National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) - Catalog
National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC)
HLB01421717a
GenTAC
GTC
False
True
True
Coded
https://www.nhlbi.nih.gov/science/national-registry-genetically-triggered-thoracic-aortic-aneurysms-and-cardiovascular
False
Epidemiology Study
Open BioLINCC Study
Both
2017-01-19
2017-01-19
2012-07-23
2017-01-06
October 2006 - September 2016
DCVS
Heart
non-HIV
non-COVID
None
None
No
Yes
Yes
Yes
Yes
Yes
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.
Aortic Aneurysm, Thoracic
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 https://www.nhlbi.nih.gov/research/resources/gentac/research.
A list of GenTAC publications can be found on the GenTAC Alliance website.
Aorta Tissue
Buffy Coat
DNA
EBV Cell Line
Lymphocytes
Plasma
Polymorphonuclear Cells/RBC Pellets
The study population available in BioLINCC study data may be lower than total study enrollment due to Informed Consent restrictions and other factors.
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Subjects
SYNDROME Frequency Missing 3 Marfan syndrome 845 Turner syndrome 298 Ehlers-Danlos syndrome, vascular 149 Ehlers-Danlos syndrome, other 26 Loeys-Dietz syndrome 104 FBN1, TGFBR1 or TGFBR2 genetic mutation 65 Bicuspid aortic valve w/out family history 869 Bicuspid aortic valve w/ family history 20 Shprintzen-Goldberg syndrome 4 Familial Thoracic Aortic Aneurysm and Dissection 369 Other due to trama (<40 years old) 592 Other congenital heart disease w/ family history 115 1st or 2nd degree family member of probrand already enrolled in GenTAC 31 BAV with coarctation 79
NOTE: 50 subjects were flagged with multiple syndromes. These subjects are included in each syndrome's count.
Last Modified: Feb. 3, 2017, 5:39 p.m. -
Age
age_cat Frequency Percent Cumulative
FrequencyCumulative
PercentMissing 1197 34.04 1197 34.04 Discrepant 6 0.17 1203 34.22 <10 107 3.04 1310 37.26 10-19 364 10.35 1674 47.61 20-29 278 7.91 1952 55.52 30-39 372 10.58 2324 66.10 40-49 464 13.20 2788 79.29 50-59 451 12.83 3239 92.12 60-69 205 5.83 3444 97.95 70-79 58 1.65 3502 99.60 >=80 14 0.40 3516 100.00
Last Modified: Feb. 3, 2017, 5:26 p.m. -
Sex
GENDER Frequency Percent Cumulative
FrequencyCumulative
PercentMissing 1081 30.75 1081 30.75 Male 1370 38.96 2451 69.71 Female 1065 30.29 3516 100.00
Last Modified: Feb. 3, 2017, 5:26 p.m. -
Race
race Frequency Percent Cumulative
FrequencyCumulative
PercentMissing 1116 31.74 1116 31.74 Discrepant 16 0.46 1132 32.20 White 2129 60.55 3261 92.75 Black/African American 89 2.53 3350 95.28 Asian 80 2.28 3430 97.55 American Indian/Alaska Native 5 0.14 3435 97.70 Native Hawaiian/Pacific Islander 32 0.91 3467 98.61 Mixed 49 1.39 3516 100.00 ETHNICITY Frequency Percent Cumulative
FrequencyCumulative
PercentMissing 1194 33.96 1194 33.96 Discrepant 5 0.14 1199 34.10 No 2166 61.60 3365 95.71 Yes 151 4.29 3516 100.00
Last Modified: Feb. 3, 2017, 5:26 p.m.
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
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Material Types
Aorta Tissue, Plasma, Lymphocytes, EBV Cell Line, DNA, Buffy Coat, PMNC/RBC Pellet
Last Modified: Feb. 22, 2017, 5:14 p.m. -
General Freeze/Thaw Status01/11/2022
Last Modified: Jan. 11, 2022, 1:14 p.m. -
Visits (Vials)01/11/2022
Table of DRAW by MATTYPE DRAW MATTYPE(VIAL: Material Type) Frequency Aorta Tissue Plasma Lymphocytes EBV Cell Line DNA Buffy Coat PMNC/RBC Pellet Total Unknown 0 0 0 0 9 0 0 9 Draw 1 621 12252 1870 8446 22228 858 1830 48105 Draw 2 475 771 96 367 567 61 109 2446 Draw 3 5 60 9 25 42 5 9 155 Total 1101 13083 1975 8838 22846 924 1948 50715
Last Modified: Jan. 11, 2022, 1:14 p.m. -
Visits (Subjects)01/11/2022
Aorta Tissue Subject Count Average number of vials per subject Draw 1 73 8.51 Draw 2 55 8.64 Draw 3 2 2.50 Plasma Subject Count Average volume (mL) per subject Draw 1 1,820 3.26 Draw 2 99 3.17 Draw 3 7 3.39 Lymphocytes Subject Count Average number of vials per subject Draw 1 1,834 1.02 Draw 2 90 1.07 Draw 3 7 1.29 EBV Cell Line Subject Count Average number of vials per subject Draw 1 1,694 4.99 Draw 2 74 4.96 Draw 3 5 5.00 DNA Subject Count Average mass (ug) per subject Unknown 1 49.00 Draw 1 3,024 85.52 Draw 2 77 104.71 Draw 3 5 115.21 Buffy Coat Subject Count Average number of vials per subject Draw 1 858 1.00 Draw 2 60 1.02 Draw 3 5 1.00
PMNC/RBC Pellet Subject Count Average number of vials per subject Draw 1 870 2.10 Draw 2 55 1.98 Draw 3 5 1.80
Last Modified: Dec. 16, 2022, 9:58 a.m.