臨床婦人科産科78巻2号

2024年03月発行

今月の臨床 重篤な遺伝性疾患の着床前診断―患者ニーズと診断・治療の現状

疾患各論

Marfan症候群および類縁疾患

著者： 白木瑛一¹² 今井靖¹

所属機関： ¹自治医科大学薬理学講座臨床薬理学部門 ²新城市民病院総合診療科

ページ範囲：P.198 - P.203

文献概要

●Marfan症候群は遺伝性疾患であり，早期からの介入が必要となる．

●主に骨関節係・心血管系・眼系の症状が認められる．

●Marfan症候群の死亡の原因として心血管系があり，外科的介入が必要となる．

●Marfan症候群に対する遺伝カウンセリングが必要である．

参考文献

1）Loeys BL, et al : The revised Ghent nosology for the Marfan syndrome. J Med Genet 47 : 476-485, 2010

2）Kainulainen K, et al : Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med 323 : 935-939, 1990

3）Dietz HC, et al : Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352 : 337-339, 1991

4）Loeys BL, et al : A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37 : 275-281, 2005

5）Ogawa N, et al : Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. Am J Cardiol 108 : 1801-1807, 2011

6）Adams JN, et al : Aortic complications of Marfan's syndrome. Lancet 352 : 1722-1723, 1998

7）Finkbohner R, et al : Marfan syndrome. Long-term survival and complications after aortic aneurysm repair. Circulation 91 : 728-733, 1995

8）Silverman DI, et al : Life expectancy in the Marfan syndrome. Am J Cardiol 75 : 157-160, 1995

9）Brooke BS, et al : Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N Engl J Med 358 : 2787-2795, 2008

10）Wang Z, et al : Angiotensin receptor blockers vs. beta-blocker therapy for Marfan syndrome : a systematic review and meta-analysis. Ann Vasc Surg 82 : 347-361, 2022

11）Donnelly RT, et al : The immediate and long-term impact of pregnancy on aortic growth rate and mortality in women with Marfan syndrome. J Am Coll Cardiol 60 : 224-229, 2012

12）Meijboom LJ, et al : Pregnancy and aortic root growth in the Marfan syndrome : a prospective study. Eur Heart J 26 : 914-920, 2005

13）European Society of Gynecology, et al；Regitz-Zagrosek V, et al : ESC Guidelines on the management of cardiovascular diseases during pregnancy : task force on the management of cardiovascular diseases during pregnancy of the European Society of Cardiology（ESC）. Eur Heart J 32 : 3147-3197, 2011

14）Boileau C, et al : TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet 44 : 916-921, 2012

15）Bertoli-Avella AM, et al : Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. J Am Coll Cardiol 65 : 1324-1336, 2015

16）van de Laar IM, et al : Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet 43 : 121-126, 2011