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Marfan syndrome, atypical

MedGen UID:
864492
•Concept ID:
C4016055
•
Finding
Synonym: MARFAN SYNDROME, ATYPICAL
 
OMIM®: 134797

Professional guidelines

PubMed

Fibromuscular dysplasia: a differential diagnosis of vasculitis.
Pontes Tde C, Rufino GP, Gurgel MG, Medeiros AC, Freire EA
Rev Bras Reumatol 2012 Jan-Feb;52(1):70-4. PMID: 22286647
Cardiovascular characteristics in Marfan syndrome and their relation to the genotype.
De Backer J
Verh K Acad Geneeskd Belg 2009;71(6):335-71. PMID: 20232788
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

Recent clinical studies

Etiology

Retinal detachment in Loeys-Dietz syndrome.
Maghsoudi D, Nixon TRW, Snead MP
Am J Med Genet A 2023 Mar;191(3):846-849. Epub 2022 Dec 18 doi: 10.1002/ajmg.a.63077. PMID: 36529632
Nonsyndromic arteriopathy and aortopathy and vascular Ehlers-Danlos syndrome causing COL3A1 variants.
Yagi H, Takeda N, Amiya E, Akiyama N, Chang H, Ishiura H, Sato J, Akazawa H, Morita H, Komuro I
Am J Med Genet A 2022 Sep;188(9):2777-2782. Epub 2022 May 11 doi: 10.1002/ajmg.a.62774. PMID: 35543214
Genetics of syndromic and non-syndromic mitral valve prolapse.
Le Tourneau T, Mérot J, Rimbert A, Le Scouarnec S, Probst V, Le Marec H, Levine RA, Schott JJ
Heart 2018 Jun;104(12):978-984. Epub 2018 Jan 19 doi: 10.1136/heartjnl-2017-312420. PMID: 29352010Free PMC Article
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.
Giorgio E, Brussino A, Biamino E, Belligni EF, Bruselles A, Ciolfi A, Caputo V, Pizzi S, Calcia A, Di Gregorio E, Cavalieri S, Mancini C, Pozzi E, Ferrero M, Riberi E, Borelli I, Amoroso A, Ferrero GB, Tartaglia M, Brusco A
Eur J Paediatr Neurol 2017 May;21(3):475-484. Epub 2016 Dec 19 doi: 10.1016/j.ejpn.2016.12.005. PMID: 28027854
Cardiovascular characteristics in Marfan syndrome and their relation to the genotype.
De Backer J
Verh K Acad Geneeskd Belg 2009;71(6):335-71. PMID: 20232788

Diagnosis

Retinal detachment in Loeys-Dietz syndrome.
Maghsoudi D, Nixon TRW, Snead MP
Am J Med Genet A 2023 Mar;191(3):846-849. Epub 2022 Dec 18 doi: 10.1002/ajmg.a.63077. PMID: 36529632
Nonsyndromic arteriopathy and aortopathy and vascular Ehlers-Danlos syndrome causing COL3A1 variants.
Yagi H, Takeda N, Amiya E, Akiyama N, Chang H, Ishiura H, Sato J, Akazawa H, Morita H, Komuro I
Am J Med Genet A 2022 Sep;188(9):2777-2782. Epub 2022 May 11 doi: 10.1002/ajmg.a.62774. PMID: 35543214
Lujan-Fryns Syndrome Phenotype with Autism-Like Behavior and Atypical Psychotic Symptoms: Case Report.
Geniş B, Şahin F, Coşar B
Turk Psikiyatri Derg 2020 Fall;31(3):216-220. doi: 10.5080/u23940. PMID: 32978958
Three cases of stroke in patients with atypical presentation of type a aortic dissection--potential of neurosonography in the early diagnosis of atypical stroke.
Seliger C, Turmanidze N, Schmid E, Wiethölter H, Boy S, Bogdahn U, Kaiser B, Schlachetzki F
Ultraschall Med 2011 Dec;32(6):619-21. Epub 2011 Sep 5 doi: 10.1055/s-0031-1281718. PMID: 21894602
Cardiovascular characteristics in Marfan syndrome and their relation to the genotype.
De Backer J
Verh K Acad Geneeskd Belg 2009;71(6):335-71. PMID: 20232788

Therapy

Acute ischemic stroke with a diagnosis of Marfan syndrome: A report of 3 cases in multifaceted settings.
Chen L, Liu Y, Jiang J, Fang Q, Zhang Q
Medicine (Baltimore) 2024 May 10;103(19):e37924. doi: 10.1097/MD.0000000000037924. PMID: 38728516Free PMC Article
Erosion of Common Femoral Artery 3 Years After Total Hip Arthroplasty in a Patient with Marfan Syndrome: A Case Report.
Kammien A, Radford Z, Aboian E, Kostiuk V, Gibson D
JBJS Case Connect 2021 Aug 4;11(3) doi: 10.2106/JBJS.CC.21.00208. PMID: 35102090
An Atypical Case of Mounier-Kuhn Syndrome: Time to Change the Diagnostic Approach?
Kuwal A, Dutt N, Chauhan N, Kumar S, Purohit S, Saini LK
J Bronchology Interv Pulmonol 2017 Jan;24(1):84-87. doi: 10.1097/LBR.0000000000000226. PMID: 27367849

Prognosis

Nonsyndromic arteriopathy and aortopathy and vascular Ehlers-Danlos syndrome causing COL3A1 variants.
Yagi H, Takeda N, Amiya E, Akiyama N, Chang H, Ishiura H, Sato J, Akazawa H, Morita H, Komuro I
Am J Med Genet A 2022 Sep;188(9):2777-2782. Epub 2022 May 11 doi: 10.1002/ajmg.a.62774. PMID: 35543214
Genetics of syndromic and non-syndromic mitral valve prolapse.
Le Tourneau T, Mérot J, Rimbert A, Le Scouarnec S, Probst V, Le Marec H, Levine RA, Schott JJ
Heart 2018 Jun;104(12):978-984. Epub 2018 Jan 19 doi: 10.1136/heartjnl-2017-312420. PMID: 29352010Free PMC Article
ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians.
van Bysterveldt KA, Al Taie R, Ikink W, Oliver VF, Vincent AL
Ophthalmic Genet 2017 Dec;38(6):537-543. Epub 2017 Apr 10 doi: 10.1080/13816810.2017.1309552. PMID: 28394649
Fibromuscular dysplasia: a differential diagnosis of vasculitis.
Pontes Tde C, Rufino GP, Gurgel MG, Medeiros AC, Freire EA
Rev Bras Reumatol 2012 Jan-Feb;52(1):70-4. PMID: 22286647
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

Clinical prediction guides

Lujan-Fryns Syndrome Phenotype with Autism-Like Behavior and Atypical Psychotic Symptoms: Case Report.
Geniş B, Şahin F, Coşar B
Turk Psikiyatri Derg 2020 Fall;31(3):216-220. doi: 10.5080/u23940. PMID: 32978958
ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians.
van Bysterveldt KA, Al Taie R, Ikink W, Oliver VF, Vincent AL
Ophthalmic Genet 2017 Dec;38(6):537-543. Epub 2017 Apr 10 doi: 10.1080/13816810.2017.1309552. PMID: 28394649
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review.
Dordoni C, Ciaccio C, Santoro G, Venturini M, Cavallari U, Ritelli M, Colombi M
Am J Med Genet A 2017 Jan;173(1):200-206. Epub 2016 Sep 12 doi: 10.1002/ajmg.a.37975. PMID: 27615407
Cardiovascular characteristics in Marfan syndrome and their relation to the genotype.
De Backer J
Verh K Acad Geneeskd Belg 2009;71(6):335-71. PMID: 20232788
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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