FLNA mutations and thoracic aortic aneurysm/dissections : new roles in aortopathy in the young

2015 Fiscal Year Final Research Report

• Project/Area Number: 25461143
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Cardiovascular medicine
• Research Institution: National Cardiovascular Center Research Institute
• Principal Investigator: Morisaki Hiroko 国立研究開発法人国立循環器病研究センター, 研究所, 室長 (40311451)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: FLNA遺伝子 / 異所性灰白質 / エーラスダンロス症候群 / 胸部大動脈瘤 / 僧帽弁閉鎖不全

Outline of Final Research Achievements

FLNA was shown as a responsible gene for X-linked PNH. Recently cardiovascular involvement, including valve insufficiency or aortic aneurysm, was reported in several cases with FLNA mutations. We investigated incidence of FLNA mutation in 372 individuals with young-onset or familial TAAD and/or related connective tissue disorders, who were confirmed not to have any pathogenic mutation in FBN1, TGFBR1, TGFBR2, ACTA2 or SMAD3. FLNA mutations were identified in 7 probands　( 4males 3 females). Family study identified 5 more cases.　All 6 male cases showed severe joint hypermobility but PNH were noticed in only 2 cases, while only 2 female cases showed mild joint hypermobility and 4 presented PNH. Aortic aneurysms were presented in 7 cases, and 3 cases needed aortic replacement surgery. 8 cases presented mitral valve insufficiency and 2 went through mitral valve replacement surgery. In total, cardiovascular involvement were common in FLNA mutation carriers.

Free Research Field

臨床遺伝学