1 Du Q, Zhang D, Zhuang Y, et al. The molecular genetics of Marfan syndrome[J]. Int J Med Sci, 2021, 18(13): 2752-2766. PMID: 34220303. PMCID: PMC8241768. DOI: 10.7150/ijms.60685.
2 De Cario R, Sticchi E, Lucarini L, et al. Role of TGFBR1 and TGFBR2 genetic variants in Marfan syndrome[J]. J Vasc Surg, 2018, 68(1): 225-233.e5. PMID: 28847661. DOI: 10.1016/j.jvs.2017.04.071.
3 Bitterman AD, Sponseller PD. Marfan syndrome: a clinical update[J]. J Am Acad Orthop Surg, 2017, 25(9): 603-609. PMID: 28837453. DOI: 10.5435/JAAOS-D-16-00143.
4 Arnaud P, Milleron O, Hanna N, et al. Clinical relevance of genotype-phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants[J]. Genet Med, 2021, 23(7): 1296-1304. PMID: 33731877. PMCID: PMC8257477. DOI: 10.1038/s41436-021-01132-x.
5 Stengl R, ágg B, Pólos M, et al. Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype-phenotype correlations in improving risk stratification—a literature review[J]. Orphanet J Rare Dis, 2021, 16(1): 245. PMID: 34059089. PMCID: PMC8165977. DOI: 10.1186/s13023-021-01882-6.
6 Coelho SG, Almeida AG. Marfan syndrome revisited: from genetics to the clinic[J]. Rev Port Cardiol (Engl Ed), 2020, 39(4): 215-226. PMID: 32439107. DOI: 10.1016/j.repc.2019.09.008.
7 Tognato E, Perona A, Aronica A, et al. Neonatal Marfan syndrome[J]. Am J Perinatol, 2019, 36(S 02): S74-S76. PMID: 31238364. DOI: 10.1055/s-0039-1691770.
8 van Andel MM, Groenink M, van den Berg MP, et al. Genome-wide methylation patterns in Marfan syndrome[J]. Clin Epigenetics, 2021, 13(1): 217. PMID: 34895303. PMCID: PMC8665617. DOI: 10.1186/s13148-021-01204-4.
9 Cavinato C, Chen M, Weiss D, et al. Progressive microstructural deterioration dictates evolving biomechanical dysfunction in the Marfan aorta[J]. Front Cardiovasc Med, 2021, 8: 800730. PMID: 34977201. PMCID: PMC8716484. DOI: 10.3389/fcvm.2021.800730.
10 Magotteaux S, Bulk S, Farhat N, et al. Marfan syndrome in childhood and adolescence[J]. Rev Med Liege, 2016, 71(7-8): 342-348. PMID: 28383843.
11 Laganà G, Palmacci D, Ruvolo G, et al. 3D evaluation of maxillary morphology in Marfan growing subjects: a controlled clinical study[J]. Prog Orthod, 2019, 20(1): 12. PMID: 30880370. PMCID: PMC6421354. DOI: 10.1186/s40510-019-0264-2.
12 Veldhoen S, Stark V, Mueller GC, et al. Pediatric patients with Marfan syndrome: frequency of dural ectasia and its correlation with common cardiovascular manifestations[J]. Rofo, 2014, 186(1): 61-66. PMID: 24043612. DOI: 10.1055/s-0033-1350421.
13 付煜玮, 刘晓伟, 孙琳, 等. 超声心动图诊断儿童马凡综合征[J]. 中国医学影像技术, 2018, 34(8): 1202-1206. DOI: 10.13929/j.1003-3289.201801067.
14 Kawamura J, Ueno K, Kawano Y. Neonatal Marfan syndrome with missense variant of c.3706T>C undergoing bilateral atrioventricular valve replacement[J]. Cardiol Young, 2022, 22(5): 833-836. PMID: 34526162. DOI: 10.1017/S1047951121003905.
15 Yang H, Ma Y, Luo M, et al. Identification of gross deletions in FBN1 gene by MLPA[J]. Hum Genomics, 2018, 12(1): 46. PMID: 30286810. PMCID: PMC6172713. DOI: 10.1186/s40246-018-0178-y.
16 Cui JZ, Harris KC, Raedschelders K, et al. Aortic dimensions, biophysical properties, and plasma biomarkers in children and adults with Marfan or Loeys-Dietz syndrome[J]. CJC Open, 2020, 3(5): 585-594. PMID: 34027363. PMCID: PMC8134910. DOI: 10.1016/j.cjco.2020.12.018.
17 Willis BR, Lee M, Rethanavelu K, et al. A case of G1013R FBN1 mutation: a potential genotype-phenotype correlation in severe Marfan syndrome[J]. Am J Med Genet A, 2020, 182(6): 1329-1335. PMID: 32198975. DOI: 10.1002/ajmg.a.61567.
18 Pees C, Michel-Behnke I, Hagl M, et al. Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations[J]. Clin Genet, 2014, 86(6): 552-557. PMID: 24199744. DOI: 10.1111/cge.12314.
19 Radonic T, de Witte P, Groenink M, et al. Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome[J]. Clin Genet, 2011, 80(4): 346-353. PMID: 21332468. DOI: 10.1111/j.1399-0004.2011.01646.x.
20 Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome[J]. J Med Genet, 2010, 47(7): 476-485. PMID: 20591885. DOI: 10.1136/jmg.2009.072785.
21 Salik I, Rawla P. Marfan syndrome[M]. Treasure Island (FL): Stat Pearls Publishing, 2022.
22 Chiu HH. An update of medical care in Marfan syndrome[J]. Tzu Chi Med J, 2022, 34(1): 44-48. PMID: 35233355. PMCID: PMC8830539. DOI: 10.4103/tcmj.tcmj_95_20.
23 Koo HK, Lawrence KA, Musini VM. Beta-blockers for preventing aortic dissection in Marfan syndrome[J]. Cochrane Database Syst Rev, 2017, 11(11): CD011103. PMID: 29110304. PMCID: PMC6486285. DOI: 10.1002/14651858.CD011103.pub2.
24 Wang Z, Deng X, Kang X, et al. Angiotensin receptor blockers vs. beta-blocker therapy for Marfan syndrome: a systematic review and meta-analysis[J]. Ann Vasc Surg, 2022, 82: 347-361. PMID: 34998935. DOI: 10.1016/j.avsg.2021.12.073.
25 Singh MN, Lacro RV. Recent clinical drug trials evidence in Marfan syndrome and clinical implications[J]. Can J Cardiol, 2016, 32(1): 66-77. PMID: 26724512. DOI: 10.1016/j.cjca.2015.11.003.
26 Kang YN, Chi SC, Wu MH, et al. The effects of losartan versus beta-blockers on cardiovascular protection in Marfan syndrome: a systematic review and meta-analysis[J]. J Formos Med Assoc, 2020, 119(1 Pt 1): 182-190. PMID: 31003918. DOI: 10.1016/j.jfma.2019.03.018.
27 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[J]. Eur Heart J, 2020, 41(43): 4181-4187. PMID: 32548624. PMCID: PMC7711887. DOI: 10.1093/eurheartj/ehaa377.
28 Deleeuw V, De Clercq A, De Backer J, et al. An overview of investigational and experimental drug treatment strategies for Marfan syndrome[J]. J Exp Pharmacol, 2021, 13: 755-779. PMID: 34408505. PMCID: PMC8366784. DOI: 10.2147/JEP.S265271.
29 Lindsay ME. Medical management of aortic disease in children with Marfan syndrome[J]. Curr Opin Pediatr, 2018, 30(5): 639-644. PMID: 30036202. DOI: 10.1097/MOP.0000000000000671.
30 Zeigler SM, Sloan B, Jones JA. Pathophysiology and pathogenesis of Marfan syndrome[J]. Adv Exp Med Biol, 2021, 1348: 185-206. PMID: 34807420. PMCID: PMC8915437. DOI: 10.1007/978-3-030-80614-9_8.
31 Lin M, Zhao S, Liu G, et al. Identification of novel FBN1 variations implicated in congenital scoliosis[J]. J Hum Genet, 2020, 65(3): 221-230. PMID: 31827250. PMCID: PMC6983459. DOI: 10.1038/s10038-019-0698-x.
32 Hofmann Bowman MA, Eagle KA, Milewicz DM. Update on clinical trials of losartan with and without β-blockers to block aneurysm growth in patients with Marfan syndrome: a review[J]. JAMA Cardiol, 2019, 4(7): 702-707. PMID: 31066871. DOI: 10.1001/jamacardio.2019.1176.
33 Ornelas-Casillas MA, García-Arias MR. Aortic dissection after Bentall and Bono surgery[J]. Arch Cardiol Mex, 2022, 92(1): 116-117. PMID: 34987238. PMCID: PMC8771043. DOI: 10.24875/ACM.20000514.
34 Castellano JM, Silvay G, Castillo JG. Marfan syndrome: clinical, surgical, and anesthetic considerations[J]. Semin Cardiothorac Vasc Anesth, 2014, 18(3): 260-271. PMID: 24311526. DOI: 10.1177/1089253213513842.
35 Stark VC, Huemmer M, Olfe J, et al. The pulmonary artery in pediatric patients with Marfan syndrome: an underestimated aspect of the disease[J]. Pediatr Cardiol, 2018, 39(6): 1194-1199. PMID: 29696429. DOI: 10.1007/s00246-018-1880-1.
36 Dietz H. FBN1-related Marfan syndrome[M]. Seattle (WA): University of Washington, Seattle, 2001.
37 Sahay P, Maharana PK, Shaikh N, et al. Intra-lenticular lens aspiration in paediatric cases with anterior dislocation of lens[J]. Eye (Lond), 2019, 33(9): 1411-1417. PMID: 30944461. PMCID: PMC7002720. DOI: 10.1038/s41433-019-0426-y.
38 Lumban Tobing SDA, Akbar DL. Challenges and experiences in correcting scoliosis of a patient with Marfan syndrome: a case report[J]. Int J Surg Case Rep, 2020, 76: 85-89. PMID: 33017740. PMCID: PMC7533313. DOI: 10.1016/j.ijscr.2020.09.166.
39 Rava A, Dema E, Palmisani M, et al. Sublaminar fixation versus hooks and pedicle screws in scoliosis surgery for Marfan syndrome[J]. J Craniovertebr Junction Spine, 2020, 11(1): 26-30. PMID: 32549709. PMCID: PMC7274359. DOI: 10.4103/jcvjs.JCVJS_12_20.
40 Wang X, Sun L, Liu XW, et al. Prenatal diagnosis of Marfan syndrome by fetal echocardiography: a case report and review of cardiovascular manifestations[J]. Echocardiography, 2020, 37(2): 359-362. PMID: 31879971. DOI: 10.1111/echo.14577.
41 Veiga-Fernández A, Joigneau Prieto L, álvarez T, et al. Perinatal diagnosis and management of early-onset Marfan syndrome: case report and systematic review[J]. J Matern Fetal Neonatal Med, 2020, 33(14): 2493-2504. PMID: 30652519. DOI: 10.1080/14767058.2018.1552935.
42 Wang S, Niu Z, Wang H, et al. De novo paternal FBN1 mutation detected in embryos before implantation[J]. Med Sci Monit, 2017, 23: 3136-3146. PMID: 28650953. PMCID: PMC5498129. DOI: 10.12659/msm.904546.
43 Li C, Zhou F, Tan J, et al. Application of single-sperm sequencing in a male with Marfan syndrome: a case report and a literature review[J]. J Genet, 2021, 100: 22. PMID: 34057151.
44 Chen S, Fei H, Zhang J, et al. Classification and interpretation for 11 FBN1 variants responsible for Marfan syndrome and pre-implantation genetic testing (PGT) for two families successfully blocked transmission of the pathogenic mutations[J]. Front Mol Biosci, 2021, 8: 749842. PMID: 34957211. PMCID: PMC8702824. DOI: 10.3389/fmolb.2021.749842.