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Marfan syndrome, mild

MedGen UID:
864493
Concept ID:
C4016056
Finding
Synonym: MARFAN SYNDROME, MILD
 
OMIM®: 134797

Professional guidelines

PubMed

Connor BS, Algaze CA, Narkevičiūtė A, Anguiano B, Pariani M, Zarate YA, Collins RT
Am J Cardiol 2022 Jul 15;175:119-126. Epub 2022 May 9 doi: 10.1016/j.amjcard.2022.04.012. PMID: 35550817
Orozco-Sevilla V, Coselli JS
J Cardiovasc Surg (Torino) 2021 Aug;62(4):302-315. Epub 2021 Feb 10 doi: 10.23736/S0021-9509.21.11806-3. PMID: 33565747
Donkervoort S, Bonnemann CG, Loeys B, Jungbluth H, Voermans NC
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):23-42. doi: 10.1002/ajmg.c.31433. PMID: 25821091

Recent clinical studies

Etiology

Connor BS, Algaze CA, Narkevičiūtė A, Anguiano B, Pariani M, Zarate YA, Collins RT
Am J Cardiol 2022 Jul 15;175:119-126. Epub 2022 May 9 doi: 10.1016/j.amjcard.2022.04.012. PMID: 35550817
Muiño-Mosquera L, De Wilde H, Devos D, Babin D, Jordaens L, Demolder A, De Groote K, De Wolf D, De Backer J
Orphanet J Rare Dis 2020 Oct 23;15(1):300. doi: 10.1186/s13023-020-01581-8. PMID: 33097072Free PMC Article
Matsushima S, Heß A, Lämmerzahl JR, Karliova I, Giebels C, Schäfers HJ
Eur J Cardiothorac Surg 2020 Jun 1;57(6):1091-1097. doi: 10.1093/ejcts/ezz380. PMID: 31972004
Donkervoort S, Bonnemann CG, Loeys B, Jungbluth H, Voermans NC
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):23-42. doi: 10.1002/ajmg.c.31433. PMID: 25821091
Traill TA
Cardiol Clin 2012 Aug;30(3):369-81. Epub 2012 May 30 doi: 10.1016/j.ccl.2012.04.004. PMID: 22813363

Diagnosis

Li J, Zhu T, Yang S, Yang F, Wu J, Xiong F
Braz J Cardiovasc Surg 2021 Oct 17;36(5):700-702. doi: 10.21470/1678-9741-2020-0592. PMID: 34236823Free PMC Article
Kimura N, Inaba Y, Kameyama K, Shimizu H
Interact Cardiovasc Thorac Surg 2018 Jun 1;26(6):1039-1040. doi: 10.1093/icvts/ivy003. PMID: 29346558
Çebi Olgun D, Kantarci F
N Engl J Med 2015 Feb 26;372(9):e13. doi: 10.1056/NEJMicm1308550. PMID: 25714185
Vandersteen AM, Kenny J, Khan NL, Male A
BMJ Case Rep 2013 Mar 15;2013 doi: 10.1136/bcr-2012-008323. PMID: 23505274Free PMC Article
Kiotsekoglou A, Sutherland GR, Moggridge JC, Nassiri DK, Camm AJ, Child AH
Heart 2009 Oct;95(19):1561-6. Epub 2009 Feb 17 doi: 10.1136/hrt.2008.152934. PMID: 19224905

Therapy

David TE, David CM, Ouzounian M, Feindel CM, Lafreniere-Roula M
J Thorac Cardiovasc Surg 2021 Mar;161(3):890-899.e1. Epub 2020 Sep 5 doi: 10.1016/j.jtcvs.2020.07.121. PMID: 33008570
Samuelson TW
J Cataract Refract Surg 2020 Jan;46(1):154. doi: 10.1097/j.jcrs.0000000000000095. PMID: 32050248
David TE, Feindel CM, David CM, Manlhiot C
J Thorac Cardiovasc Surg 2014 Sep;148(3):872-9; discussion 879-80. Epub 2014 May 15 doi: 10.1016/j.jtcvs.2014.04.048. PMID: 24930611
Du Y, Zhang H, Feng X
J Thorac Cardiovasc Surg 2014 Jul;148(1):e137-9. Epub 2014 Mar 27 doi: 10.1016/j.jtcvs.2014.03.043. PMID: 24746991
Fucci C, Cicco GD, Chiari E, Nardi M, Faggiano P, Procopio R, Coletti G, Rambaldini M, Lorusso R
J Cardiovasc Med (Hagerstown) 2007 May;8(5):354-8. doi: 10.2459/01.JCM.0000268120.45303.cf. PMID: 17443102

Prognosis

Kimura N, Inaba Y, Kameyama K, Shimizu H
Interact Cardiovasc Thorac Surg 2018 Jun 1;26(6):1039-1040. doi: 10.1093/icvts/ivy003. PMID: 29346558
Speed TJ, Mathur VA, Hand M, Christensen B, Sponseller PD, Williams KA, Campbell CM
Am J Med Genet A 2017 Feb;173(2):315-323. Epub 2016 Nov 14 doi: 10.1002/ajmg.a.38051. PMID: 27862906Free PMC Article
Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, Michel JB; National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project, Jondeau G, Milewicz DM
Nat Genet 2012 Jul 8;44(8):916-21. doi: 10.1038/ng.2348. PMID: 22772371Free PMC Article
Fucci C, Cicco GD, Chiari E, Nardi M, Faggiano P, Procopio R, Coletti G, Rambaldini M, Lorusso R
J Cardiovasc Med (Hagerstown) 2007 May;8(5):354-8. doi: 10.2459/01.JCM.0000268120.45303.cf. PMID: 17443102
Babcock D, Gasner C, Francke U, Maslen C
Hum Genet 1998 Jul;103(1):22-8. doi: 10.1007/s004390050777. PMID: 9737771

Clinical prediction guides

Trifirò G, Mora S, Marelli S, Luzi L, Pini A
Bone 2020 Jun;135:115333. Epub 2020 Mar 25 doi: 10.1016/j.bone.2020.115333. PMID: 32222606
Matsushima S, Heß A, Lämmerzahl JR, Karliova I, Giebels C, Schäfers HJ
Eur J Cardiothorac Surg 2020 Jun 1;57(6):1091-1097. doi: 10.1093/ejcts/ezz380. PMID: 31972004
Speed TJ, Mathur VA, Hand M, Christensen B, Sponseller PD, Williams KA, Campbell CM
Am J Med Genet A 2017 Feb;173(2):315-323. Epub 2016 Nov 14 doi: 10.1002/ajmg.a.38051. PMID: 27862906Free PMC Article
Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, Michel JB; National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project, Jondeau G, Milewicz DM
Nat Genet 2012 Jul 8;44(8):916-21. doi: 10.1038/ng.2348. PMID: 22772371Free PMC Article
Babcock D, Gasner C, Francke U, Maslen C
Hum Genet 1998 Jul;103(1):22-8. doi: 10.1007/s004390050777. PMID: 9737771

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