Literature DB >> 35894201

[Latest advances in the diagnosis and treatment of Marfan syndrome].

Shu-Ting Yang1, Fang Luo1.   

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.

Entities:  

Keywords:  Child; FBN1 gene; Gene mutation; Marfan syndrome; Neonatal Marfan syndrome

Mesh:

Substances:

Year:  2022        PMID: 35894201      PMCID: PMC9336618          DOI: 10.7499/j.issn.1008-8830.2203099

Source DB:  PubMed          Journal:  Zhongguo Dang Dai Er Ke Za Zhi        ISSN: 1008-8830


  42 in total

1.  Intra-lenticular lens aspiration in paediatric cases with anterior dislocation of lens.

Authors:  Pranita Sahay; Prafulla K Maharana; Nawazish Shaikh; Siddhi Goel; Rajesh Sinha; Tushar Agarwal; Namrata Sharma; Jeewan S Titiyal
Journal:  Eye (Lond)       Date:  2019-04-03       Impact factor: 3.775

2.  The revised Ghent nosology for the Marfan syndrome.

Authors:  Bart L Loeys; Harry C Dietz; Alan C Braverman; Bert L Callewaert; Julie De Backer; Richard B Devereux; Yvonne Hilhorst-Hofstee; Guillaume Jondeau; Laurence Faivre; Dianna M Milewicz; Reed E Pyeritz; Paul D Sponseller; Paul Wordsworth; Anne M De Paepe
Journal:  J Med Genet       Date:  2010-07       Impact factor: 6.318

Review 3.  Marfan syndrome revisited: From genetics to the clinic.

Authors:  Sónia Gomes Coelho; Ana G Almeida
Journal:  Rev Port Cardiol (Engl Ed)       Date:  2020-05-18

Review 4.  Update on Clinical Trials of Losartan With and Without β-Blockers to Block Aneurysm Growth in Patients With Marfan Syndrome: A Review.

Authors:  Marion A Hofmann Bowman; Kim A Eagle; Dianna M Milewicz
Journal:  JAMA Cardiol       Date:  2019-07-01       Impact factor: 14.676

5.  Neonatal Marfan syndrome with missense variant of c.3706T>C undergoing bilateral atrioventricular valve replacement.

Authors:  Junpei Kawamura; Kentaro Ueno; Yoshifumi Kawano
Journal:  Cardiol Young       Date:  2021-09-16       Impact factor: 1.093

6.  Aortic dissection after Bentall and Bono surgery.

Authors:  Mario A Ornelas-Casillas; Mario R García-Arias
Journal:  Arch Cardiol Mex       Date:  2022

Review 7.  Prenatal diagnosis of Marfan syndrome by fetal echocardiography: A case report and review of cardiovascular manifestations.

Authors:  Xin Wang; Lin Sun; Xiao-Wei Liu; Jian-Feng Shang; Yi-Hua He
Journal:  Echocardiography       Date:  2019-12-27       Impact factor: 1.724

Review 8.  An update of medical care in Marfan syndrome.

Authors:  Hsin-Hui Chiu
Journal:  Tzu Chi Med J       Date:  2021-09-10

9.  Identification of gross deletions in FBN1 gene by MLPA.

Authors:  Hang Yang; Yanyun Ma; Mingyao Luo; Kun Zhao; Yinhui Zhang; Guoyan Zhu; Xiaogang Sun; Fanyan Luo; Lin Wang; Chang Shu; Zhou Zhou
Journal:  Hum Genomics       Date:  2018-10-04       Impact factor: 4.639

10.  Sublaminar fixation versus hooks and pedicle screws in scoliosis surgery for Marfan syndrome.

Authors:  Alessandro Rava; Eugenio Dema; Matteo Palmisani; Rosa Palmisani; Stefano Cervellati; Massimo Girardo
Journal:  J Craniovertebr Junction Spine       Date:  2020-04-04
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