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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
LIANG Wei-Ling, YE Xiao-Fan, ZHONG Gong, CHEN Jian-Jun, DAI Kang-Lin, CHEUK Ka Leung Daniel, MO Shu, WANG Bo-Shen, LI Chun-Yu, JIANG Xuan-Zhu, XU Zhi-Yuan, ZHOU Li, CHAN Irene, CHEN Jian-Liang, CHU Patrick., LEE Pui Wah Pamela, CHAN Chi Fung Godfrey. Clinical efficacy of combined therapy in children with stage 4 neuroblastoma[J]. CJCP, 2022, 24(7): 759-764.
Shaanxi Province Diagnosis and Treatment Center of Kawasaki Disease/Children's Hospital of Shaanxi ProvincialPeople's Hospital, Children's Hospital of Shanghai Jiao Tong University, Beijing Children's Hospital of Capital MedicalUniversity, Shengjing Hospital of China Medical University, Affiliated Hospital of Yan'an University, Expert Committeeof Advanced Training for Pediatrician, China Maternal and Children's Health Association, General Pediatric Group ofPediatrician Branch of Chinese Medical Doctor Association, Pediatric International Exchange and Cooperation Center,Shanghai Cooperation Organization Hospital Cooperation Alliance, Editorial Board of Chinese Journal ofContemporary Pediatrics. Pediatric expert consensus on the application of aspirin in Kawasaki disease[J]. CJCP, 2022, 24(6): 597-603.