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Marfan syndrome, severe classic

MedGen UID:
864489
•Concept ID:
C4016052
•
Finding
Synonym: MARFAN SYNDROME, SEVERE CLASSIC
 
OMIM®: 134797

Professional guidelines

PubMed

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
Colombi M, Dordoni C, Chiarelli N, Ritelli M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. PMID: 25821090
A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.
Chandra A, Aragon-Martin JA, Hughes K, Gati S, Reddy MA, Deshpande C, Cormack G, Child AH, Charteris DG, Arno G
Invest Ophthalmol Vis Sci 2012 Jul 24;53(8):4889-96. doi: 10.1167/iovs.12-9874. PMID: 22736615
FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.
Attanasio M, Lapini I, Evangelisti L, Lucarini L, Giusti B, Porciani M, Fattori R, Anichini C, Abbate R, Gensini G, Pepe G
Clin Genet 2008 Jul;74(1):39-46. Epub 2008 Apr 22 doi: 10.1111/j.1399-0004.2008.01007.x. PMID: 18435798

Recent clinical studies

Etiology

Marfan syndrome associated aortic disease in neonates and children: a clinical-morphologic review.
Ware AL, Miller DV, Erickson LK, Menon SC
Cardiovasc Pathol 2016 Sep-Oct;25(5):418-22. Epub 2016 Jun 16 doi: 10.1016/j.carpath.2016.06.002. PMID: 27479044
Joint hypermobility and headache: understanding the glue that binds the two together--part 1.
Neilson D, Martin VT
Headache 2014 Sep;54(8):1393-402. Epub 2014 Jul 16 doi: 10.1111/head.12418. PMID: 25040892
Classic and non-classic forms of mitral valve prolapse.
Tagarakis GI, Karantzis I, Tsolaki F, Stylianakis GE, Daskalopoulos ME, Tsilimingas NB
Anadolu Kardiyol Derg 2012 Feb;12(1):2-4. Epub 2012 Jan 4 doi: 10.5152/akd.2012.001. PMID: 22214735
Ehlers-Danlos syndromes and Marfan syndrome.
Callewaert B, Malfait F, Loeys B, De Paepe A
Best Pract Res Clin Rheumatol 2008 Mar;22(1):165-89. doi: 10.1016/j.berh.2007.12.005. PMID: 18328988
Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders.
Aoyama T, Francke U, Gasner C, Furthmayr H
Am J Med Genet 1995 Aug 28;58(2):169-76. doi: 10.1002/ajmg.1320580216. PMID: 8533811

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
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
Colombi M, Dordoni C, Chiarelli N, Ritelli M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. PMID: 25821090
Joint hypermobility and headache: understanding the glue that binds the two together--part 1.
Neilson D, Martin VT
Headache 2014 Sep;54(8):1393-402. Epub 2014 Jul 16 doi: 10.1111/head.12418. PMID: 25040892
Neurologic manifestations of inherited disorders of connective tissue.
Debette S, Germain DP
Handb Clin Neurol 2014;119:565-76. doi: 10.1016/B978-0-7020-4086-3.00037-0. PMID: 24365320
Ehlers-Danlos syndromes and Marfan syndrome.
Callewaert B, Malfait F, Loeys B, De Paepe A
Best Pract Res Clin Rheumatol 2008 Mar;22(1):165-89. doi: 10.1016/j.berh.2007.12.005. PMID: 18328988

Therapy

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
Child pectus excavatum: correction by minimally invasive surgery.
Felts E, Jouve JL, Blondel B, Launay F, Lacroix F, Bollini G
Orthop Traumatol Surg Res 2009 May;95(3):190-5. Epub 2009 Apr 18 doi: 10.1016/j.otsr.2009.03.001. PMID: 19376762

Prognosis

Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome.
Li J, Wu W, Lu C, Liu Y, Wang R, Si N, Liu F, Zhou J, Zhang S, Zhang X
Clin Chim Acta 2017 Nov;474:54-59. Epub 2017 Aug 24 doi: 10.1016/j.cca.2017.08.023. PMID: 28842177
Classic and non-classic forms of mitral valve prolapse.
Tagarakis GI, Karantzis I, Tsolaki F, Stylianakis GE, Daskalopoulos ME, Tsilimingas NB
Anadolu Kardiyol Derg 2012 Feb;12(1):2-4. Epub 2012 Jan 4 doi: 10.5152/akd.2012.001. PMID: 22214735
Frequency and age-related course of mitral valve dysfunction in the Marfan syndrome.
Rybczynski M, Mir TS, Sheikhzadeh S, Bernhardt AM, Schad C, Treede H, Veldhoen S, Groene EF, Kühne K, Koschyk D, Robinson PN, Berger J, Reichenspurner H, Meinertz T, von Kodolitsch Y
Am J Cardiol 2010 Oct 1;106(7):1048-53. doi: 10.1016/j.amjcard.2010.05.038. PMID: 20854973
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hövels-Gürich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T
Eur J Hum Genet 2001 Jan;9(1):13-21. doi: 10.1038/sj.ejhg.5200582. PMID: 11175294
Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders.
Aoyama T, Francke U, Gasner C, Furthmayr H
Am J Med Genet 1995 Aug 28;58(2):169-76. doi: 10.1002/ajmg.1320580216. PMID: 8533811

Clinical prediction guides

A clinical scoring system for early onset (neonatal) Marfan syndrome.
Zarate YA, Morris SA, Blackshare A, Algaze CA, Connor BS, Kim AJ, Yutzey KE, Miller EM, Weaver KN, Collins RT 2nd
Genet Med 2022 Jul;24(7):1503-1511. Epub 2022 Apr 14 doi: 10.1016/j.gim.2022.03.016. PMID: 35420547
Diversity in heritable disorders of connective tissue at a single center.
Hsu RH, Chien YH, Hwu WL, Lee NC
Connect Tissue Res 2021 Sep;62(5):580-585. Epub 2020 Sep 8 doi: 10.1080/03008207.2020.1816994. PMID: 32862725
Marfan syndrome associated aortic disease in neonates and children: a clinical-morphologic review.
Ware AL, Miller DV, Erickson LK, Menon SC
Cardiovasc Pathol 2016 Sep-Oct;25(5):418-22. Epub 2016 Jun 16 doi: 10.1016/j.carpath.2016.06.002. PMID: 27479044
Neurologic manifestations of inherited disorders of connective tissue.
Debette S, Germain DP
Handb Clin Neurol 2014;119:565-76. doi: 10.1016/B978-0-7020-4086-3.00037-0. PMID: 24365320
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hövels-Gürich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T
Eur J Hum Genet 2001 Jan;9(1):13-21. doi: 10.1038/sj.ejhg.5200582. PMID: 11175294

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