马方综合征的最新诊疗进展

杨书婷; 罗芳

doi:10.7499/j.issn.1008-8830.2203099

PDF(521 KB)

HTML

中国当代儿科杂志 ›› 2022, Vol. 24 ›› Issue (7) : 826-831. DOI: 10.7499/j.issn.1008-8830.2203099

综述

马方综合征的最新诊疗进展

杨书婷, 罗芳

作者信息 +

Latest advances in the diagnosis and treatment of Marfan syndrome

YANG Shu-Ting, LUO Fang

Author information +

文章历史 +

摘要

马方综合征是一种常染色体显性遗传的多系统结缔组织疾病，主要由FBN1基因突变所致，临床表现不一，新生儿马方综合征尤其罕见，病情重，预后差。目前，尚无针对马方综合征的根治方法，早发现、早诊断、早治疗可有效延长患者的生存年限。该文就马方综合征的诊疗进展作一综述。

Abstract

Marfan syndrome (MFS) is a multisystem connective tissue disease with autosomal dominant inheritance. It is mainly caused by FBN1 gene mutation and often has different clinical manifestations. Neonatal MFS is especially rare with severe conditions and a poor prognosis. At present, there is still no radical treatment method for MFS, but early identification, early diagnosis, and early treatment can effectively prolong the life span of patients. This article reviews the latest advances in the diagnosis and treatment of MFS.

导出引用

杨书婷, 罗芳. 马方综合征的最新诊疗进展[J]. 中国当代儿科杂志. 2022, 24(7): 826-831 https://doi.org/10.7499/j.issn.1008-8830.2203099

YANG Shu-Ting, LUO Fang. Latest advances in the diagnosis and treatment of Marfan syndrome[J]. Chinese Journal of Contemporary Pediatrics. 2022, 24(7): 826-831 https://doi.org/10.7499/j.issn.1008-8830.2203099

参考文献

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.