p.102 抽出テキスト

phenotype associated with mutations in exons 23-32 of the FBN1 gene. Am J Med Genet 1996; 62: 233-242. PMID: 8882780 329. Takeda N, Inuzuka R, Maemura S, et al. Impact of Pathogenic FBN 1 Variant Types on the Progression of Aortic Disease in Patients With Marfan Syndrome. Circ Genom Precis Med 2018; 11: e002058. PMID: 29848614 330. Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010; 47: 476-485. PMID: 20591885 331. Roman MJ, Devereux RB, Kramer-Fox R, et al. Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol 1989; 64: 507-512. PMID: 2773795 332. Marfan Foundation. https://www.marfan.org/dx/zscore 333. Akutsu K, Morisaki H, Okajima T, et al. Genetic analysis of young adult patients with aortic disease not fulfilling the diagnostic criteria for Marfan syndrome. Circ J 2010; 74: 990-997. PMID: 20354336 334. Ogawa N, Imai Y, Takahashi Y, et al. Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin- 1 gene. Am J Cardiol 2011; 108: 1801-1807. PMID: 21907952 335. Brooke BS, Habashi JP, Judge DP, et al. Angiotensin II blockade and aortic-root dilation in Marfan’s syndrome. N Engl J Med 2008; 358: 2787-2795. PMID: 18579813 336. van Andel MM, Indrakusuma R, Jalalzadeh H, et al. Long-term clinical outcomes of losartan in patients with Marfan syndrome: follow-up of the multicentre randomized controlled COMPARE trial. Eur Heart J 2020; 41: 4181-4187. PMID: 32548624 337. 日本循環器学会/ 日本心臓血管外科学会/ 日本胸部外科学会/ 日本血管外科学会.2020 年改訂版 大動脈瘤・大動脈解離診療ガイドライン.https://www.j-circ.or.jp/cms/wp-content/uploads/2020/07/ JCS2020_Ogino.pdf 338. 日本循環器学会/ 日本産科婦人科学会.心疾患患者の妊娠・出産の適応,管理に関するガイドライン(2018 年改訂版).2019; 63-65. https://www.j-circ.or.jp/cms/wp-content/uploads/ 2020/ 02/ JCS2018_akagi_ikeda.pdf 339. Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005; 37: 275-281. PMID: 15731757 340. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-β receptor. N Engl J Med 2006; 355: 788-798. PMID: 16928994 341. Mizuguchi T, Collod-Beroud G, Akiyama T, et al. Heterozygous TGFBR 2 mutations in Marfan syndrome. Nat Genet 2004; 36: 855-860. PMID: 15235604 342. Boileau C, Guo DC, Hanna N, et al. TGFB 2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet 2012; 44: 916-921. PMID: 22772371 343. Bertoli-Avella AM, Gillis E, Morisaki H, et al. Mutations in a TGF- β ligand, TGFB 3, cause syndromic aortic aneurysms and dissections. J Am Coll Cardiol 2015; 65: 1324- 1336. PMID: 25835445 344. van de Laar IM, Oldenburg RA, Pals G, et al. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet 2011; 43: 121- 126. PMID: 21217753 345. Meester JAN, Verstraeten A, Schepers D, et al. Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. Ann Cardiothorac Surg 2017; 6: 582-594. PMID: 29270370 346. Meester JA, Vandeweyer G, Pintelon I, et al. Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections. Genet Med 2017; 19: 386-395. PMID: 27632686 347. Ziganshin BA, Bailey AE, Coons C, et al. Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting. Ann Thorac Surg 2015; 100: 1604-1611. PMID: 26188975 348. Morisaki T, Morisaki H. Genetics of hereditary large vessel diseases. J Hum Genet 2016; 61: 21-26. PMID: 26446364 349. Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 2017; 175: 8-26. PMID: 28306229 350. Malfait F, Castori M, Francomano CA, et al. The Ehlers-Danlos syndromes. Nat Rev Dis Primers 2020; 6: 64. PMID: 32732924 351. 山口智美,古庄知己.Marfan 症候群と類縁疾患のPrecision Medicine.医学のあゆみ 2017; 264: 227-233. 352. Byers PH, Belmont J, Black J, et al. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet 2017; 175: 40-47. PMID: 28306228 353. Byers PH. Vascular Ehlers-Danlos Syndrome. GeneReviews ®. 1999 Sep 2 [updated 2019 Feb 21]. https://www.ncbi.nlm.nih.gov/ books/NBK1494/ 354. D’hondt S, Van Damme T, Malfait F. Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review. Genet Med 2018; 20: 562-573. PMID: 28981071 355. Minatogawa M, Unzaki A, Morisaki H, et al. Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). J Med Genet 2022; 59: 865-877. PMID: 34815299 356. Pepin M, Schwarze U, Superti-Furga A, et al. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 2000; 342: 673-680. PMID: 10706896 357. Leistritz DF, Pepin MG, Schwarze U, et al. COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy. Genet Med 2011; 13: 717-722. PMID: 21637106 358. Pepin MG, Schwarze U, Rice KM, et al. Survival is affected by mutation type and molecular mechanism in vascular Ehlers- Danlos syndrome (EDS type IV). Genet Med 2014; 16: 881-888. PMID: 24922459 359. Frank M, Albuisson J, Ranque B, et al. The type of variants at the COL 3A 1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. Eur J Hum Genet 2015; 23: 1657-1664. PMID: 25758994 360. Malfait F, Wenstrup R, De Paepe A. Classic Ehlers-Danlos Syndrome. GeneReviews

®. 2007 May 29 [updated 2018 Jul 26]. https://www.ncbi.nlm.nih.gov/books/NBK1244/ 361. Levy HP. Hypermobile Ehlers-Danlos Syndrome. GeneReviews ®. 2004 Oct 22 [updated 2018 Jun 21]. https://www.ncbi.nlm.nih. gov/books/NBK1279/ 362. Frank M, Adham S, Seigle S, et al. Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study. J Am Coll Cardiol 2019; 73: 1948-1957. PMID: 30999998 363. Baderkhan H, Wanhainen A, Stenborg A, et al. Celiprolol Treatment in Patients with Vascular Ehlers-Danlos Syndrome. Eur J Vasc Endovasc Surg 2021; 61: 326-331. PMID: 33223285 364. Ong KT, Perdu J, De Backer J, et al. Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial. Lancet 2010; 376: 1476-1484. PMID: 20825986 365. Albornoz G, Coady MA, Roberts M, et al. Familial thoracic aortic aneurysms and dissections Incidence, modes of inheritance, and phenotypic patterns. Ann Thorac Surg 2006; 82: 1400- 1405. PMID: 16996941 366. Milewicz DM, Guo DC, Tran-Fadulu V, et al. Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction. Annu Rev Genomics Hum Genet 2008; 9: 283-302. PMID: 18544034 367. Isselbacher EM, Preventza O, Hamilton Black J 3rd, et al. 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation 2022; 146: e334-e482. PMID: 36322642 368. Biddinger A, Rocklin M, Coselli J, et al. Familial thoracic aortic dilatations and dissections: A case control study. J Vasc Surg 1997; 25: 506-511. PMID: 9081132 369. Coady MA, Davies RR, Roberts M, et al. Familial patterns of thoracic aortic aneurysms. Arch Surg 1999; 134: 361-367. PMID: 10199307 370. Renard M, Francis C, Ghosh R, et al. Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection. J Am Coll Cardiol 2018; 72: 605-615. PMID: 30071989 371. Wolford BN, Hornsby WE, Guo D, et al. Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection. Circ Genom Precis Med 2019; 12: e 002476. PMID: 31211624 372. Milewicz DM, Guo D, Hostetler E, et al. Update on the genetic risk for thoracic aortic aneurysms and acute aortic dissections: implications for clinical care. J Cardiovasc Surg (Torino) 2021; 62: 203-210. PMID: 33736427 373. Wallace SE, Regalado ES, Gong L, et al. MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants. Genet Med 2019; 21: 144-151. PMID: 29925964 374. Regalado ES, Guo DC, Prakash S, et al. Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. Circ Cardiovasc Genet 2015; 8: 457-464. PMID: 25759435 375. Guo DC, Regalado E, Casteel DE, et al. Recurrent gain-of-function