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Familära torakala aortaaneurysm och dissektioner: flera former finns
Umeå University, Faculty of Medicine, Department of Surgical and Perioperative Sciences, Anaesthesiology.
Umeå University, Faculty of Medicine, Department of Medical Biosciences.
Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Medicine.ORCID iD: 0000-0002-9279-2791
2014 (Swedish)In: Läkartidningen, ISSN 0023-7205, E-ISSN 1652-7518, Vol. 111, no 9-10, 399-403 p.Article in journal (Refereed) Published
Abstract [en]

Thoracic aortic aneurysms and dissections (TAAD) can be divided into three different main categories. 1. Inherited syndromes predisposing to TAAD such as Marfan syndrome, Ehlers-Danlos syndrome type IV and Loeys-Dietz syndrome (less than 5% of all TAAD). 2. Familial TAAD (FTAAD) with more than one affected family member (20 % of all TAAD). Inheritance shows an autosomal dominant pattern and there are no features of known syndromes. 3. Sporadic forms of TAAD with no family history or features of syndromic forms. FTAAD present earlier in life and dissections occur in smaller diameter than in sporadic cases. The underlying genetic cause can be found in about 20 % of the inherited cases. The pathogenesis seems to be an involvement of the transforming growth factor β (TGFβ) signaling pathway or a dysfunction of the smooth muscle cell contraction. The role of β-blockers for aneurysm prevention is uncertain and there are on-going studies comparing angiotensin receptor blockers and β-blockers.

Place, publisher, year, edition, pages
Stockholm: Sveriges läkarförbund , 2014. Vol. 111, no 9-10, 399-403 p.
National Category
Cardiac and Cardiovascular Systems
Identifiers
URN: urn:nbn:se:umu:diva-107197PubMedID: 24570135OAI: oai:DiVA.org:umu-107197DiVA: diva2:847321
Note

Title in English: Familial thoracic aortic aneurysms and dissections can be divided into three different main categories

Available from: 2015-08-19 Created: 2015-08-19 Last updated: 2017-12-04Bibliographically approved

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Hannuksela, MatiasStattin, Eva-LenaCarlberg, Bo
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