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Marfan and Marfan-related disorder

MedGen UID:
1842966
•Concept ID:
C5681015
•
Disease or Syndrome
Synonym: Marfan syndrome and Marfan-related disorders
 
Monarch Initiative: MONDO:0017310
Orphanet: ORPHA284993

Professional guidelines

PubMed

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A
Arch Intern Med 2001 Nov 12;161(20):2447-54. doi: 10.1001/archinte.161.20.2447. PMID: 11700157

Recent clinical studies

Etiology

Health-related quality of life in Marfan syndrome: a 10-year follow-up.
Vanem TT, Rand-Hendriksen S, Brunborg C, Geiran OR, Røe C
Health Qual Life Outcomes 2020 Dec 1;18(1):376. doi: 10.1186/s12955-020-01633-4. PMID: 33256748Free PMC Article
The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums.
Seo GH, Kim YM, Kang E, Kim GH, Seo EJ, Lee BH, Choi JH, Yoo HW
Medicine (Baltimore) 2018 May;97(20):e10767. doi: 10.1097/MD.0000000000010767. PMID: 29768367Free PMC Article
Fatigue in adults with Marfan syndrome, occurrence and associations to pain and other factors.
Bathen T, Velvin G, Rand-Hendriksen S, Robinson HS
Am J Med Genet A 2014 Aug;164A(8):1931-9. Epub 2014 Apr 9 doi: 10.1002/ajmg.a.36574. PMID: 24719044
Imaging and clinical features in a child with Loeys-Dietz syndrome. A case report.
Suarez B, Caldera A, Castillo M
Interv Neuroradiol 2011 Mar;17(1):9-11. Epub 2011 Apr 18 doi: 10.1177/159101991101700102. PMID: 21561552Free PMC Article
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Comeglio P, Johnson P, Arno G, Brice G, Evans A, Aragon-Martin J, da Silva FP, Kiotsekoglou A, Child A
Hum Mutat 2007 Sep;28(9):928. doi: 10.1002/humu.9505. PMID: 17657824

Diagnosis

The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums.
Seo GH, Kim YM, Kang E, Kim GH, Seo EJ, Lee BH, Choi JH, Yoo HW
Medicine (Baltimore) 2018 May;97(20):e10767. doi: 10.1097/MD.0000000000010767. PMID: 29768367Free PMC Article
Fatigue in adults with Marfan syndrome, occurrence and associations to pain and other factors.
Bathen T, Velvin G, Rand-Hendriksen S, Robinson HS
Am J Med Genet A 2014 Aug;164A(8):1931-9. Epub 2014 Apr 9 doi: 10.1002/ajmg.a.36574. PMID: 24719044
Marfan syndrome: from gene to therapy.
Bolar N, Van Laer L, Loeys BL
Curr Opin Pediatr 2012 Aug;24(4):498-504. doi: 10.1097/MOP.0b013e3283557d4c. PMID: 22705998
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Comeglio P, Johnson P, Arno G, Brice G, Evans A, Aragon-Martin J, da Silva FP, Kiotsekoglou A, Child A
Hum Mutat 2007 Sep;28(9):928. doi: 10.1002/humu.9505. PMID: 17657824
Clinical and genetic associations in Marfan syndrome and related disorders.
Ramirez F, Lee B, Vitale E
Mt Sinai J Med 1992 Sep;59(4):350-6. PMID: 1406753

Therapy

True abdominal aortic aneurysm in Marfan syndrome.
Takayama T, Miyata T, Nagawa H
J Vasc Surg 2009 May;49(5):1162-5. doi: 10.1016/j.jvs.2008.12.007. PMID: 19307079

Prognosis

Health-related quality of life in Marfan syndrome: a 10-year follow-up.
Vanem TT, Rand-Hendriksen S, Brunborg C, Geiran OR, Røe C
Health Qual Life Outcomes 2020 Dec 1;18(1):376. doi: 10.1186/s12955-020-01633-4. PMID: 33256748Free PMC Article
Work participation in adults with Marfan syndrome: Demographic characteristics, MFS related health symptoms, chronic pain, and fatigue.
Velvin G, Bathen T, Rand-Hendriksen S, Geirdal AØ
Am J Med Genet A 2015 Dec;167A(12):3082-90. Epub 2015 Sep 30 doi: 10.1002/ajmg.a.37370. PMID: 26420568
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
A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability.
Jamsheer A, Henggeler C, Wierzba J, Loeys B, De Paepe A, Stheneur Ch, Badziag N, Matuszewska K, Matyas G, Latos-Bielenska A
J Appl Genet 2009;50(4):405-10. doi: 10.1007/BF03195701. PMID: 19875893
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Comeglio P, Johnson P, Arno G, Brice G, Evans A, Aragon-Martin J, da Silva FP, Kiotsekoglou A, Child A
Hum Mutat 2007 Sep;28(9):928. doi: 10.1002/humu.9505. PMID: 17657824

Clinical prediction guides

Three-dimensional co-culturing of stem cell-derived cardiomyocytes and cardiac fibroblasts reveals a role for both cell types in Marfan-related cardiomyopathy.
Aalders J, Léger L, Van der Meeren L, Sinha S, Skirtach AG, De Backer J, van Hengel J
Matrix Biol 2024 Feb;126:14-24. Epub 2024 Jan 13 doi: 10.1016/j.matbio.2024.01.003. PMID: 38224822
Health-related quality of life in Marfan syndrome: a 10-year follow-up.
Vanem TT, Rand-Hendriksen S, Brunborg C, Geiran OR, Røe C
Health Qual Life Outcomes 2020 Dec 1;18(1):376. doi: 10.1186/s12955-020-01633-4. PMID: 33256748Free PMC Article
Fatigue in adults with Marfan syndrome, occurrence and associations to pain and other factors.
Bathen T, Velvin G, Rand-Hendriksen S, Robinson HS
Am J Med Genet A 2014 Aug;164A(8):1931-9. Epub 2014 Apr 9 doi: 10.1002/ajmg.a.36574. PMID: 24719044
Unique phenotype in a Chinese family pedigree: ectopia lentis with varicose great saphenous vein.
Shen W, Fu Q, Sui R, Wu J, Liu L
Eye (Lond) 2010 Oct;24(10):1614-7. Epub 2010 Jun 4 doi: 10.1038/eye.2010.82. PMID: 20523356
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Comeglio P, Johnson P, Arno G, Brice G, Evans A, Aragon-Martin J, da Silva FP, Kiotsekoglou A, Child A
Hum Mutat 2007 Sep;28(9):928. doi: 10.1002/humu.9505. PMID: 17657824

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