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Marfan syndrome, mild

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

Professional guidelines

PubMed

Prevalence and Outcomes of Primary Left Ventricular Dysfunction in Marfan Syndrome.
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
Surgical strategies in the management of chronic dissection of the thoracoabdominal aorta.
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
The neuromuscular differential diagnosis of joint hypermobility.
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

Therapy

Aortic valve reimplantation in patients with connective tissue disorders: Are the leaflets durable?
Svensson LG, Vargo PR, Desai MY, Kalahasti V, Griffin B, Roselli EE, Rosinski BF, Rajeswaran J, Blackstone EH
J Thorac Cardiovasc Surg 2023 Dec;166(6):1617-1626.e6. Epub 2022 Nov 24 doi: 10.1016/j.jtcvs.2022.11.019. PMID: 36740496
A progress report on reimplantation of the aortic valve.
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
Consultation Section: Glaucoma. Cataract, glaucoma, possible Marfan syndrome, and conception aspirations.
Samuelson TW
J Cataract Refract Surg 2020 Jan;46(1):154. doi: 10.1097/j.jcrs.0000000000000095. PMID: 32050248
A quarter of a century of experience with aortic valve-sparing operations.
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
Sleep-disordered breathing in Marfan's syndrome.
Cistulli PA, Sullivan CE
Am Rev Respir Dis 1993 Mar;147(3):645-8. doi: 10.1164/ajrccm/147.3.645. PMID: 8095125

Prognosis

Predictive Physical Manifestations for Progression of Scoliosis in Marfan Syndrome.
Taniguchi Y, Matsubayashi Y, Kato S, Doi T, Takeda N, Yagi H, Inuzuka R, Oshima Y, Tanaka S
Spine (Phila Pa 1976) 2021 Aug 1;46(15):1020-1025. doi: 10.1097/BRS.0000000000003939. PMID: 34228694
Sleep disordered breathing in Marfan syndrome: Value of standard screening questionnaires.
Sowho MO, Patil S, Schneider H, MacCarrick G, Kirkness JP, Wolfe LF, Sterni L, Cistulli PA, Neptune ER
Mol Genet Genomic Med 2020 Jan;8(1):e1039. Epub 2019 Nov 10 doi: 10.1002/mgg3.1039. PMID: 31707771Free PMC Article
Characterization of pain, disability, and psychological burden in Marfan syndrome.
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
Aortic root dilatation in athletic population.
Pelliccia A, Di Paolo FM, Quattrini FM
Prog Cardiovasc Dis 2012 Mar-Apr;54(5):432-7. doi: 10.1016/j.pcad.2012.01.004. PMID: 22386294
Evidence for Marfan cardiomyopathy.
Alpendurada F, Wong J, Kiotsekoglou A, Banya W, Child A, Prasad SK, Pennell DJ, Mohiaddin RH
Eur J Heart Fail 2010 Oct;12(10):1085-91. doi: 10.1093/eurjhf/hfq127. PMID: 20861133

Clinical prediction guides

Increased fracture rate in children and adolescents with Marfan syndrome.
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
Reexamining remodelling in children.
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
Isolated aortic root dilation in homocystinuria.
Lorenzini M, Guha N, Davison JE, Pitcher A, Pandya B, Kemp H, Lachmann R, Elliott PM, Murphy E
J Inherit Metab Dis 2018 Jan;41(1):109-115. Epub 2017 Oct 4 doi: 10.1007/s10545-017-0094-7. PMID: 28980096Free PMC Article
Characterization of pain, disability, and psychological burden in Marfan syndrome.
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
Aortic root dilatation in athletic population.
Pelliccia A, Di Paolo FM, Quattrini FM
Prog Cardiovasc Dis 2012 Mar-Apr;54(5):432-7. doi: 10.1016/j.pcad.2012.01.004. PMID: 22386294

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