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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

Etiology

Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity.
Landis BJ, Schubert JA, Lai D, Jegga AG, Shikany AR, Foroud T, Ware SM, Hinton RB
J Cardiovasc Transl Res 2017 Aug;10(4):423-432. Epub 2017 May 26 doi: 10.1007/s12265-017-9753-1. PMID: 28550590Free PMC Article
Phenotype presentation for a novel mutation affecting a conserved cysteine residue in exon 63 of fibrillin-1 (Cys2633Arg).
Stevic I, Kozenko M, Lostracco R, Chan AK, Chan HH
Biochem Genet 2014 Jun;52(5-6):225-32. Epub 2014 Feb 7 doi: 10.1007/s10528-014-9642-0. PMID: 24504995
Valvular heart disease and pregnancy.
Traill TA
Cardiol Clin 2012 Aug;30(3):369-81. Epub 2012 May 30 doi: 10.1016/j.ccl.2012.04.004. PMID: 22813363
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
Scoliosis in children with pectus excavatum and pectus carinatum.
Waters P, Welch K, Micheli LJ, Shamberger R, Hall JE
J Pediatr Orthop 1989 Sep-Oct;9(5):551-6. doi: 10.1097/01241398-198909010-00009. PMID: 2794028

Diagnosis

Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.
Jensen SA, Atwa O, Handford PA
PLoS One 2021;16(3):e0248532. Epub 2021 Mar 18 doi: 10.1371/journal.pone.0248532. PMID: 33735269Free PMC Article
Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity.
Landis BJ, Schubert JA, Lai D, Jegga AG, Shikany AR, Foroud T, Ware SM, Hinton RB
J Cardiovasc Transl Res 2017 Aug;10(4):423-432. Epub 2017 May 26 doi: 10.1007/s12265-017-9753-1. PMID: 28550590Free PMC Article
Images in clin medicine: Ectopia lentis.
Çebi Olgun D, Kantarci F
N Engl J Med 2015 Feb 26;372(9):e13. doi: 10.1056/NEJMicm1308550. PMID: 25714185
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
The unravelling of primary myocardial impairment in Marfan syndrome by modern echocardiography.
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

Passing a Mechanical Aortic Valve With a Short Tip Dilator to Facilitate Aortic Arch Endovascular Branched Repair.
Konstantinou N, Peterss S, Stana J, Rantner B, Banafsche R, Pichlmaier M, Tsilimparis N
J Endovasc Ther 2021 Jun;28(3):388-392. Epub 2021 Mar 31 doi: 10.1177/15266028211002506. PMID: 33789508
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
Type B aortic dissection triggered by heart transplantation in a patient with Marfan syndrome.
Audenaert T, De Pauw M, François K, De Backer J
BMJ Case Rep 2015 Oct 16;2015 doi: 10.1136/bcr-2015-211138. PMID: 26475875Free PMC Article
Edge-to-edge mitral valve repair for isolated prolapse of the anterior leaflet caused by degenerative disease.
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

Thoraco-abdominal aortic aneurysm rupture in a patient with Shprintzen-Goldberg syndrome.
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
Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity.
Landis BJ, Schubert JA, Lai D, Jegga AG, Shikany AR, Foroud T, Ware SM, Hinton RB
J Cardiovasc Transl Res 2017 Aug;10(4):423-432. Epub 2017 May 26 doi: 10.1007/s12265-017-9753-1. PMID: 28550590Free 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
Prenatal diagnosis in congenital contractural arachnodactyly.
Belleh S, Spooner L, Allanson J, Godfrey M
Genet Test 1997-1998;1(4):293-6. doi: 10.1089/gte.1997.1.293. PMID: 10464661
Scoliosis in children with pectus excavatum and pectus carinatum.
Waters P, Welch K, Micheli LJ, Shamberger R, Hall JE
J Pediatr Orthop 1989 Sep-Oct;9(5):551-6. doi: 10.1097/01241398-198909010-00009. PMID: 2794028

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
Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity.
Landis BJ, Schubert JA, Lai D, Jegga AG, Shikany AR, Foroud T, Ware SM, Hinton RB
J Cardiovasc Transl Res 2017 Aug;10(4):423-432. Epub 2017 May 26 doi: 10.1007/s12265-017-9753-1. PMID: 28550590Free PMC Article
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.
Hilhorst-Hofstee Y, Rijlaarsdam ME, Scholte AJ, Swart-van den Berg M, Versteegh MI, van der Schoot-van Velzen I, Schäbitz HJ, Bijlsma EK, Baars MJ, Kerstjens-Frederikse WS, Giltay JC, Hamel BC, Breuning MH, Pals G
Hum Mutat 2010 Dec;31(12):E1915-27. doi: 10.1002/humu.21372. PMID: 20886638Free PMC Article
A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly.
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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