:

Acknowledgement

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.

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Eligibility Criteria

The table below describes the eligibility requirements for enrollment.

  Condition Age Range Thoracic Aortic Enlargement Required Family History Required
1 Marfan syndrome All Ages

No

No
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

No

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Research Protocol

Learn more about the background and design of GenTAC from the Research Protocol.

GenTAC Protocol PDF (1049KB)

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Data Collection Forms

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Sponsors and Collaborators

Sponsors:

a graphic preview of the NHLBI standard signature logo.
 The National Heart, Lung, and Blood Institute provides global leadership for a research, training, and education program to promote the prevention and treatment of heart, lung, and blood diseases and enhance the health of all individuals so that they can live longer and more fulfilling lives.
Find out more about the National Heart, Lung, and Blood Institute

  

NIAMS Logo
The mission of the National Institute of Arthritis and Musculoskeletal and Skin Diseases is to support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases; the training of basic and clinical scientists to carry out this research; and the dissemination of information on research progress in these diseases. Find out more about the National Institute of Arthritis and Musculoskeletal and Skin Diseases

 

Collaborators:

Marfan Foundation Logo
The Marfan Foundation is the primary source of accurate and up-to-date information on Marfan syndrome and related disorders. It was founded in 1981 by a handful of individuals seeking help to understand the complex condition affecting themselves and their loved ones.
Find out more about the National Marfan Foundation

  

Turner Syndrome Society Logo
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

  

Ehlers-Danlos Logo
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

 

 

Ehlers-Danlos Syndrome Network C.A.R.E.S. Logo
Established in 2006 by the Founder and President, Lynn Sanders, the Ehlers-Danlos Syndrome Network C.A.R.E.S., Inc. is a 501 (c) (3) Nonprofit Organization for Ehlers-Danlos Syndrome (EDS). Find out more about the Ehlers-Danlos Syndrome Network C.A.R.E.S., Inc.

 

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Contact

 

 

Contact the GenTAC team for questions about GenTAC:

Eser Tolunay eser.tolunay@nih.gov
Patrice Desvigne-Nickens  patrice.desvigne-nickens@nih.gov
Paula Schum paula.schum@nih.gov

Contact BioLINCC if you would like to request GenTAC data, images or biospecimens.

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