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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.

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https://nhi.no/sykdommer/barn/arvelige-og-medfodte-tilstander/marfans-syndrom/ 

Hva er Marfans syndrom?

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Referanser

Dette dokumentet er basert på det profesjonelle dokumentet Marfans syndrom. Referanselisten for dette dokumentet vises nedenfor.

  1. Sunnaas sykehus. Medisinske forhold ved Marfans syndrom. Sist oppdatert 01.04.2020. www.sunnaas.no 
  2. Holten-Andersen MN, Holmstrøm H, Neukamm C, Riise N. Kardiologisk oppfølging av barn med Marfan Syndrom. Generell veileder i pediatri. Sist revidert 2018. https://www.helsebiblioteket.no/pediatriveiledere?menuitemkeylev1=5962&menuitemkeylev2=5970&key=262181
  3. Dietz H. FBN1-Related Marfan Syndrome. In: Adam MP, Mirzaa GM, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; April 18, 2001.
  4. Cañadas V, Vilacosta I, Bruna I, Fuster V. Marfan syndrome. Part 1: pathophysiology and diagnosis. Nat Rev Cardiol. 2010 Mar 30.
  5. Hiratzka LF, 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:e266-369. Circulation 
  6. Inna P. Marfan syndrome. Medscape, last updated Dec 10, 2015.
  7. Ammash NM, Sundt TM, Connolly HM. Marfan syndrome-diagnosis and management. Curr Probl Cardiol. 2008 Jan. 33(1):7-39.
  8. 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.
  9. 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 
  10. 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 
  11. Iams HD. Diagnosis and management of Marfan syndrome. Curr Sports Med Rep. 2010 Mar-Apr. 9(2):93-8.
  12. Dyhdalo K, Farver C. Pulmonary histologic changes in Marfan syndrome: a case series and literature review. Am J Clin Pathol 2011; 136:857. PubMed 
  13. 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 
  14. Tinkle BT, Saal HM, Committee on genetics, Health supervision for children with Marfan syndrome. Pediatrics 2013;132: e1059-72 Pediatrics 
  15. Nuss D. Recent experiences with minimally invasive pectus excavatum repair "Nuss procedure". Jpn J Thorac Cardiovasc Surg 2005; 53: 338-44. PubMed 
  16. Jouini S, Milleron O, Eliahou L, Jondeau G, Vitiello D. Is physical activity a future therapy for patients with Marfan syndrome?. Orphanet J Rare Dis. 2022;17(1):46. Published 2022 Feb 10. PMID: 35144638 PubMed 
  17. Dietz H. Marfan syndrome. GeneReviews, last updated Oct 12, 2017. www.ncbi.nlm.nih.gov 
  18. 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 
  19. 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 
  20. 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 
  21. 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 
  22. Milleron O, Arnoult F, Delorme G, et al. Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome. J Am Coll Cardiol. 2020;75(8):843-853. PubMed 
  23. 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 
  24. 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 
  25. 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 
  26. 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