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| ID | Type | Description | Link |
|---|---|---|---|
| 268201000048C-5-0-1 | U.S. NIH Grant/Contract | View source | |
| N01HV68199-7-0-1 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) | NIH |
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The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) was initiated in 2006 by the National Heart, Lung, and Blood Institute (NHLBI) and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). GenTAC established a registry of 3706 patients with genetic conditions that may be related to thoracic aortic aneurysms and collected medical data and biologic samples. The study ended in September 2016. Data and samples are available from NHLBI and requests should be made to BioLINCC. See the NHLBI website for more information: https://www.nhlbi.nih.gov/research/resources/gentac/.
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| Measure | Description | Time Frame |
|---|---|---|
| Thoracic aortic aneurysms and dissections and their associated surgical interventions | bi-annual |
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Eligible subjects must have one of the conditions listed below and be enrolled in-person at one of the participating clinical centers.Contact the study coordinator at the location nearest you for more information about participation.
Exclusion Criteria:
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The cohort consists of patients with conditions related to genetically-induced thoracic aortic aneurysms.
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| Name | Affiliation | Role |
|---|---|---|
| Barbara Kroner, PhD, MPH | RTI International | Study Director |
| Richard Devereux, MD | The New York Presbyterian Hospital-Weill Cornell Medical Center | Principal Investigator |
| William Ravekes, M.D. | Johns Hopkins University | Principal Investigator |
| Reed E. Pyeritz, M.D., Ph.D. | University of Pennsylvania | Principal Investigator |
| Dianna M. Milewicz, M.D. Ph.D. | University of Texas Medical School at Houston | Principal Investigator |
| Scott A. LeMaire, M.D. | Baylor College of Medicine | Principal Investigator |
| Cheryl L. Maslen, Ph.D. | Oregon Health and Science University | Principal Investigator |
| Ralph Shohet, MD | University of Hawaii | Principal Investigator |
| Jennifer Habashi, MD | Johns Hopkins University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Queens Medical Center | Honolulu | Hawaii | 96813 | United States | ||
| Johns Hopkins University |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 19185640 | Background | Eagle KA; GenTAC Consortium. Rationale and design of the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC). Am Heart J. 2009 Feb;157(2):319-26. doi: 10.1016/j.ahj.2008.10.005. Epub 2008 Dec 17. | |
| 19635970 | Background | Matt P, Schoenhoff F, Habashi J, Holm T, Van Erp C, Loch D, Carlson OD, Griswold BF, Fu Q, De Backer J, Loeys B, Huso DL, McDonnell NB, Van Eyk JE, Dietz HC; GenTAC Consortium. Circulating transforming growth factor-beta in Marfan syndrome. Circulation. 2009 Aug 11;120(6):526-32. doi: 10.1161/CIRCULATIONAHA.108.841981. Epub 2009 Jul 27. |
| Label | URL |
|---|---|
| GenTAC project resources being maintained by NHLBI since contract end. | View source |
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If a blood specimen is obtained, it is separated and stored as plasma, viable cells, and extracted DNA. If a saliva specimen is obtained, it is stored for DNA.
| Federico M. Asch, MD,FACC,FASE | MedStar Health | Principal Investigator |
| Kim Eagle, M.D. | University of Michigan | Study Chair |
| Baltimore |
| Maryland |
| 21287 |
| United States |
| The New York Presbyterian Hospital-Weill Cornell Medical Center | New York | New York | 10021 | United States |
| Oregon Health & Science University | Portland | Oregon | 97239 | United States |
| University of Pennsylvania School of Medicine | Philadelphia | Pennsylvania | 19104-4283 | United States |
| Baylor College of Medicine | Houston | Texas | 77030 | United States |
| University of Texas Medical School at Houston | Houston | Texas | 77030 | United States |
| 21698135 | Background | Kuang SQ, Guo DC, Prakash SK, McDonald ML, Johnson RJ, Wang M, Regalado ES, Russell L, Cao JM, Kwartler C, Fraivillig K, Coselli JS, Safi HJ, Estrera AL, Leal SM, LeMaire SA, Belmont JW, Milewicz DM; GenTAC Investigators. Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections. PLoS Genet. 2011 Jun;7(6):e1002118. doi: 10.1371/journal.pgen.1002118. Epub 2011 Jun 16. |
| 21723533 | Background | Mendoza DD, Kochar M, Devereux RB, Basson CT, Min JK, Holmes K, Dietz HC, Milewicz DM, LeMaire SA, Pyeritz RE, Bavaria JE, Maslen CL, Song H, Kroner BL, Eagle KA, Weinsaft JW; GenTAC (National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Study Investigators. Impact of image analysis methodology on diagnostic and surgical classification of patients with thoracic aortic aneurysms. Ann Thorac Surg. 2011 Sep;92(3):904-12. doi: 10.1016/j.athoracsur.2011.03.130. Epub 2011 Jul 2. |
| 21909107 | Background | LeMaire SA, McDonald ML, Guo DC, Russell L, Miller CC 3rd, Johnson RJ, Bekheirnia MR, Franco LM, Nguyen M, Pyeritz RE, Bavaria JE, Devereux R, Maslen C, Holmes KW, Eagle K, Body SC, Seidman C, Seidman JG, Isselbacher EM, Bray M, Coselli JS, Estrera AL, Safi HJ, Belmont JW, Leal SM, Milewicz DM. Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. Nat Genet. 2011 Sep 11;43(10):996-1000. doi: 10.1038/ng.934. |
| 23910461 | Background | Guo DC, 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; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project; Kim C, Milewicz DM. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet. 2013 Aug 8;93(2):398-404. doi: 10.1016/j.ajhg.2013.06.019. Epub 2013 Aug 1. |
| 23743550 | Background | Prakash S, Guo D, Maslen CL, Silberbach M, Milewicz D, Bondy CA; GenTAC Investigators. Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome. Genet Med. 2014 Jan;16(1):53-9. doi: 10.1038/gim.2013.77. Epub 2013 Jun 6. |
| 24531548 | Background | Cook JR, Carta L, Benard L, Chemaly ER, Chiu E, Rao SK, Hampton TG, Yurchenco P; GenTAC Registry Consortium; Costa KD, Hajjar RJ, Ramirez F. Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome. J Clin Invest. 2014 Mar;124(3):1329-39. doi: 10.1172/JCI71059. Epub 2014 Feb 17. |
| 25296451 | Background | Song HK, Preiss LR, Maslen CL, Kroner B, Devereux RB, Roman MJ, Holmes KW, Tolunay HE, Desvigne-Nickens P, Asch FM, Milewski RK, Bavaria J, LeMaire SA; GenTAC Consortium. Valve-sparing aortic root replacement in patients with Marfan syndrome enrolled in the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions. J Heart Valve Dis. 2014 May;23(3):292-8. |
| 26506064 | Background | Doyle JJ, Doyle AJ, Wilson NK, Habashi JP, Bedja D, Whitworth RE, Lindsay ME, Schoenhoff F, Myers L, Huso N, Bachir S, Squires O, Rusholme B, Ehsan H, Huso D, Thomas CJ, Caulfield MJ, Van Eyk JE, Judge DP, Dietz HC; GenTAC Registry Consortium; MIBAVA Leducq Consortium. A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan syndrome. Elife. 2015 Oct 27;4:e08648. doi: 10.7554/eLife.08648. |
| 26897684 | Background | 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 17. |
| 25557781 | Background | Guo DC, Gong L, Regalado ES, Santos-Cortez RL, Zhao R, Cai B, Veeraraghavan S, Prakash SK, Johnson RJ, Muilenburg A, Willing M, Jondeau G, Boileau C, Pannu H, Moran R, Debacker J; GenTAC Investigators, National Heart, Lung, and Blood Institute Go Exome Sequencing Project; Montalcino Aortic Consortium; Bamshad MJ, Shendure J, Nickerson DA, Leal SM, Raman CS, Swindell EC, Milewicz DM. MAT2A mutations predispose individuals to thoracic aortic aneurysms. Am J Hum Genet. 2015 Jan 8;96(1):170-7. doi: 10.1016/j.ajhg.2014.11.015. Epub 2014 Dec 31. |
| 26854927 | Background | 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. J Clin Invest. 2016 Mar 1;126(3):948-61. doi: 10.1172/JCI83778. Epub 2016 Feb 8. |
| 27092555 | Background | Prakash S, Kuang SQ; GenTAC Registry Investigators; Regalado E, Guo D, Milewicz D. Recurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and Dissections. PLoS One. 2016 Apr 19;11(4):e0153543. doi: 10.1371/journal.pone.0153543. eCollection 2016. |
| 27282895 | Background | 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. Aortic Dissection in Patients With Genetically Mediated Aneurysms: Incidence and Predictors in the GenTAC Registry. J Am Coll Cardiol. 2016 Jun 14;67(23):2744-2754. doi: 10.1016/j.jacc.2016.03.570. |
| 27515814 | Background | 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. Aortic Complications Associated With Pregnancy in Marfan Syndrome: The NHLBI National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC). J Am Heart Assoc. 2016 Aug 11;5(8):e004052. doi: 10.1161/JAHA.116.004052. |
| 27604636 | Background | 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. Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry. Am J Med Genet A. 2016 Dec;170(12):3157-3164. doi: 10.1002/ajmg.a.37953. Epub 2016 Sep 8. |
| 27569546 | Background | 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. Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections. Am J Hum Genet. 2016 Sep 1;99(3):762-769. doi: 10.1016/j.ajhg.2016.06.034. Epub 2016 Aug 25. |
| 19699898 | Result | Song HK, Bavaria JE, Kindem MW, Holmes KW, Milewicz DM, Maslen CL, Pyeritz RE, Basson CT, Eagle K, Tolunay HE, Kroner BL, Dietz H, Menashe V, Devereux RB, Desvigne-Nickens P, Ravekes W, Weinsaft JW, Brambilla D, Stylianou MP, Hendershot T, Mitchell MS, LeMaire SA; National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) Consortium. Surgical treatment of patients enrolled in the national registry of genetically triggered thoracic aortic conditions. Ann Thorac Surg. 2009 Sep;88(3):781-7; discussion 787-8. doi: 10.1016/j.athoracsur.2009.04.034. |
| 21982653 | Result | Kroner BL, Tolunay HE, Basson CT, Pyeritz RE, Holmes KW, Maslen CL, Milewicz DM, LeMaire SA, Hendershot T, Desvigne-Nickens P, Devereux RB, Dietz HC, Song HK, Ringer D, Mitchell M, Weinsaft JW, Ravekes W, Menashe V, Eagle KA. The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC): results from phase I and scientific opportunities in phase II. Am Heart J. 2011 Oct;162(4):627-632.e1. doi: 10.1016/j.ahj.2011.07.002. |
| 22104675 | Result | Song HK, Kindem M, Bavaria JE, Dietz HC, Milewicz DM, Devereux RB, Eagle KA, Maslen CL, Kroner BL, Pyeritz RE, Holmes KW, Weinsaft JW, Menashe V, Ravekes W, LeMaire SA; 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. J Thorac Cardiovasc Surg. 2012 Feb;143(2):282-6. doi: 10.1016/j.jtcvs.2011.10.024. Epub 2011 Nov 20. |
| 23444191 | Result | 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; GenTAC Registry Consortium. GenTAC registry report: gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection. Am J Med Genet A. 2013 Apr;161A(4):779-86. doi: 10.1002/ajmg.a.35836. Epub 2013 Feb 26. |
| ID | Term |
|---|---|
| D008382 | Marfan Syndrome |
| D014424 | Turner Syndrome |
| D004535 | Ehlers-Danlos Syndrome |
| D055947 | Loeys-Dietz Syndrome |
| C566039 | Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
| C562834 | Aortic Aneurysm, Familial Thoracic 1 |
| C537328 | Shprintzen Golberg craniosynostosis |
| D000082882 | Bicuspid Aortic Valve Disease |
| D000783 | Aneurysm |
| ID | Term |
|---|---|
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
| D006330 | Heart Defects, Congenital |
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D006059 | Gonadal Dysgenesis |
| D012734 | Disorders of Sex Development |
| D014564 | Urogenital Abnormalities |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D058533 | Sex Chromosome Disorders of Sex Development |
| D052801 | Male Urogenital Diseases |
| D025064 | Sex Chromosome Disorders |
| D025063 | Chromosome Disorders |
| D006058 | Gonadal Disorders |
| D004700 | Endocrine System Diseases |
| D020141 | Hemostatic Disorders |
| D014652 | Vascular Diseases |
| D006474 | Hemorrhagic Disorders |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D012868 | Skin Abnormalities |
| D012873 | Skin Diseases, Genetic |
| D003095 | Collagen Diseases |
| D012871 | Skin Diseases |
| D019465 | Craniofacial Abnormalities |
| D009139 | Musculoskeletal Abnormalities |
| D001014 | Aortic Aneurysm |
| D001018 | Aortic Diseases |
| D000082862 | Aortic Valve Disease |
| D006349 | Heart Valve Diseases |
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