Publications

  • Clinical Outcomes in Patients With Bicuspid Aortic Valves and Ascending Aorta ≥50 mm Under Surveillance

    Authors: Zi Ye MD, PhD, Colleen E. Lane MD, Joel D. Beachey MD, Jose Medina-Inojosa MD, MSc, Laura Galian-Gay MD, Ilaria Dentamaro MD, Jose Rodriguez-Palomares MD, Francisco Calvo-Iglesias MD, Rafael Cobas Paz MD, Josep M. Alegret MD, Violeta Sanchez MD, Sergio Moral MD, Michele Bellino MD, Rodolfo Citro MD, Maurice Enriquez-Sarano MD, Rodrigo P. Bagnati MD, Ana B. Garcia Duran MD, Arturo Evangelista MD, Hector I. Michelena MD, International Bicuspid Aortic Valve Consortium (BAVCon)

    Journal: JACC: Advances, October 2023

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    Bicuspid aortic valve: Long-term morbidity and mortality

    Authors: Li-Tan Yang, Zi Ye, Muhammad Wajih Ullah, Joseph J Maleszewski, Christopher G Scott, Ratnasari Padang, Sorin V Pislaru, Vuyisile T Nkomo, Sunil V Mankad, Patricia A Pellikka, Jae K Oh, Veronique L Roger, Maurice Enriquez-Sarano, Hector I Michelena

    Journal: European Heart Journal (2023)

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  • A mixed method approach to understanding the impact of COVID-19 on patients with or at risk for aortic dissection

    Authors: Jenney R. Lee, Courtney Segal, Jake Howitt, Sarah O. Lawrence, Josephine Grima, Kim Eagle, Karen Wood, Peter Byers, Eva Klein-Rogers, Dianna Milewicz, Firas Mussa, Timo Soderlund, Novelette Cotter, Melanie Case, Debra Trotter, Sherene Shalhub

    Journal: Seminars in Vascular Surgery, March 2022

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    The mental health impact of aortic dissection

    Authors: Nicole Ilonzo, Ella Taubenfeld, Maisoon D. Yousif, Claudine Henoud, Jake Howitt, Max Wohlauer, Mario D'Oria, Gretchen MacCarrick, Aortic Dissection Collaborative

    Journal: Seminars in Vascular Surgery, March 2022

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    Lived experiences of people with or at risk for aortic dissection: A qualitative assessment

    Authors: Jenney R. Lee, Courtney Segal, Jake Howitt, Melanie Case, Novelett Cotter, Timo Sunderland, Debra Trotter, Sarah O. Lawrence, Sherene Shalhub

    Journal: Seminars in Vascular Surgery, March 2022

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    Stakeholder perspectives on education in aortic dissection

    Authors: Stephanie D. Talutis, Jacob Watson, Earl Goldsborough III, Eileen Masciale, Karen Woo, Aortic Dissection Collaborative

    Journal: Seminars in Vascular Surgery, March 2022

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    Aortic dissection in pregnancy and the postpartum period

    Authors: Melissa Russo, Mattie Boehler-Tatman, Catherine Albright, Carmen David, L'Oreal Kennedy, Aaron W. Roberts, Sherene Shalhub, Rana Afifi, Aortic Dissesction Collaborative

    Journal: Seminars in Vascular Surgery, March 2022

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    Current state and future directions of genomics medicine in aortic dissection: A path to prevention and personalized care

    Authors: Alana C. Cecchi, Madeline Drake, Crisanne Campos, Jake Howitt, Jonathan Medina, Scott M. Damrauer, Sherene Shalhub, Dianna M. Milewicz, Aortic Dissection Collaborative

    Journal: Seminars in Vascular Surgery, March 2022

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    Knowledge gaps in surgical management for aortic dissection

    Authors: Akiko Tanaka, Avery M. Hebert, Akili Smith-Washington, Tabea Hoffstaetter, Richard Goldenberg, Sreekanth Vemulapalli, Lourdes del Rio-Sola, George J. Arnaoutakis, Firas Mussa, Takeyoshi Ota, Aortic Dissection Collaborative

    Journal: Seminars in Vascular Surgery, March 2022

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  • Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility

    Authors: Andrea M. Murad, Hannah L. Hill, Yu Wang,Michael Ghannam, Min-Lee Yang, Norma L. Pugh, Federico M. Asch, Whitney Hornsby, Anisa Driscoll, Jennifer McNamara, Cristen J. Willer, Ellen S. Regalado, GenTAC Investigators, Montalcino Aortic Consortium Investigators, Dianna M. Milewicz,Kim A. Eagle, Santhi K. Ganesh

    Journal: American Journal of Medical Genetics, 2022

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  • Characterization of syndromic, non-syndromic familial, and sporadic Type B Aortic Dissection

    Authors: Sherene Shalhub, MD, MPH, Jasmine Y. Rah, BA, Rebecca Campbell, BS, Matthew P. Sweet, MD, MS, Elina Quiroga, MD, Benjamin W. Starnes, MD, FACS

    Journal: Journal of Vascular Surgery

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    Influenza infection and aortic dissection: A commentary on the association between a viral syndrome and major cardiac events in the context of the current COVID-19 pandemic

    Authors: Ashur C, Conlon A, Eagle K, Hofmann Bowman M

    Journal: Journal of Allergy and Infectious Diseases

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  • Open thoracoabdominal aortic repair in patients with heritable aortic disease in the GenTAC Registry.

    Authors: Frankel WC, Song HK, Milewski RK, Shalhub S, Pugh NL, Roman MJ, Pyeritz RE, Maslen CL, Ravekes WJ, Milewicz DM, Coselli JS, LeMaire SA.

    Journal: Ann Thorac Surg 2019 (in press).

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    Surgical repair of bicuspid aortopathy at small diameters: Clinical and institutional factors.

    Authors: Nissen AP, Thanh Truong VT, Alhafez BA, Puthumana JJ, Estrera AL, Body SC, Prakash SK; BAVCon Investigators; GenTAC Registry Investigators.

    Journal: J Thorac Cardiovasc Surg. 2019 Aug 22. pii: S0022-5223(19)31583-1. doi10.1016/j.jtcvs.2019.06.103. [Epub ahead of print] PubMed PMID: 31543305.

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    Type B Aortic dissection in young individuals with confirmed and presumed heritable thoracic aortic disease.

    Authors: Shalhub S, Roman MJ, Eagle KA, LeMaire SA, Zhang Q, Evangelista A, Milewicz DM, the GenTAC Investigators.

    Journal: Ann Thorac Surg 2019 (in press).

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    Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome

    Authors: Shalhub S, et al.

    Journal: Am J Med Genet A. 2019

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    Circulating interleukin-6 (IL-6) levels are associated with aortic dimensions in genetic aortic conditions.

    Authors: Fujita D, Presiss L, Aizawa K, Asch FM, Eagle K, Suzuki T, on behalf of the GenTAC registry investigators.

    Journal: PLOS ONE 2019 (in press).

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    The natural history of type B aortic dissection in patients with PRKG1 mutation c.530G>A (p.Arg177Gln)

    Authors: Shalhub, Sherene, Regalado, Ellen S, Guo, Dong-Chuan, Milewicz, Dianna M, Montalcino Aortic Consortium

    Journal: Journal of Vascular Surgery, 2019

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    Acute aortic dissections with entry tear in the arch: A report from the International Registry of Acute Aortic Dissection

    Authors: Trimarchi & de Beaufort et al.

    Journal: J of Thoracic and Cardiovascular Surgery. 2019 Jan;157(1):74

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  • TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome

    Authors: Corbitt & Morris et al

    Journal: PLoS Genetics. 2018 Oct 3;14(10)

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    Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection

    Authors: Guo & Hostetler et al

    Journal: J Am Coll Cardiol. 2017 Nov 28; 70(21): 2728-2730.

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    Endovascular thoracic aortic repair in confirmed or suspected genetically triggered thoracic aortic dissection

    Authors: Shalhub et al.

    Journal: Vasc Surg. 2018 Aug;68(2):364-371.

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    Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) Consortium. Endovascular thoracic aortic repair in confirmed or suspected genetically triggered thoracic aortic disease.

    Authors: Shalhub S, Eagle KA, Asch FM, LeMaire SA, Milewicz DM, and Genetic Investigators for the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) Consortium.

    Journal: Vasc Surg 2018;68:634-71.

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  • Bicuspid and unicuspid aortic valves: Different phenotypes of the same disease? Insight from the GenTAC Registry

    Authors: Krepp & Roman et al.

    Journal: Congenit Heart Dis. 2017 Dec;12(6):740-745.

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    Aortic Dilatation Associated With Bicuspid Aortic Valve: Relation to Sex, Hemodynamics, and Valve Morphology (the National Heart Lung and Blood Institute-Sponsored National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions).

    Authors: Roman & Pugh et al.

    Journal: Am J Cardiol. 2017 Oct 1;120(7):1171-1175.

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    Associations of Age and Sex With Marfan Phenotype: The National Heart, Lung, and Blood Institute GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Registry

    Authors: Roman MJ, Devereux RB et al.

    Journal: Circ Cardiovasc Genet. 2017 Jun;10(3).

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    Marfan Syndrome and Quality of Life in the GenTAC Registry

    Authors: Goldfinger & Preiss et al.

    Journal: J Am Coll Cardiol. 2017 Jun 13;69(23):2821-2830.

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    Turner syndrome-specific and general population Z-scores are equivalent for most adults with Turner syndrome.

    Authors: Prakash & GenTAC Registry Investigators et al.

    Journal: Am J Med Genet A. 2017 Apr;173(4):1094-1096.

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    Chronobiology of Acute Aortic Dissection in the Marfan Syndrome (from the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions and the International Registry of Acute Aortic Dissection).

    Authors: Siddiqi & Luminais et al.

    Journal: Am J Cardiol. 2017 Mar 1;119(5):785-789.

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  • Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry.

    Authors: Prakash & Bondy et al.

    Journal: Am J Med Genet A. 2016 Dec;170(12):3157-3164.

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    Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) registry predicting predictors for aortic dissection: a new thought around the corner?

    Authors: Murana & Pantaleo et al.

    Journal: J Thorac Dis. 2016 Sep;8(9):E1093-E1095.

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    Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections

    Authors: Guo & Grove et al.

    Journal: Am J Hum Genet. 2016 Sep 1;99(3):762-769.

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    Aortic Complications Associated With Pregnancy in Marfan Syndrome: The NHLBI National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC)

    Authors: Roman & Pugh et al.

    Journal: J Am Heart Assoc. 2016 Aug 11;5(8). pii: e004052.

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    Aortic Dissection in Patients With Genetically Mediated Aneurysms: Incidence and Predictors in the GenTAC Registry

    Authors: Weinsaft & Devereux et al.

    Journal: J Am Coll Cardiol. 2016 Jun 14;67(23):2744-2754.

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    Recurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and Dissections

    Authors: Prakash & Kuang et al.

    Journal: PLoS One. 2016 Apr 19;11(4):e0153543.

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    The need for standardized methods for measuring the aorta: Multimodality Core lab Experience from the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC)

    Authors: Asch & Yuriditsky et al.

    Journal: JACC Cardiovasc Imaging. 2016 Mar;9(3):219-26.

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  • A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan Syndrome

    Authors: Doyle & Doyle, et al.

    Journal: eLife, 2015, v.4

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    MAT2A mutations predispose individuals to thoracic aortic aneurysms

    Authors: Guo & Gong et al.

    Journal: Am J Hum Genet. 2015 Jan 8;96(1):170-7.

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  • Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome

    Authors: Cook & Carta et al.

    Journal: J Clin Invest. 2014 Mar;124(3):1329-39.

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    Single Nucleotide Polymorphism Array Genotyping is Equivalent to Metaphase Cytogenetics for Diagnosis of Turner Syndrome

    Authors: Prakash & Guo et al.

    Journal: Genet Med. 2014 Jan;16(1):53-9.

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  • Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.

    Authors: Guo & Regalado et al.

    Journal: Am J Hum Genet. 2013 Aug 8;93(2):398-404.

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    GenTAC registry report: gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection

    Authors: Holmes & Maslen et al.

    Journal: Am J Med Genet A. 2013 Apr;161A(4):779-86

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  • The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC): results from phase I and scientific opportunities in phase II.

    Authors: Kroner & Tolunay et al.

    Journal: Am Heart J. 2011 Oct;162(4):627-632.e1.

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    Impact of image analysis methodology on diagnostic and surgical classification of patients with thoracic aortic aneurysms

    Authors: Mendoza & Kochar et al.

    Journal: Ann Thorac Surg. 2011 Sep;92(3):904-12.

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    Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections

    Authors: Kuang & Guo et al.

    Journal: PLoS Genet. 2011 Jun;7(6):e1002118.

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  • Surgical treatment of patients enrolled in the national registry of genetically triggered thoracic aortic conditions

    Authors: Song & Bavaria et al.

    Journal: Ann Thorac Surg. 2009 Sep;88(3):781-7; discussion 787-8.

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    Circulating transforming growth factor-beta in Marfan syndrome.

    Authors: Matt & Schoenhoff et al.

    Journal: Circulation. 2009 Aug 11;120(6):526-32.

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

    Authors: Eagle & GenTAC Consortium

    Journal: Am Heart J. 2009 Feb;157(2):319-26.

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