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

Note that you will be prompted to log in or register an account

Accession Number

Study Type
Epidemiology Study

Collection Type
Open BioLINCC Study See bottom of this webpage for request information

Study Period
October 2006 - September 2016

NHLBI Division

Dataset(s) Last Updated
January 3, 2018


Commercial Use Data Restrictions No

Data Restrictions Based On Area Of Research Yes

Commercial Use Specimen Restrictions Yes

Non-Genetic Use Specimen Restrictions Based On Area Of Use Yes

Genetic Use Of Specimens Allowed? Yes

Genetic Use Area Of Research Restrictions Yes

Specific Consent Restrictions
Use of data and/or biospecimens is restricted to research involving heart and blood vessel diseases. Study participants were given the option to consent to commercial use of DNA biospecimens, as well as for the creation of cell lines.


The overall objective of GenTAC was to establish a registry of patients with genetically induced thoracic aortic aneurysms and related cardiovascular conditions, and collect associated medical data, as well as blood and tissue samples and make them available to investigators to advance research in diagnosis and management of genetically induced thoracic aortic aneurysms.


Thoracic aortic aneurysms (TAAs) predispose individuals to life threatening aortic complications, including aortic dissection and rupture. The treatment of complications arising from TAAs is complex, with high rates of morbidity, mortality, and surgical procedures. TAAs are associated with loss of vascular smooth muscle cells and degeneration of extracellular matrix in the aortic wall. This degeneration may be caused by hypertension and inflammation, particularly in elderly individuals. Genetic mutations are the main cause of TAAs in many young or middle-aged individuals. Genetic disorders, such as Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome, have a high risk for TAA, and up to 20% of individuals with TAAs or dissection have a family history of TAAs without being affected by a known syndrome or known genetic mutation. While diagnostic and treatment advances have dramatically improved care for patients with genetically induced TAAs, many questions remain about how best to identify and treat these disorders. Thus, GenTAC was developed as a longitudinal registry for patients affected by genetically induced thoracic aortic conditions in order to facilitate ongoing and future investigations to improve the diagnosis and clinical management of patients with genetically induced TAAs. Information gained from studying the genetically induced TAAs is expected to benefit the clinical management of non-genetic TAAs, as well.


Eligible participants must have one of the following conditions: Marfan syndrome; Turner syndrome; Ehlers-Danlos syndrome; Loeys-Dietz syndrome; Shprintzen-Goldberg syndrome; FBN1, TGFBR1, TGFBR2, ACTA2 or MYH11 genetic mutation; bicuspid aortic valve; Familial Thoracic Aortic Aneurysm and Dissections; other thoracic aortic aneurysms and dissections (not due to trauma) in patients 50 years of age or less; or other congenital heart disease. Over 3,500 participants were enrolled.


GenTAC was a longitudinal observational cohort study of affected individuals with either known or suspected genetic mutation that predisposes them for thoracic aortic aneurysms and dissections (TAAD). There were no interventions planned, and all decisions regarding approaches to treatment were to be made by the patients and their care teams. Enrollment data were abstracted from medical records or obtained through patient interviews. The data collected include clinical evaluations (by several organ systems), historically diagnosed conditions and outcomes and drug treatment; patient reported quality of life, co-morbidities, family history, smoking, alcohol use, and pregnancy history; most recent imaging evaluations, genetic testing, blood chemistry, and surgical interventions. When blood could not be collected from participants, a saliva sample was obtained as a source of DNA. Excess aortic tissue was frozen from participants that underwent surgery. Follow-up data was collected at regular intervals for each participant enrolled, with the interval varying by the diagnosis. Follow-up data include outcomes, clinical and imaging evaluations and treatment and lifestyle changes since the enrollment visit. Images were read by the imaging core according to the study protocol. Diagnosis of each participant was confirmed by the phenotyping core.


GenTAC established a vast biospecimen inventory and clinical database from over 3500 participants that is available to researchers with the ultimate goal of advancing the diagnosis and management of genetically induced thoracic aortic aneurysms and other cardiovascular complications. Some of the publications resulting from analysis of the GenTAC data and biospecimens can be found at

Novel Evaluation of GenTAC Images is Available

The National Registry of Genetically Triggered Thoracic Aortic Aneurysms (GenTAC) was established to advance research in diagnosis and management of genetically induced thoracic aortic aneurysms. GenTAC data and biospecimens now reside at BioLINCC and are available for investigators. Clinical data available through BioLINCC include core laboratory readings of serial 2D echo, CT and MRI images. These images were acquired according to clinical need as determined by the enrolling clinical centers, and therefore the acquisition was not standardized by protocol. Analysis of the images was, however, performed at the Imaging Core Lab according to a pre-specified protocol that was applied to all imaging modalities equally.

MedStar Imaging Core Lab Capacity for Re-Reading Raw GenTAC Images

A special feature of the imaging data is that the raw digitized images reside at MedStar Health Research Institute’s Cardiovascular Core Lab, in Washington, DC (MedStar). MedStar is willing to consider applications from researchers who have obtained GenTAC data through BioLINCC and who wish to have additional or novel evaluation of GenTAC images beyond the image readings obtained under the original GenTAC study protocol.

The GenTAC Imaging Core Lab would be happy to consider scientific proposals and determine feasibility and costs of analysis that investigators propose in order to support their research. Funding for additional image analysis by the Core Lab would be provided by the researcher under a pricing structure to be determined by the Core Lab based upon the scope of effort for the specific proposed project. Agreements for re-reading of images would be between the researcher and the Core Lab.

Application Process

Applications for additional image evaluations will only be accepted by the Imaging Core Lab from investigators who have received GenTAC data from BioLINCC and who have determined that their question cannot be answered by the imaging data available in the GenTAC data. The application form, instructions, and contact information for the Imaging Core Lab will be made available for request upon approval and fulfillment of a GenTAC data request through BioLINCC.


A list of GenTAC publications can be found on the GenTAC Alliance website.

Additional Details

Marfan syndrome845
Turner syndrome298
Ehlers-Danlos syndrome, vascular149
Ehlers-Danlos syndrome, other26
Loeys-Dietz syndrome104
FBN1, TGFBR1 or TGFBR2 genetic mutation65
Bicuspid aortic valve w/out family history869
Bicuspid aortic valve w/ family history20
Shprintzen-Goldberg syndrome4
Familial Thoracic Aortic Aneurysm and Dissection369
Other aneurysms/dissections of the thoracic aorta not due to trauma (<40 years old)592
Other congenital heart disease w/ family history115
1st or 2nd degree family member of probrand already enrolled in GenTAC31
BAV with coarctation79

NOTE: 50 subjects were flagged with multiple syndromes. These subjects are included in each syndrome's count.

Black/African American892.53335095.28
American Indian/Alaska Native50.14343597.70
Native Hawaiian/Pacific Islander320.91346798.61



Please note that biospecimen availability is subject to review by the NHLBI, BioLINCC, and the NHLBI Biorepository. Certain biospecimens may not be made available for your request. Section 3 of the BioLINCC handbook describes the components of the review process

Material Types:

Aorta Tissue, Plasma, Lymphocytes, EBV Cell Line, DNA, Buffy Coat, PMNC/RBC Pellet

General Freeze/Thaw Status:


 Number of Freeze/Thaws
DRAWVIAL: Material Type9......
Draw 1Aorta Tissue5238486...
EBV Cell Line47653465216....
Buffy Coat857..1...
PMNC/RBC Pellet1830......
Draw 2Aorta Tissue455146....
EBV Cell Line18516022....
Buffy Coat61......
PMNC/RBC Pellet109......
Draw 3Aorta Tissue5......
EBV Cell Line1015.....
Buffy Coat5......
PMNC/RBC Pellet9......
Visits (Vials):


Table of DRAW by MATTYPE
FrequencyAorta TissuePlasmaLymphocytesEBV Cell LineDNABuffy CoatPMNC/RBC PelletTotal
Draw 1621122521870844622228858183048105
Draw 247577196367567611092446
Draw 35609254259155
Visits (Subjects):


 Aorta Tissue
Subject CountAverage number of vials per subject
Draw 1738.51
Draw 2558.64
Draw 322.50


Subject CountAverage volume (mL) per subject
Draw 11,8203.26
Draw 2993.17
Draw 373.39
Subject CountAverage number of vials per subject
Draw 11,8341.02
Draw 2901.07
Draw 371.29


 EBV Cell Line
Subject CountAverage number of vials per subject
Draw 11,6944.99
Draw 2744.96
Draw 355.00


Subject CountAverage mass (ug) per subject
Draw 13,02485.52
Draw 277104.71
Draw 35115.21


 Buffy Coat
Subject CountAverage number of vials per subject
Draw 18581.00
Draw 2601.02
Draw 351.00


 PMNC/RBC Pellet
Subject CountAverage number of vials per subject
Draw 18702.10
Draw 2551.98
Draw 351.80


Please note that researchers must be registered on this site to submit a request, and you will be prompted to log in. If you are not registered on this site, you can do so via the Request button. Registration is quick, easy and free.

Resources Available

Specimens and Study Datasets

Materials Available

Study Documents

Persons using assistive technology may not be able to fully access information in the study documents. For assistance, Contact BioLINCC and include the web address and/or publication title in your message. If you need help accessing information in different file formats such as PDF, XLS, DOC, see Instructions for Downloading Viewers and Players.