Publications
- Research & Registry
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- Publications
ACTA2 Pathogenic Variants Activating Heat Shock Factor 1 and Increasing Cholesterol Biosynthesis in Smooth Muscle Cells Predispose to Early Onset Atherosclerosis.
Boerio ML, Chattopadhyay A, Duan XY, Karla A, Calderon Martinez E, Pinard A, Morse AK, Reddy D, Dharma S, Velasco-Torrez W, Marcadier J, Prakash SK, Shalhub S, De Backer J, Jeremy R, Morris SA, Yetman AT, Braverman AC, Milewicz DM. ACTA2 Circ Genom Precis Med. 2026 Feb;19(1):e005169. Epub 2026 Jan 26. PMID: 41582817
PRKG1 pathogenic variants cause thoracic aortic dissection with minimal aortic dilation: Insights from the UTHealth Houston multidisciplinary aortic and vascular disease conference.
Askari A, Landes JR, Cecchi A, Duran C, Zhao B, Oderich GS, Buja LM, Milewicz DM, Estrera AL, Afifi RO, Prakash SK. J Vasc Surg Cases Innov Tech. 2025 Dec 6;12(2):102088. doi: 10.1016/j.jvscit.2025.102088. PMID: 41550994.
Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium.
Lim MS, Guo DC, Velasco Torrez W, Lai A, Schweber J, Garg N, Fleischer J, Boileau C, De Backer J, Evangelista A, Jondeau G, Le Goff C, Milleron O, Muiño-Mosquera L, Morris S, Ouzounian M, Cervi E, Marcadier J, Caffarelli A, Shalhub S, Pyeritz R, Yetman A, Milewicz D, Braverman AC. J Med Genet. 2025 Jan 27;62(2):82-88. doi: 10.1136/jmg-2024-110251. PMID: 39653386.
Bicuspid Aortic Valve in Heritable Thoracic Aortic Disease: Insights from the Montalcino Aortic Consortium
Asokan KL, Muraly N, Guo D, Shah DM, Martinez EC, Cervi E, De Backer J, Mosquera LM, Renders W, Braverman AC, Lim M, Ouzonian M, Jeremy RW, Morris SA, Volguina IV, Niaz T, Yetman AT, Jantzen DW, Teixido-Tura G, Evangelista A, Jondeau G, Milleron O, Milewicz DM, Prakash SK. medRxiv [Preprint]. 2025 Nov 30:2025.11.26.25341124. doi: 10.1101/2025.11.26.253411 PMID: 41358318.
Differences in Arterial Events in Vascular Ehlers-Danlos, Loeys-Dietz, and Marfan Syndrome
Calderon-Martinez E, Velasco WV, Guo D, Hostetler EH, Xun Z, Stephens S, Shalhub S, De Backer J, Ouzounian M, LeMaire SA, Milleron O, Hanna N, Arnaud P, Tchitchinadze M, Prakash SK, Lindsay M, Marcadier J, Jeremy R, Morris SA, Yetman AT, Boileau C, Braverman AC, Jondeau G, Milewicz DM. J Am Coll Cardiol. 2025 Jun 24;85(24):2355-2367. doi: 10.1016/j.jacc.2025.04.023. PMID: 40533124
Early diagnosis of vascular Ehlers-Danlos syndrome through AI-powered facial analysis: Results from the Montalcino Aortic Consortium
Murdock DR, Suresh A, Calderon Martinez E, Marin I, Marin F, Braverman AC, Yetman AT, Morris SA, Milewicz DM. Genet Med Open. 2025 May 9;3:103434. doi: 10.1016/j.gimo.2025.103434. PMID: 40575353.
Varied Presentations of Arterial Events in Vascular Ehlers-Danlos Syndrome
Jaiswal M, Mansoorshahi S, Zachariah S, Macedo T, Cecchi AC, Zhao B, Buja LM, Milewicz DM, Oderich GS, Afifi RO, Tanaka A, Estrera AL, Arain SA, Prakash SK.JACC Case Rep. 2025 Oct 15;30(32):105424. doi: 10.1016/j.jaccas.2025.105424. Epub 2025 Sep 12. PMID: 4093824388.
Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium
Asokan KL, Landes JR, Renders W, Muiño Mosquera L, De Backer J, Jantzen DW, Yetman AT, Teixido-Tura G, Evangelista A, Jeremy R, Jones EG, Morris S, Doan T, Ouzonian M, Braverman A, Jondeau G, Milleron O, Milewicz DM, Prakash SK; Montalcino Aortic Consortium. J Am Heart Assoc. 2024 Nov 5;13(21):e036274. doi: 10.1161/JAHA.124.036274. Epub 2024 Oct 18. PMID: 39424426.
Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease
Regalado ES, Morris SA, Braverman AC, Hostetler EM, De Backer J, Li R, Pyeritz RE, Yetman AT, Cervi E, Shalhub S, Jeremy R, LeMaire S, Ouzounian M, Evangelista A, Boileau C, Jondeau G, Milewicz DM. J Am Coll Cardiol. 2022 Aug 30;80(9):857-869. doi: 10.1016/j.jacc.2022.05.054. PMID: 36007983.
Expanding ACTA2 Genotypes with Corresponding Phenotypes Overlapping with Smooth Muscle Dysfunction Syndrome
Kaw A, Kaw K, Hostetler EM, Beleza-Meireles A, Smith-Collins A, Armstrong C, Scurr I, Cotts T, Aatre R, Bamshad MJ, Earl D, Groner A, Agre K, Raveh Y, Kwartler CS, Milewicz DM. Am J Med Genet A. 2022 Aug;188(8):2389-2396. doi: 10.1002/ajmg.a.62775. Epub 2022 May 14. PMID: 35567597.
Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility
Murad AM, Hill HL, Wang Y, Ghannam M, Yang ML, Pugh NL, Asch FM, Hornsby W, Driscoll A, McNamara J, Willer CJ, Regalado ES; GenTAC Investigators; Montalcino Aortic Consortium Investigators; Milewicz DM, Eagle KA, Ganesh SK. Am J Med Genet A. 2022 May;188(5):1448-1456. doi: 10.1002/ajmg.a.62661. Epub 2022 Jan 29. PMID: 35092149.
Cerebrovascular Disease Progression in Patients With ACTA2 Arg179 Pathogenic Variants
Lauer A, Speroni SL, Patel JB, Regalado E, Choi M, Smith E, Kalpathy-Kramer J, Caruso P, Milewicz DM, Musolino PL. Neurology. 2021 Jan 26;96(4):e538-e552. doi: 10.1212/WNL.0000000000011210. Epub 2020 Nov 16. PMID: 33199432.
MYLK Mutations: Aortic Disease Presentation, Pregnancy Risk, and Characterization of Pathogenic Missense Variants
Wallace SE, Regalado ES, Gong L, Janda AL, Guo DC, Russo CF, Kulmacz RJ, Hanna N, Jondeau G, Boileau C, Arnaud P, Lee K, Leal SM, Hannuksela M, Carlberg B, Johnston T, Antolik C, Hostetler EM, Colombo R, Milewicz DM. Genet Med. 2019 Jan;21(1):144-151. doi: 10.1038/s41436-018-0038-0. Epub 2018 Jun 20. PMCID: PMC6400320.
SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium
Hostetler EM, Regalado ES, Guo DC, Hanna N, Arnaud P, Muiño-Mosquera L, Callewaert BL, Lee K, Leal SM, Wallace SE, Rideout AL, Dyack S, Aatre RD, Boileau C, De Backer J, Jondeau G, Milewicz DM. J Med Genet. 2019 Apr;56(4):252-260. doi: 10.1136/jmedgenet-2018-105583. Epub 2019 Jan 19. PMID: 30661052.
The natural history of type B aortic dissection in patients with PRKG1 mutation c.530G>A (p.Arg177Gln).
Shalhub S, Regalado ES, Guo DC, Milewicz DM; Montalcino Aortic Consortium. J Vasc Surg. 2019 Sep;70(3):718-723. doi: 10.1016/j.jvs.2018.12.032. Epub 2019 Mar 11. PMID: 30871887.
Clinical History and Management Recommendations of the Smooth Muscle Dysfunction Syndrome Due to ACTA2 Arginine 179 Alterations
Regalado ES, Mellor-Crummey L, De Backer J, Braverman AC, Ades L, Benedict S, Bradley TJ, Brickner ME, Chatfield KC, Child A, Feist C, Holmes KW, Iannucci G, Lorenz B, Mark P, Morisaki T, Morisaki H, Morris SA, Mitchell AL, Ostergaard JR, Richer J, Sallee D, Shalhub S, Tekin M; Montalcino Aortic Consortium; Estrera A, Musolino P, Yetman A, Pyeritz R, Milewicz DM. Genet Med. 2018 Oct;20(10):1206-1215. doi: 10.1038/gim.2017.245. Epub 2018 Jan 4. PMID: 29300374. PMID: 29300374.
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the Montalcino Aortic Consortium
Jondeau G, Ropers J, Regalado E, Braverman A, Evangelista A, Teixedo G, De Backer J, Muiño-Mosquera L, Naudion S, Zordan C, Morisaki T, Morisaki H, Von Kodolitsch Y, Dupuis-Girod S, Morris SA, Jeremy R, Odent S, Adès LC, Bakshi M, Holman K, LeMaire S, Milleron O, Langeois M, Spentchian M, Aubart M, Boileau C, Pyeritz R, Milewicz DM; Montalcino Aortic Consortium. Circ Cardiovasc Genet. 2016 Dec;9(6):548-558. doi: 10.1161/CIRCGENETICS.116.001485. Epub 2016 Nov 21. PMID: 27879313.
Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations
Regalado ES, Guo DC, Prakash S, Bensend TA, Flynn K, Estrera A, Safi H, Liang D, Hyland J, Child A, Arno G, Boileau C, Jondeau G, Braverman A, Moran R, Morisaki T, Morisaki H; Montalcino Aortic Consortium; Pyeritz R, Coselli J, LeMaire S, Milewicz DM. Circ Cardiovasc Genet. 2015 Jun;8(3):457-64. doi: 10.1161/CIRCGENETICS.114.000943. Epub 2015 Mar 10. PMID: 25759435; PMCID: PMC4601641. www.pubmed.ncbi.nlm.nih.gov/25759435/
MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms
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. Am J Hum Genet. 2015 Jan 8;96(1):170-7. doi: 10.1016/j.ajhg.2014.11.015. Epub 2014 Dec 31. PMID: 25557781; PMCID: PMC4289682. www.pmc.ncbi.nlm.nih.gov/articles/PMC4289682
Loeys-Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling.
Pyeritz R, Jondeau G, Moran R, De Backer J, Arbustini E, De Paepe A, Milewicz D. Genet Med. 2014 Aug;16(8):641-2. doi: 10.1038/gim.2014.63. PMID: 25093568.
Heritable Thoracic Aortic Disorders
Pyeritz RE. Curr Opin Cardiol. 2014 Jan;29(1):97-102. doi: 10.1097/HCO.0000000000000023. PMID: 24284977.