BPG is committed to discovery and dissemination of knowledge
Articles in Press
2/26/2021 4:29:43 PM | Browse: 98 | Download: 279
Publication Name World Journal of Clinical Cases
Manuscript ID 60110
Country/Territory China
Category Respiratory System
Manuscript Type Case Report
Article Title Pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia and family gene analysis: A case report
Manuscript Source Unsolicited Manuscript
All Author List Jian Wu, Yuan Yuan, Xin Wang, Dong-Ying Shao, Li-Guo Liu, Jian He and Peng Li
Funding Agency and Grant Number
Corresponding Author Peng Li, MD, PhD, Attending Doctor, Department of Pulmonary and Critical Care Medicine, Shengjing Hospital of China Medical University, No. 36 Sanhao Street, Heping District, Shenyang 110004, Liaoning Province, China. lipengcmu@163.com
Key Words Hereditary hemorrhagic telangiectasia; Pulmonary arterial hypertension; Activin A receptor-like type 1; Activin receptor-like kinase 1; Arteriovenous malformation; Endothelin receptor antagonist; Case report
Core Tip Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disease, which when associated with pulmonary arterial hypertension (PAH) may result in poor prognosis. As there are many susceptible gene mutations in PAH, there is no clear genetic evidence for HHT with PAH. This is the first report of the activin A receptor-like type 1 c. 1232G>A, p. Arg411Gln mutation in Chinese HHT patients with PAH. The patient's condition improved obviously after ambrisentan treatment, rather than bosentan. The patient and familial HHT diagnosis was made after the proband’s admission with severe PAH and heart failure. This overdue diagnosis reflects insufficient awareness for HHT diagnosis.
Citation Wu J, Yuan Y, Wang X, Shao DY, Liu LG, He J, Li P. Pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia and family gene analysis: A case report. World J Clin Cases 2021; 9(13): 3079-3089
Received
2020-12-22 10:32
Peer-Review Started
2020-12-22 10:32
To Make the First Decision
Return for Revision
2021-01-10 21:26
Revised
2021-01-15 11:09
Second Decision
2021-02-23 03:15
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2021-02-26 16:29
Articles in Press
2021-02-26 16:29
Publication Fee Transferred
Edit the Manuscript by Language Editor
2021-03-12 02:15
Typeset the Manuscript
2021-04-11 22:49
ISSN 2307-8960 (online)
Open Access This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Copyright © The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com