Marfans syndrom
Marfans syndrom er en arvelig bindevevssykdom som kan gi symptomer og tegn fra ulike organ i kroppen, først og fremst fra øynene, hjerte- og karsystemet og muskelskjelettapparatet.
Sist revidert:
Del pasientinformasjon
Den ligger åpent tilgjengelig på NHI.no sammen annen relevant informasjon
https://nhi.no/sykdommer/barn/arvelige-og-medfodte-tilstander/marfans-syndrom/Hva er Marfans syndrom?
Årsak
Symptomer
Diagnosen
Behandling
Prognose
Vil du vite mer?
Kilder
Referanser
Dette dokumentet er basert på det profesjonelle dokumentet Marfans syndrom. Referanselisten for dette dokumentet vises nedenfor.
- Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010; 47: 476-85. PMID: 20591885 PubMed
- Judge DP, Dietz HC. Marfan's syndrome. Lancet 2005; 366: 1965-76. PubMed
- Kinoshita N, Mimura J, Obayashi C, Katsukawa F, Onishi S and Yamazaki H. Aortic root dilatation among young competitive athletes: echocardiographic screening of 1929 athletes between 15 and 34 years of age. Am Heart J 2000; 139: 723-8. PubMed
- Cañadas V, Vilacosta I, Bruna I, Fuster V. Marfan syndrome. Part 1: pathophysiology and diagnosis. Nat Rev Cardiol. 2010 Mar 30.
- Loeys B, De Backer J, De Acker P, et al. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat 2004; 24: 140-6. PubMed
- Inna P. Marfan syndrome. Medscape, last updated Dec 10, 2015.
- Ammash NM, Sundt TM, Connolly HM. Marfan syndrome-diagnosis and management. Curr Probl Cardiol. 2008 Jan. 33(1):7-39.
- Mommertz G, Sigala F, Langer S, et al. Thoracoabdominal aortic aneurysm repair in patients with Marfan syndrome. Eur J Vasc Endovasc Surg. 2008 Feb. 35(2):181-6.
- Velvin G, Bathen T, Rand-Hendriksen S, Geirdal AO. Systematic review of chronic pain in persons with Marfan syndrome. Clin Genet. 2015; 89: 647-58. PMID: 26607862 PubMed
- Bathen T, Velvin G, Robinson HS, Rand-Hendriksen S. Fatigue in adults with Marfan syndrome, occurrence and associations to pain and other factors. Am J Med Genet A 2014; 164A: 1931-9. PMID: 24719044 PubMed
- Iams HD. Diagnosis and management of Marfan syndrome. Curr Sports Med Rep. 2010 Mar-Apr. 9(2):93-8.
- Dyhdalo K, Farver C. Pulmonary histologic changes in Marfan syndrome: a case series and literature review. Am J Clin Pathol 2011; 136:857. PubMed
- Faivre L, Collod-Beroud G, Loeys BL, et al. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FB1 mutations: an international study. Am J Hum Genet 2007; 81: 454-66. PubMed
- Skovby F, Kjeldsen HC, Sachs C. Marfans syndrom. Lægehåndbogen, sist oppdatert 28.02.2018.
- Tinkle BT, Saal HM, Committee on genetics, Health supervision for children with Marfan syndrome. Pediatrics 2013;132: e1059-72 Pediatrics
- Jones KB, Erkula G, Sponseller PD and Dormans JP. Spine deformity correction in Marfan syndrome. Spine 2002; 27: 2003-12. PubMed
- Nuss D. Recent experiences with minimally invasive pectus excavatum repair "Nuss procedure". Jpn J Thorac Cardiovasc Surg 2005; 53: 338-44. PubMed
- Maron BJ, Chaitman BR, Ackerman MJ, et al. Recommendations for physical activity and recreational sports participation for young patients With genetic cardiovascular diseases. Circulation 2004; 109: 2807-16. Circulation
- Dietz H. Marfan syndrome. GeneReviews, last updated Oct 12, 2017. www.ncbi.nlm.nih.gov
- Hiratzka LF, Bakris GL, Beckman JA, et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease. Circulation 2010; 121:e266. Circulation
- Ahimastos AA, Aggarwal A, D'Orsa KM, et al. Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial. JAMA 2007; 298:1539. Journal of the American Medical Association
- Lacro RV, Dietz HC, Sleeper LA, et al. Atenolol versus Losartan in Children and Young Adults with Marfan's Syndrome. N Engl J Med 2014. doi:DOI: 10.1056/NEJMoa1404731 DOI
- Mullen M, Jin XY, Child A, et al. Irbesartan in Marfan syndrome (AIMS): a double-blind, placebo-controlled randomised trial. Lancet 2019. doi:10.1016/S0140-6736(19)32518-8 DOI
- Gott VL, Cameron DE, Alejo DE, et al. Aortic root replacement in 271 Marfan patients: a 24-year experience. Ann Thorac Surg 2002; 73: 438-43. PubMed
- de Oliveira NC, David TE, Ivanov J et al. Results of surgery for aortic root aneurysm in patients with Marfan syndrome. J Thorac Cardiovasc Surg 2003; 125: 789-96. PubMed
- Bethea BT, Fitton TP, Alejo DE, et al. Results of aortic valve-sparing operations: Experience with remodeling and reimplantation procedures in 65 patients. Ann Thorac Surg 2004; 78: 767-72. PubMed
- De Paulis R, De Matteis GM, Nardi P, et al. One-year appraisal of a new aortic root conduit with sinuses of Valsalva. J Thorac Cardiovasc Surg 2002; 123: 33-9. PubMed
- Donnelly RT, Pinto NM, Kocolas I, Yetman AT. The immediate and long-term impact of pregnancy on aortic growth rate and mortality in women with Marfan syndrome. J Am Coll Cardiol 2012; 60:224. PubMed
- Meijboom LJ, Vos FE, Timmermans J, et al. Pregnancy and aortic root growth in the Marfan syndrome: a prospective study. Eur Heart J 2005; 26: 914-20. European Heart Journal
- Marr JE, Halliwell-Ewen J, Fisher B, Soler L and Ainsworth JR. Associations of high myopia in childhood. Eye 2001; 15: 70-4. PubMed
- Vanem TT, Geiran OR, Krohg-Sørensen K, et al. Survival, causes of death, and cardiovascular events in patients with Marfan syndrome. Mol Genet Genomic Med 2018; 6:1114-23. PMID: 30393980 PubMed
- Baumgartner H, Bonhoeffer P, De Groot NM, et al. ESC Guidelines for the management of grown-up congenital heart disease (new version 2010). Eur Heart J 2010; 31: 2915-57. PMID: 20801927 PubMed