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8/18/2020 2:09:47 AM | Browse: 465 | Download: 741
Publication Name World Journal of Cardiology
Manuscript ID 54472
Country United States
Received
2020-01-31 14:20
Peer-Review Started
2020-01-31 14:20
To Make the First Decision
Return for Revision
2020-04-29 18:48
Revised
2020-06-02 18:14
Second Decision
2020-07-14 03:34
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2020-07-19 21:50
Articles in Press
2020-07-19 21:50
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2020-08-17 04:00
Publish the Manuscript Online
2020-08-18 02:09
ISSN 1949-8462 (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) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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
Category Genetics & Heredity
Manuscript Type Opinion Review
Article Title Classic Ehlers-Danlos syndrome and cardiac transplantation - Is there a connection?
Manuscript Source Unsolicited Manuscript
All Author List Merlin G Butler
ORCID
Author(s) ORCID Number
Merlin G Butler http://orcid.org/0000-0002-2911-0524
Funding Agency and Grant Number
Funding Agency Grant Number
the National Institute of Child Health and Human Development HD02528
Corresponding Author Merlin G Butler, MD, PhD, Professor, Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, 3901 Rainbow Boulevard, MS 4015, Kansas City, KS 66160, United States. mbutler4@kumc.edu
Key Words Ehlers-Danlos syndrome; Next-generation sequencing; Surgical complications; Beighton hypermobility scale; Cardiac failure and transplantation;
Core Tip Ehlers-Danlos syndrome (EDS) consists of a group of connective tissue disorders involving both autosomal dominant and recessive inheritance patterns often involving collagen genes with variants readily detectable using disease-specific gene panels with next-generation sequencing. A 55 year-old male is reported with features of a connective tissue disorder. He had a heart transplant at 43 years of age. He was found to have a COL5A1 gene variant (c:605T7A; p.I1e102Asn) causing classic EDS. He is brought to medical attention for consideration of a genetic cause of cardiac failure including EDS in other patients and complications of surgery which may occur.
Publish Date 2020-08-18 02:09
Citation Butler MG. Classic Ehlers-Danlos syndrome and cardiac transplantation - Is there a connection? World J Cardiol 2020; 12(8): 368-372
URL https://www.wjgnet.com/1949-8462/full/v12/i8/368.htm
DOI https://dx.doi.org/10.4330/wjc.v12.i8.368
Full Article (PDF) WJC-12-368.pdf
Full Article (Word) WJC-12-368.docx
Manuscript File 54472-Review.docx
Answering Reviewers 54472-Answering reviewers.pdf
Audio Core Tip 54472-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 54472-Conflict-of-interest statement.pdf
Copyright License Agreement 54472-Copyright license agreement.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 54472-Grant application form(s).pdf
Peer-review Report 54472-Peer-review(s).pdf
Scientific Misconduct Check 54472-Scientific misconduct check.pdf
Scientific Editor Work List 54472-Scientific editor work list.pdf