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Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

MedGen UID:
833666
•Concept ID:
CN229799
•
Disease or Syndrome

Professional guidelines

PubMed

2022 ACC/AHA guideline for the diagnosis and management of aortic disease: A report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
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
2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
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
2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
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

HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN.
Caruana M, Baars MJ, Bashiardes E, Benke K, Björck E, Codreanu A, de Moya Rubio E, Dumfarth J, Evangelista A, Groenink M, Kallenbach K, Kempers M, Keravnou A, Loeys B, Muiño-Mosquera L, Nagy E, Milleron O, Nistri S, Pepe G, Roos-Hesselink J, Szabolcs Z, Teixidó-Tura G, Timmermans J, Van de Laar I, van Kimmenade R, Verstraeten A, Von Kodolitsch Y, De Backer J, Jondeau G
Eur J Med Genet 2023 Jan;66(1):104673. Epub 2022 Nov 29 doi: 10.1016/j.ejmg.2022.104673. PMID: 36460281
Thoracic Aortic Aneurysm: A Clinical Review.
Senser EM, Misra S, Henkin S
Cardiol Clin 2021 Nov;39(4):505-515. doi: 10.1016/j.ccl.2021.06.003. PMID: 34686263
Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection.
Braverman AC, Mittauer E, Harris KM, Evangelista A, Pyeritz RE, Brinster D, Conklin L, Suzuki T, Fanola C, Ouzounian M, Chen E, Myrmel T, Bekeredjian R, Hutchison S, Coselli J, Gilon D, O'Gara P, Davis M, Isselbacher E, Eagle K
JAMA Cardiol 2021 Jan 1;6(1):58-66. doi: 10.1001/jamacardio.2020.4876. PMID: 33052376Free PMC Article
Pregnancy and Thoracic Aortic Disease: Managing the Risks.
Wanga S, Silversides C, Dore A, de Waard V, Mulder B
Can J Cardiol 2016 Jan;32(1):78-85. Epub 2015 Sep 18 doi: 10.1016/j.cjca.2015.09.003. PMID: 26604124
The Loeys-Dietz syndrome: an update for the clinician.
Van Hemelrijk C, Renard M, Loeys B
Curr Opin Cardiol 2010 Nov;25(6):546-51. doi: 10.1097/HCO.0b013e32833f0220. PMID: 20838339

Diagnosis

2022 ACC/AHA guideline for the diagnosis and management of aortic disease: A report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
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
2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
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
2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
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
Loeys-Dietz Syndrome.
Velchev JD, Van Laer L, Luyckx I, Dietz H, Loeys B
Adv Exp Med Biol 2021;1348:251-264. doi: 10.1007/978-3-030-80614-9_11. PMID: 34807423
Thoracic Aortic Aneurysm: A Clinical Review.
Senser EM, Misra S, Henkin S
Cardiol Clin 2021 Nov;39(4):505-515. doi: 10.1016/j.ccl.2021.06.003. PMID: 34686263

Therapy

A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.
Leutermann R, Sheikhzadeh S, Brockstädt L, Rybczynski M, van Rahden V, Kutsche K, von Kodolitsch Y, Rosenberger G
Eur J Hum Genet 2014 Jul;22(7):944-8. Epub 2013 Nov 6 doi: 10.1038/ejhg.2013.252. PMID: 24193348Free PMC Article
Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy.
Lacro RV, Guey LT, Dietz HC, Pearson GD, Yetman AT, Gelb BD, Loeys BL, Benson DW, Bradley TJ, De Backer J, Forbus GA, Klein GL, Lai WW, Levine JC, Lewin MB, Markham LW, Paridon SM, Pierpont ME, Radojewski E, Selamet Tierney ES, Sharkey AM, Wechsler SB, Mahony L; Pediatric Heart Network Investigators
Am Heart J 2013 May;165(5):828-835.e3. Epub 2013 Mar 26 doi: 10.1016/j.ahj.2013.02.019. PMID: 23622922Free PMC Article
Are we ignoring the dilated thoracic aorta?
Castellano JM, Kovacic JC, Sanz J, Fuster V
Ann N Y Acad Sci 2012 Apr;1254:164-174. doi: 10.1111/j.1749-6632.2012.06493.x. PMID: 22548582

Prognosis

Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.
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
Thoracic Aortic Aneurysm: A Clinical Review.
Senser EM, Misra S, Henkin S
Cardiol Clin 2021 Nov;39(4):505-515. doi: 10.1016/j.ccl.2021.06.003. PMID: 34686263
Oxidative stress in genetically triggered thoracic aortic aneurysm: role in pathogenesis and therapeutic opportunities.
Portelli SS, Hambly BD, Jeremy RW, Robertson EN
Redox Rep 2021 Dec;26(1):45-52. doi: 10.1080/13510002.2021.1899473. PMID: 33715602Free PMC Article
Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection.
Braverman AC, Mittauer E, Harris KM, Evangelista A, Pyeritz RE, Brinster D, Conklin L, Suzuki T, Fanola C, Ouzounian M, Chen E, Myrmel T, Bekeredjian R, Hutchison S, Coselli J, Gilon D, O'Gara P, Davis M, Isselbacher E, Eagle K
JAMA Cardiol 2021 Jan 1;6(1):58-66. doi: 10.1001/jamacardio.2020.4876. PMID: 33052376Free PMC Article
The Loeys-Dietz syndrome: an update for the clinician.
Van Hemelrijk C, Renard M, Loeys B
Curr Opin Cardiol 2010 Nov;25(6):546-51. doi: 10.1097/HCO.0b013e32833f0220. PMID: 20838339

Clinical prediction guides

HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN.
Caruana M, Baars MJ, Bashiardes E, Benke K, Björck E, Codreanu A, de Moya Rubio E, Dumfarth J, Evangelista A, Groenink M, Kallenbach K, Kempers M, Keravnou A, Loeys B, Muiño-Mosquera L, Nagy E, Milleron O, Nistri S, Pepe G, Roos-Hesselink J, Szabolcs Z, Teixidó-Tura G, Timmermans J, Van de Laar I, van Kimmenade R, Verstraeten A, Von Kodolitsch Y, De Backer J, Jondeau G
Eur J Med Genet 2023 Jan;66(1):104673. Epub 2022 Nov 29 doi: 10.1016/j.ejmg.2022.104673. PMID: 36460281
Thoracic Aortic Aneurysm: A Clinical Review.
Senser EM, Misra S, Henkin S
Cardiol Clin 2021 Nov;39(4):505-515. doi: 10.1016/j.ccl.2021.06.003. PMID: 34686263
Oxidative stress in genetically triggered thoracic aortic aneurysm: role in pathogenesis and therapeutic opportunities.
Portelli SS, Hambly BD, Jeremy RW, Robertson EN
Redox Rep 2021 Dec;26(1):45-52. doi: 10.1080/13510002.2021.1899473. PMID: 33715602Free PMC Article
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.
Bertoli-Avella AM, Gillis E, Morisaki H, Verhagen JMA, de Graaf BM, van de Beek G, Gallo E, Kruithof BPT, Venselaar H, Myers LA, Laga S, Doyle AJ, Oswald G, van Cappellen GWA, Yamanaka I, van der Helm RM, Beverloo B, de Klein A, Pardo L, Lammens M, Evers C, Devriendt K, Dumoulein M, Timmermans J, Bruggenwirth HT, Verheijen F, Rodrigus I, Baynam G, Kempers M, Saenen J, Van Craenenbroeck EM, Minatoya K, Matsukawa R, Tsukube T, Kubo N, Hofstra R, Goumans MJ, Bekkers JA, Roos-Hesselink JW, van de Laar IMBH, Dietz HC, Van Laer L, Morisaki T, Wessels MW, Loeys BL
J Am Coll Cardiol 2015 Apr 7;65(13):1324-1336. doi: 10.1016/j.jacc.2015.01.040. PMID: 25835445Free PMC Article
The paradoxical TGF-β vasculopathies.
Akhurst RJ
Nat Genet 2012 Jul 27;44(8):838-9. doi: 10.1038/ng.2366. PMID: 22836090Free PMC Article

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