The GenTAC resources (data, images and biospecimens) are available to investigators interested in studying genetically induced thoracic aortic aneurysms and related conditions. GenTAC has data available from several organ systems.
- Apply to Use GenTAC Resources
- Available GenTAC Resources
- Summary of GenTAC Research
Apply to Use GenTAC Resources
De-identified GenTAC data and biospecimens, and images are available at BioLINCC, the NHLBI Biologic Specimen and Data Repository Information Coordinating Center.
Available GenTAC Resources
GenTAC has DNA isolated from either white blood cells (buffy coat and PBMCs) or saliva available for DNA analyses for nearly all enrolled patients. More than half of the enrolled patients have plasma. Additionally, aortic tissue is available from about 100 patients who underwent surgery after enrollment. See the summary below and contact BioLINCC for more information about what data, biospecimens and images are available for your research.
Eagle, K. A., & GenTAC Consortium. (2009).Rationale and design of the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions(GenTAC). American Heart Journal, 157(2), 319–326. Epub 2008 Dec 17.
Song, H. K., Bavaria, J. E., Kindem, M. W., Holmes, K. W., Milewicz, D. M., Maslen, C. L., et al. (2009). Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) Consortium. Surgical Management of Patients Enrolled in GenTAC-- The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions. Annals of Thoracic Surgery, 88(3), 781–787. discussion 787–788.
Matt, P., Schoenhoff, F., Habashi, J., Holm, T., Van Erp, C., Loch, D., et al. (2009). Circulating transforming growth factor-beta in Marfan syndrome. Circulation, 120(6), 526–532. Epub 2009 Jul 27.
Kuang, S.-Q., Guo, D.-C., Prakash, S. K., Johnson, R. J., Wang, M., Regalado, E., et al. (2011). Recurrent chromosomes 16p13.1 duplications are a risk factor for aortic dissection. PLoS Genetics, 7(6), e1002118.
Mendoza, D. D., Kochar, M., Devereux, R. B., Basson, C. T., Min, J. K., Holmes, K., et al. (2011). Impact of image analysis methodology on diagnostic and surgical classification of patients with thoracic aortic aneurysms. Annals of Thoracic Surgery, 92, 904–912.
LeMaire, S. A., McDonald, M.-L. N., Guo, D.-C., Russell, L., Miller, C. C. III, Johnson, R. J., et al. (2011). Genome-wide association studies identify a major susceptibility locus for thoracic aortic aneurysms and aortic dissections at 15q21.1 encompassing FBN1. Nature Genetics. doi: 10.1038/ng.934.
Kroner, B. L., Tolunay, H. E., Basson, C. T., Pyeritz, R. E., Holmes, K. W., Maslen, C. L., et al. (2011). The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC): Results from phase I and scientific opportunities in phase II. America Heart Journal, 162(4), 627–632.e1.
Song, H.K., Kindem, M., Bavaria, J.E., Dietz, H.C., Milewicz, D.M., et al. (2012) Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Consortium: Long-term implications of emergency versus elective proximal aortic surgery in patients with Marfan syndrome in the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Consortium Registry. Journal of Thoracic Cardiovascular Surgery. 143 (2):282-6.
Holmes KW, Maslen CL, Kindem M, Kroner BL, Song HK, Ravekes W, Dietz HC, Weinsaft JW, Roman MJ, Devereux RB, Pyeritz RE, Bavaria J, Milewski K, Milewicz D, LeMaire SA, Hendershot T, Eagle KA, Tolunay HE, Desvigne-Nickens P, Silberbach M, for the GenTAC Registry Consortium. 2013. GenTAC registry report: Gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection. American Journal of Medical Genetics Part A.
Prakash S, Guo D, Maslen CL, Silberbach M, Milewicz D, Bondy CA, for the GenTAC Registry Consortium. 2013. Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome. Genetics in Medicine. doi: 10.1038/gim.2013.77
Guo D-C, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, Rieder MJ, Bamshad MJ, Nickerson DA, GenTAC Registry Consortium, NHLBI Go Exome Sequencing Project, Kim C, Milewicz DM. (2013). Recurrent gain of function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. American Journal of Human Genetics 93(2):398-404. PMC3738837
Cook JR, Carta L, Bénard L, Chemaly ER, Chiu E, Rao SK, Hampton TG, Yurchenco P; GenTAC Registry Consortium, Costa KD, Hajjar RJ, Ramirez F. (2014).Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome. The Journal of Clinical Investigation. 124(3):1329-39. doi: 10.1172/JCI71059.
Song HK, Preiss LR, Maslen CL, Kroner BL, Devereux RB, Roman, MJ, Holmes KW, Tolunay HE, Desvigne-Nickens, P, Asch FM, Milewski RK, Bavaria J, LeMaire SA, the GenTAC Consortium. (2014) Valve Sparing Aortic Root Replacement in Patients with Marfan Syndrome Enrolled in the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions. The Journal of Heart Valve Disease. 2014 May;23(3):292-8.
Dong-chuan Guo, Limin Gong, Ellen S. Regalado, Regie L. Santos-Cortez, Ren Zhao, Bo Cai, Sudha Veeraraghavan, Siddharth K. Prakash, Ralph J. Johnson, Ann Muilenburg, Marcia Willing, Guillaume Jondeau, Catherine Boileau, Hariyadarshi Pannu, Rocio Moran, Julie Debacker, GenTAC Investigators, National Heart, Lung, and Blood Institute Go Exome Sequencing Project, Montalcino Aortic Consortium, Michael J. Bamshad, Jay Shendure, Deborah A. Nickerson, Suzanne M. Leal, C.S. Raman, Eric C. Swindell, and Dianna M. Milewicz. MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms. The American Journal of Human Genetics 96, 170–177, January 8, 2015
Doyle JJ, Doyle AJ, Wilson NK, et al. A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan syndrome. Young SG, ed. eLife. 2015;4:e08648. doi:10.7554/eLife.08648.
Kuang SQ, Medina-Martinez O, Guo DC, Gong L, Regalado ES, Reynolds CL, Boileau C, Jondeau G, Prakash SK, Kwartler CS, Zhu LY, Peters AM, Duan XY, Bamshad MJ, Shendure J, Nickerson DA, Santos-Cortez RL, Dong X, Leal SM, Majesky MW, Swindell EC, Jamrich M, Milewicz DM. FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. The Journal of clinical investigation. 2016 Feb 8. pii: 83778. doi: 10.1172/JCI83778.
Asch FM, Yuriditsky E, Prakash SK, Roman MJ, Weinsaft JW, Weissman G, Weigold WG, Morris SA, Ravekes WJ, Holmes KW, Silberbach M, Milewski RK, Kroner BL, Whitworth R, Eagle KA, Devereux RB, Weissman NJ, GenTAC Investigators. The Need for Standardized Methods for Measuring the Aorta: Multimodality Core Lab Experience From the GenTAC Registry. JACC Cardiovasc Imaging. 2016 Mar;9(3):219-26. doi: 10.1016/j.jcmg.2015.06.023. Epub 2016 Feb
Prakash S, Kuang SQ; GenTAC Registry Investigators, Regalado E, Guo D, Milewicz D. PLoS One. 2016 Apr 19;11(4):e0153543. doi: 10.1371/journal.pone.0153543. eCollection 2016. Recurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and Dissections.
Weinsaft JW, Devereux RB, Preiss LR, Feher A, Roman MJ, Basson CT, Geevarghese A, Ravekes W, Dietz HC, Holmes K, Habashi J, Pyeritz RE, Bavaria J, Milewski K, LeMaire SA, Morris S, Milewicz DM, Prakash S, Maslen C, Song HK, Silberbach GM, Shohet RV, McDonnell N, Hendershot T, Eagle KA, Asch FM; GenTAC Registry Investigators.. J Am Coll Cardiol. 2016 Jun 14;67(23):2744-54. doi: 10.1016/j.jacc.2016.03.570. Aortic Dissection in Patients With Genetically Mediated Aneurysms: Incidence and Predictors in the GenTAC Registry.
Roman MJ, Pugh NL, Hendershot TP, Devereux RB, Dietz H, Holmes K, Eagle KA, LeMaire SA, Milewicz DM, Morris SA, Pyeritz RE, Ravekes WJ, Shohet RV, Silberbach M; GenTAC InvestigatorsDietzHarry C.HabashiJenniferPrakashSiddharth K.MaslenCheryl L.SongHoward K.BavariaJoseph E.MilewskiKariannaWeinsaftJonathan W.McDonnellNazliAschFederico M.TolunayH. EserDesvigne‐NickensPatriceTsengHungKronerBarbara L. J Am Heart Assoc. 2016 Aug 11;5(8). pii: e004052. doi: 10.1161/JAHA.116.004052. Aortic Complications Associated With Pregnancy in Marfan Syndrome: The NHLBI National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC).
Guo DC, Grove ML, Prakash SK, Eriksson P, Hostetler EM, LeMaire SA, Body SC, Shalhub S, Estrera AL, Safi HJ, Regalado ES, Zhou W, Mathis MR; GenTAC Investigators; BAVCon Investigators, Eagle KA, Yang B, Willer CJ, Boerwinkle E, Milewicz DM. Am J Hum Genet. 2016 Sep 1;99(3):762-9. doi: 10.1016/j.ajhg.2016.06.034. Epub 2016 Aug 25. Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections.
Prakash SK, Bondy CA, Maslen CL, Silberbach M, Lin AE, Perrone L, Limongelli G, Michelena HI, Bossone E, Citro R; BAVCon Investigators, GenTAC Registry Investigators, Lemaire SA, Body SC, Milewicz DM. Am J Med Genet A. 2016 Sep 8. doi: 10.1002/ajmg.a.37953. [Epub ahead of print] Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry.
Summary of GenTAC Research
Introduction to GenTAC - Dr. Tolunay and Dr. Desvigne-Nickens - 8/15/2013
In this brief video Dr. Kim Eagle, Study Chair of the GenTAC Registry, interviews H. Eser Tolunay, the Deputy Chief of the Vascular Biology and Hypertension Branch and Patrice Desvigne-Nickens, Medical Officer in the Heart Failure and Arrhythmias Branch in the Division of Cardiovascular Sciences at the National Heart, Lung, and Blood Institute (NHLBI), to introduce and discuss the origins of the GenTAC Registry established by NHLBI. They describe the cohort of patients in the Registry and the resources available to investigators.
Genetics of Thoracic Aortic Disease and Dissections - Dr. Milewicz - 10/1/2013
In this brief podcast Dr. Kim Eagle, Study Chair of the GenTAC Registry, interviews Dianna Milewicz, M.D., Ph.D., Professor and Chair of the Department of Genetics at The University of Texas Health Science Center at Houston (UT Health) to discuss the genetics research on thoracic aortic aneurysms and dissections. She highlights research on families with a clear inherited pedigree for thoracic aortic aneurysm and/or aortic dissection and genetic tests available for familial disease.
Management of Aortic Disease in on Turner Syndrome - Dr. Maslen and Dr. Silberbach - 11/15/2013
In this brief podcast Dr. Kim Eagle, Study Chair of the GenTAC Registry, interviews Cheryl L. Maslen, Ph.D., Professor of Cardiovascular Medicine and of Molecular and Medical Genetics and Michael Silberbach, M.D., Professor of Pediatric Cardiology at Oregon Health & Science University to discuss the Turner Syndrome research being done by the GenTAC team. They highlight the incidence and clinical management of aortic and congenital heart disease in this patient population, and discuss research on genetic associations.
Imaging the Aorta - Dr. Devereux- 1/2/2014
In this brief podcast Dr. Kim Eagle, Study Chair of the GenTAC Registry, interviews Richard Devereux, M.D., Director of the Adult Echocardiography Laboratory at the Weill Cornell Center of the New York Presbyterian Hospital to discuss imaging of the aorta. Dr. Devereux highlights how imaging varies by age, gender, and imaging technique and discusses best practices.
GenTAC Images and Imaging Core Lab - Federico M. Asch - 2/14/2014
In this brief podcast Dr. Kim Eagle, Study Chair of the GenTAC Registry, interviews Federico M. Asch, MD, FACC, FASE, the Associate Director of the Cardiovascular Core Lab at MedStar Washington Hospital Center and Assistant Professor of Medicine at Georgetown University, to discuss the GenTAC imaging core lab and type of research projects that can be done using the GenTAC images.
Genetics and Treatment of Vascular Ehlers-Danlos Syndrome - Dr. Milewicz and Dr. Shalhub - 4/2/2014
In this brief podcast Dr. Kim Eagle, Study Chair of the GenTAC Registry, interviews Dianna Milewicz, M.D., Ph.D., Professor and Chair of the Department of Genetics at the University of Texas Health Science Center at Houston and Sherene Shalhub, M.D., M.P.H., Assistant Professor of Vascular Surgery at the University of Washington to discuss the genetic basis of vascular Ehlers-Danlos Syndrome (EDS), and the prevention of vascular complications using medical therapies and surgical procedures.
Genetics of Thoracic Aortic Disease - Dr. Siddarth Prakash – 5/15/2014
In this brief podcast Dr. Kim Eagle, Study Chair of the GenTAC Registry, interviews Siddharth Prakash, M.D., Ph.D., Assistant Professor in the Department of Genetics at the University of Texas Health Science Center at Houston to discuss the different types of genetic mutations that cause thoracic aortic disease, the importance of raising awareness about aortic disease and the opportunity to screen family members, and the potential uses of genetic information for clinical management of patients with aortic disease.
Aortic Valve Surgery in Marfan Syndrome Patients - Dr. Scott LeMaire – 7/1/2014
In this brief podcast Dr. Kim Eagle, Study Chair of the GenTAC Registry, interviews Scott LeMaire, M.D., Professor of Surgery and of Molecular Physiology and Biophysics at Baylor College of Medicine, who discusses the treating aortic valve regurgitation in Marfan Syndrome (MFS) patients undergoing ascending aortic repair.
History and Future of Genetics Research in Thoracic Aortic Disease - Dr. Reed Pyeritz- 10/15/2014
In this brief podcast Dr. Kim Eagle, Study Chair of the GenTAC Registry, interviews Dr. Reed Pyeritz, M.D., Ph.D., Vice Chairman for Academic Affairs of the Department of Internal Medicine for the Hospital of the University of Pennsylvania, to discuss the history and future of genetics research in thoracic aortic disease.
International Bicuspid Aortic Valve Consortium (BAVCon) - Dr. Simon Body- 12/1/2014
In this brief podcast Dr. Kim Eagle, Study Chair of the GenTAC Registry, interviews Simon Body, M.D., Associate Professor of Anesthesiology at Harvard Medical School and the lead investigator of the International Bicuspid Aortic Valve Consortium (BAVCon) registry. Dr. Body describes BAVCON, a consortium of institutions with cohorts of patients with bicuspid aortic valve (BAV), and the current research in this registry.
Valve-Sparing Aortic Root Surgery - Dr. Scott LeMaire- 1/15/15
In this brief podcast Dr. Kim Eagle, Study Chair of the GenTAC Registry, interviews Scott LeMaire, M.D., Professor of Surgery and of Molecular Physiology and Biophysics at Baylor College of Medicine, who highlights the current research in valve-sparing aortic root replacement surgery.International Bicuspid Aortic Valve Consortium (BAVCon) - Dr. Simon Body- 12/1/2014
TGFβ as Biomarker and Other Research on Marfan Syndrome - Dr. Hal Dietz- 3/1/2015
In this brief podcast Dr. Kim Eagle, Study Chair of the GenTAC Registry, interviews Hal Dietz, M.D., Victor McKusick Professor of Genetics in the Departments of Medicine, Pediatrics, and Molecular Biology and Genetics at Johns Hopkins University School of Medicine, to discuss TGFβ as biomarker and other research on Marfan syndrome.
Dynamic Imaging of Aorta - Dr. Rachel Clough- 4/15/15
In this brief podcast Dr. Kim Eagle, Study Chair of the GenTAC Registry, interviews Rachel Clough, M.D., Ph.D., at the National Institute for Health Research, and Clinical Lecturer in the Division of Imaging Sciences at Kings College in London, who discusses advances in the field of Dynamic Imaging of aorta.
Arterial Tortuosity and Outcomes in Aortic Disease - Dr. Shaine Morris - 6/1/2015
In this brief podcast Dr. Kim Eagle, Study Chair of the GenTAC Registry, interviews Shaine Morris, M.D., Assistant Professor of Pediatrics in the section of Cardiology at the Baylor College of Medicine, who discusses arterial tortuosity and the research on correlating arterial tortuosity with aortic outcomes.
Treatment of Acute Aortic Syndromes - Dr. Eric Roselli – 7/15/2015
In this brief podcast Dr. Kim Eagle, Study Chair of the GenTAC Registry, interviews Erick Roselli, M.D., Staff Surgeon at the Department of Thoracic and Cardiac Surgery at the Cleveland Clinic, to discuss the treatment of acute aortic disease.