An update on the pathophysiology, treatment and genetics of Marfan syndrome
| Autor: | Debby A. M. Bom, Romy Franken, Charissa A. C. Jessurun |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Drug
Marfan syndrome musculoskeletal diseases medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities media_common.quotation_subject Aortic root 030204 cardiovascular system & hematology Bioinformatics 03 medical and health sciences 0302 clinical medicine Medicine Pharmacology (medical) 030212 general & internal medicine Aortic dilation Pharmacology Toxicology and Pharmaceutics (miscellaneous) media_common business.industry Health Policy medicine.disease Pathophysiology Surgery Dissection Losartan cardiovascular system business Haploinsufficiency medicine.drug |
| Zdroj: | Expert opinion on orphan drugs. 4(6):605-612 |
| ISSN: | 2167-8707 |
| Popis: | Introduction: Marfan syndrome (MFS) is an autosomal dominant disorder of the connective tissue with manifestations in skeletal, cardiovascular and ocular systems. Areas covered: This paper reviews the effect of FBN1 mutation on phenotype, novel surgical techniques and losartan treatment in MFS. Expert opinion: Early diagnosis by the revised Ghent criteria and timely prophylactic (valve-sparing) aortic root replacement are important factors to improve life expectancy. Endovascular aortic stenting should not be done in MFS patients. beta-blockers remain the drug of choice in preventing aortic dilation and dissection. Although controversial results are reported, losartan is a safe additive or alternative to beta-blockers, especially in patients with side effects or intolerance to beta-blocker therapy. The different outcomes in losartan trials may be due to the large amount of different FBN1 mutations, influencing the drug response; patients with an haploinsufficiency mutation seemed to respond better to losartan treatment than patients with a dominant negative mutation. In addition, patients with a haploinsufficiency mutation are at increased risk for aortic dissection and cardiovascular mortality. The final ongoing trials and collaborative meta-analysis are awaited for the definitive role of losartan in patients with MFS. Tremendous progress in the understanding of MFS has been reached |
| Databáze: | OpenAIRE |
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