ADVANCED ULTRASOUND IN DIAGNOSIS AND THERAPY >

2021 , Vol. 5 >Issue 3: 249 - 253

DOI: https://doi.org/10.37015/AUDT.2021.200070

Case Reports

Echocardiography of Marfan's Syndrome Patient with New Gene Mutation of FBN1 with 13-year Follow-up

  • Xu, MS Jianping ,
  • Cui, MS Faping ,
  • Dou, MS Shuixiu ,
  • Ou, MD Jiafu
Expand
  • aDepartment of Ultrasound, The First Hospital of Shanxi Medical University, Taiyuan, Shanxi, China
    bDepartment of Radiology, The 985 Hospital of PLA, Taiyuan, Shanxi, China
    cUltrasonic Diagnostic Center, Shaanxi Provincial People's Hospital, Xian, Shanxi, China
    dCardiology Division, Department of Internal Medicine, Washington University in St. Louis, St. Louis, MO, USA

Received date: 2020-11-26

  Revised date: 2021-04-10

  Online published: 2021-08-31

Fold

Abstract

A case of Marfan syndrome was followed up by echocardiography for 13 years to observe the evolution of cardiovascular disease. The initial cardiovascular manifestations of this patient were "mitral myxoid degeneration, chordal rupture, leaflet prolapse, and massive regurgitation". Subsequently, after several years of development, the aortic sinus and ascending aortic aneurysm dilatation appeared and a new gene mutation site G4331A of FBN1 was found by genetic testing in this patient. Whether the new gene mutation site is related to the initial manifestation of the patient's cardiovascular disease with "mitral valve disease" remains to be further verified.

Key words： Echocardiography; Marfan syndrome; FBN1 genes; New mutation

Cite this article

Xu, MS Jianping , Cui, MS Faping , Dou, MS Shuixiu , Ou, MD Jiafu . Echocardiography of Marfan's Syndrome Patient with New Gene Mutation of FBN1 with 13-year Follow-up[J]. ADVANCED ULTRASOUND IN DIAGNOSIS AND THERAPY, 2021 , 5(3) : 249 -253 . DOI: 10.37015/AUDT.2021.200070

References

[1] Gritti A, Pisano S, Catone G, Iuliano R, Salvati T, Gritti P. Psychiatric and neuropsychological issues in Marfan syndrome: A critical review of the literature. Int J Psychiatry Med 2015; 50:347-360.
[2] Shuqin L, Dingyin Z. Cardiovascular changes in 26 cases of Marfan's syndrome. Chinese Journal of Practical Internal Medicine 1992, 12:78-79.
[3] Reyes-Hernández OD, Palacios-Reyes C, Chávez-Ocaña S, Cortés-Malagón EM, Alonso-Themann PG, Ramos-Cano V, et al. Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review. BMC Musculoskelet Disord 2016; 17:79.
[4] Aubart M, Gross MS, Hanna N, Zabot MT, Sznajder M, Detaint D. The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele. Hum Mol Genet 2015; 24:2764-2770.
[5] Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352:337-339.
[6] Wenjiao X, Xue G, Hong G. Screening for pathogenic genes in a family of Marfan syndrome. International Eye Science 2016, 16:948-951.
[7] Ying B, Ning L, Quancheng K, Jun Y, Qinghua W, Zhenhua Z, et al. Analysis of FBN1 pathogenic gene mutations in a family of Marfan syndrome and prenatal diagnosis. National Medical Journal of China 2015, 95:145-146.
[8] Faivre L, Collod-Beroud G, Callewaert B, Child A, Loeys BL, Binquet C, et al. Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. Am J Med Genet A 2009 ; 149:854-860.
[9] Xiangqun J, Zhi X, Liqiong W. Clinical features of Marfan syndrome and analysis of FBN1 gene mutation. Journal of Clinical Pediatrics 2016, 34:775-778.
[10] Schrijver I, Liu W, Brenn T, Furthmayr H, Francke U. Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. Am J Hum Genet 1999; 65:1007-1020.
[11] Reinhardt DP, Ono RN, Sakai LY. Calcium stabilizes fibrillin-1 against proteolytic degradation. J Biol Chem 1997; 272:1231-1236.
[12] Downing AK, Knott V, Werner JM, Cardy CM, Campbell ID, Handford PA. Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders. Cell 1996; 85:597-605.
[13] Beighton P, de Paepe A, Danks D, Finidori G, Gedde-Dahl T, Goodman R, et al. International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet , 1988; 29:581-594.
[14] De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996; 62:417-426.
[15] Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010; 47:476-485.
Options
Outlines

/

〈 〉

Content
For Authors
For Reviewers
Article Category
Publisher Policies
About
Top 10 Rankings

Share: WeChat

Copyright ©2018 Advanced Ultrasound in Diagnosis and Therapy

|

Creative Commons License Advanced Ultrasound in Diagnosis and Therapy (AUDT)  is licensed under a Creative Commons Attribution 4.0 International License.