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4/22/2021 12:14:42 PM | Browse: 291 | Download: 619
Publication Name World Journal of Clinical Cases
Manuscript ID 60110
Country China
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
Publish the Manuscript Online
2021-04-22 12:14
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.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
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
ORCID
Author(s) ORCID Number
Jian Wu http://orcid.org/0000-0002-3439-7435
Yuan Yuan http://orcid.org/0000-0003-3302-9726
Xin Wang http://orcid.org/0000-0002-2937-0625
Dong-Ying Shao http://orcid.org/0000-0002-9307-9939
Li-Guo Liu http://orcid.org/0000-0001-7344-5201
Jian He http://orcid.org/0000-0002-7891-4182
Peng Li http://orcid.org/0000-0002-6060-0089
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.
Publish Date 2021-04-22 12:14
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
URL https://www.wjgnet.com/2307-8960/full/v9/i13/3079.htm
DOI https://dx.doi.org/10.12998/wjcc.v9.i13.3079
Full Article (PDF) WJCC-9-3079.pdf
Full Article (Word) WJCC-9-3079.docx
CARE Checklist–2016 60110-CARE-Checklist–2016-revision.pdf
Manuscript File 60110_Auto_Edited_LM_WangTQ.docx
Answering Reviewers 60110-Answering reviewers.pdf
Audio Core Tip 60110-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 60110-Conflict-of-interest statement.pdf
Copyright License Agreement 60110-Copyright license agreement.pdf
Signed Informed Consent Form(s) or Document(s) 60110-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 60110-Language certificate.pdf
Video 60110-Video.mp4
Peer-review Report 60110-Peer-review(s).pdf
Scientific Misconduct Check 60110-Bing-Wang JL-1.jpg
Scientific Misconduct Check 60110-Bing-Fan JR-2.png
Scientific Misconduct Check 60110-Scientific misconduct check.pdf
Scientific Editor Work List 60110-Scientific editor work list.pdf