Marfan syndrome].

Ilkka Kaitila, Eero Jokinen, Jorma Kokkonen

Helsingin yliopisto, lääketieteellisen genetiikan osasto.

Duodecim; lääketieteellinen aikakauskirja 2012

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This review on Marfan syndrome is focused on the clinical heterogeneity and variability, the new diagnostic criteria as delineated by an expert group in 2010, the current knowledge on the molecular and pathogenetic etiology, and the options of the medical and surgical treament. Defined clinical findings, family history and mutations in the FBN1 gene only differentiate Marfan syndrome from the other aortic syndromes. The involvement of the cellular TGF-beta-signaling in pathogenesis allows new approach for medical treatment with ATR-blockers for which, however, evidence based indications are still lacking. Finally, a suggestion is made how to arrange the diagnostic workup, appropriate treatment and follow-up of the Marfan patients in the Finnish health care.