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Heritable Thoracic Aortic Disease

MedGen UID:
1508193
Concept ID:
CN868256
Disease or Syndrome

Professional guidelines

PubMed

Writing Committee Members, Isselbacher EM, Preventza O, Hamilton Black J 3rd, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A Jr, Fanola CL, Girardi LN, Hicks CW, Hui DS, Schuyler Jones W, Kalahasti V, Kim KM, Milewicz DM, Oderich GS, Ogbechie L, Promes SB, Ross EG, Schermerhorn ML, Singleton Times S, Tseng EE, Wang GJ, Woo YJ; Peer Review Committee Members, Faxon DP, Upchurch GR Jr, Aday AW, Azizzadeh A, Boisen M, Hawkins B, Kramer CM, Luc JGY, MacGillivray TE, Malaisrie SC, Osteen K, Patel HJ, Patel PJ, Popescu WM, Rodriguez E, Sorber R, Tsao PS, Santos Volgman A; AHA/ACC Joint Committee Members, Beckman JA, Otto CM, O'Gara PT, Armbruster A, Birtcher KK, de las Fuentes L, Deswal A, Dixon DL, Gorenek B, Haynes N, Hernandez AF, Joglar JA, Jones WS, Mark D, Mukherjee D, Palaniappan L, Piano MR, Rab T, Spatz ES, Tamis-Holland JE, Woo YJ
J Thorac Cardiovasc Surg 2023 Nov;166(5):e182-e331. Epub 2023 Jun 28 doi: 10.1016/j.jtcvs.2023.04.023. PMID: 37389507Free PMC Article
Writing Committee Members, Isselbacher EM, Preventza O, Hamilton Black Iii J, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A Jr, Fanola CL, Girardi LN, Hicks CW, Hui DS, Jones WS, Kalahasti V, Kim KM, Milewicz DM, Oderich GS, Ogbechie L, Promes SB, Ross EG, Schermerhorn ML, Times SS, Tseng EE, Wang GJ, Woo YJ
J Am Coll Cardiol 2022 Dec 13;80(24):e223-e393. Epub 2022 Nov 2 doi: 10.1016/j.jacc.2022.08.004. PMID: 36334952Free PMC Article
Isselbacher EM, Preventza O, Hamilton Black J 3rd, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A Jr, Fanola CL, Girardi LN, Hicks CW, Hui DS, Schuyler Jones W, Kalahasti V, Kim KM, Milewicz DM, Oderich GS, Ogbechie L, Promes SB, Gyang Ross E, Schermerhorn ML, Singleton Times S, Tseng EE, Wang GJ, Woo YJ; Peer Review Committee Members
Circulation 2022 Dec 13;146(24):e334-e482. Epub 2022 Nov 2 doi: 10.1161/CIR.0000000000001106. PMID: 36322642Free PMC Article

Recent clinical studies

Etiology

Tijmes FS, Karur GR
Semin Roentgenol 2022 Oct;57(4):364-379. Epub 2022 Aug 16 doi: 10.1053/j.ro.2022.07.004. PMID: 36265988
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
Milewicz DM, Braverman AC, De Backer J, Morris SA, Boileau C, Maumenee IH, Jondeau G, Evangelista A, Pyeritz RE
Nat Rev Dis Primers 2021 Sep 2;7(1):64. doi: 10.1038/s41572-021-00298-7. PMID: 34475413Free PMC Article
Demo E, Rigelsky C, Rideout AL, Graf M, Pariani M, Regalado E, MacCarrick G
Med Clin North Am 2019 Nov;103(6):1005-1019. Epub 2019 Aug 31 doi: 10.1016/j.mcna.2019.08.001. PMID: 31582001
Milewicz DM, Regalado ES
J Thorac Cardiovasc Surg 2015 Feb;149(2 Suppl):S3-5. Epub 2014 Aug 5 doi: 10.1016/j.jtcvs.2014.07.070. PMID: 25218541Free PMC Article

Diagnosis

Writing Committee Members, Isselbacher EM, Preventza O, Hamilton Black J 3rd, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A Jr, Fanola CL, Girardi LN, Hicks CW, Hui DS, Schuyler Jones W, Kalahasti V, Kim KM, Milewicz DM, Oderich GS, Ogbechie L, Promes SB, Ross EG, Schermerhorn ML, Singleton Times S, Tseng EE, Wang GJ, Woo YJ; Peer Review Committee Members, Faxon DP, Upchurch GR Jr, Aday AW, Azizzadeh A, Boisen M, Hawkins B, Kramer CM, Luc JGY, MacGillivray TE, Malaisrie SC, Osteen K, Patel HJ, Patel PJ, Popescu WM, Rodriguez E, Sorber R, Tsao PS, Santos Volgman A; AHA/ACC Joint Committee Members, Beckman JA, Otto CM, O'Gara PT, Armbruster A, Birtcher KK, de las Fuentes L, Deswal A, Dixon DL, Gorenek B, Haynes N, Hernandez AF, Joglar JA, Jones WS, Mark D, Mukherjee D, Palaniappan L, Piano MR, Rab T, Spatz ES, Tamis-Holland JE, Woo YJ
J Thorac Cardiovasc Surg 2023 Nov;166(5):e182-e331. Epub 2023 Jun 28 doi: 10.1016/j.jtcvs.2023.04.023. PMID: 37389507Free PMC Article
Writing Committee Members, Isselbacher EM, Preventza O, Hamilton Black Iii J, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A Jr, Fanola CL, Girardi LN, Hicks CW, Hui DS, Jones WS, Kalahasti V, Kim KM, Milewicz DM, Oderich GS, Ogbechie L, Promes SB, Ross EG, Schermerhorn ML, Times SS, Tseng EE, Wang GJ, Woo YJ
J Am Coll Cardiol 2022 Dec 13;80(24):e223-e393. Epub 2022 Nov 2 doi: 10.1016/j.jacc.2022.08.004. PMID: 36334952Free PMC Article
Isselbacher EM, Preventza O, Hamilton Black J 3rd, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A Jr, Fanola CL, Girardi LN, Hicks CW, Hui DS, Schuyler Jones W, Kalahasti V, Kim KM, Milewicz DM, Oderich GS, Ogbechie L, Promes SB, Gyang Ross E, Schermerhorn ML, Singleton Times S, Tseng EE, Wang GJ, Woo YJ; Peer Review Committee Members
Circulation 2022 Dec 13;146(24):e334-e482. Epub 2022 Nov 2 doi: 10.1161/CIR.0000000000001106. PMID: 36322642Free PMC Article
Milewicz DM, Braverman AC, De Backer J, Morris SA, Boileau C, Maumenee IH, Jondeau G, Evangelista A, Pyeritz RE
Nat Rev Dis Primers 2021 Sep 2;7(1):64. doi: 10.1038/s41572-021-00298-7. PMID: 34475413Free PMC Article
Demo E, Rigelsky C, Rideout AL, Graf M, Pariani M, Regalado E, MacCarrick G
Med Clin North Am 2019 Nov;103(6):1005-1019. Epub 2019 Aug 31 doi: 10.1016/j.mcna.2019.08.001. PMID: 31582001

Therapy

Gomez-Mayorga JL, Yadavalli SD, Allievi S, Wang SX, Rastogi V, Straus S, Mandigers TJ, Black JH, Zettervall SL, Schermerhorn ML
J Vasc Surg 2024 Oct;80(4):1015-1024.e7. Epub 2024 May 8 doi: 10.1016/j.jvs.2024.05.002. PMID: 38729586
Rebello KR, Green SY, Etheridge GM, Zhang Q, Glover VA, Zea-Vera R, Moon MR, LeMaire SA, Coselli JS
Ann Thorac Surg 2024 Feb;117(2):328-335. Epub 2023 Oct 21 doi: 10.1016/j.athoracsur.2023.10.012. PMID: 37866646
Steinmetz LM, Coselli JS
Ann Vasc Surg 2023 Aug;94:1-7. Epub 2022 May 17 doi: 10.1016/j.avsg.2022.04.049. PMID: 35595210
Solomon JR, Braverman AC, Ohman JW
Ann Vasc Surg 2022 Nov;87:124-139. Epub 2022 Jun 9 doi: 10.1016/j.avsg.2022.05.026. PMID: 35691461
Çekmecelioglu D, Orozco-Sevilla V, Coselli JS
Asian Cardiovasc Thorac Ann 2021 Sep;29(7):643-653. Epub 2020 Aug 9 doi: 10.1177/0218492320949073. PMID: 32772547

Prognosis

Yagyu T, Noguchi T, Asano Y, Ida K, Ogata S, Nishimura K, Matsuda H
J Am Heart Assoc 2023 Apr 18;12(8):e028625. Epub 2023 Apr 12 doi: 10.1161/JAHA.122.028625. PMID: 37042257Free PMC Article
Shalhub S, Roman MJ, Eagle KA, LeMaire SA, Zhang Q, Evangelista A, Milewicz DM; Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) Consortium
Ann Thorac Surg 2020 Feb;109(2):534-540. Epub 2019 Jul 31 doi: 10.1016/j.athoracsur.2019.07.004. PMID: 31376376
De Backer J, Renard M, Campens L, Mosquera LM, De Paepe A, Coucke P, Callewaert B, Kodolitsch Yv
Curr Pharm Des 2015;21(28):4061-75. doi: 10.2174/1381612821666150826093152. PMID: 26306841
Milewicz DM, Regalado ES
J Thorac Cardiovasc Surg 2015 Feb;149(2 Suppl):S3-5. Epub 2014 Aug 5 doi: 10.1016/j.jtcvs.2014.07.070. PMID: 25218541Free PMC Article
von Kodolitsch Y, Rybczynski M, Bernhardt A, Mir TS, Treede H, Dodge-Khatami A, Robinson PN, Sheikhzadeh S, Reichenspurner H, Meinertz T
Vasa 2010 Feb;39(1):17-32. doi: 10.1024/0301-1526/a000002. PMID: 20186673

Clinical prediction guides

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. Epub 2024 Oct 18 doi: 10.1161/JAHA.124.036274. PMID: 39424426
Buja LM, Zhao B, Sadaf H, McDonald M, Segura AM, Li L, Cecchi A, Prakash SK, Afifi RO, Miller CC, Estrera AL, Milewicz DM
Tex Heart Inst J 2024 Feb 12;51(1) doi: 10.14503/THIJ-23-8253. PMID: 38345902Free PMC Article
Rebello KR, Green SY, Etheridge GM, Zhang Q, Glover VA, Zea-Vera R, Moon MR, LeMaire SA, Coselli JS
Ann Thorac Surg 2024 Feb;117(2):328-335. Epub 2023 Oct 21 doi: 10.1016/j.athoracsur.2023.10.012. PMID: 37866646
Guo DC, Regalado ES, Pinard A, Chen J, Lee K, Rigelsky C, Zilberberg L, Hostetler EM, Aldred M, Wallace SE, Prakash SK; University of Washington Center for Mendelian Genomics, Leal SM, Bamshad MJ, Nickerson DA, Natowicz M, Rifkin DB, Milewicz DM
Am J Hum Genet 2018 Apr 5;102(4):706-712. doi: 10.1016/j.ajhg.2018.03.002. PMID: 29625025Free PMC Article
Milewicz DM, Regalado ES
J Thorac Cardiovasc Surg 2015 Feb;149(2 Suppl):S3-5. Epub 2014 Aug 5 doi: 10.1016/j.jtcvs.2014.07.070. PMID: 25218541Free PMC Article

Recent systematic reviews

Firwana M, Hasan B, Saadi S, Abd-Rabu R, Alabdallah K, Al-Zu'bi H, Shalhub S, Black JH 3rd, Prokop LJ, Murad MH
J Vasc Surg 2023 Oct;78(4):1077-1082.e12. Epub 2023 Jun 15 doi: 10.1016/j.jvs.2023.06.004. PMID: 37327953
Velvin G, Johansen H, Østertun-Geirdal A, Bathen T
Orphanet J Rare Dis 2023 May 19;18(1):119. doi: 10.1186/s13023-023-02709-2. PMID: 37208760Free PMC Article
von Kodolitsch Y, Rybczynski M, Bernhardt A, Mir TS, Treede H, Dodge-Khatami A, Robinson PN, Sheikhzadeh S, Reichenspurner H, Meinertz T
Vasa 2010 Feb;39(1):17-32. doi: 10.1024/0301-1526/a000002. PMID: 20186673

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