Opinion Review
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Cardiol. Aug 26, 2020; 12(8): 368-372
Published online Aug 26, 2020. doi: 10.4330/wjc.v12.i8.368
Classic Ehlers-Danlos syndrome and cardiac transplantation - Is there a connection?
Merlin G Butler
Merlin G Butler, Departments of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, KS 66160, United States
Author contributions: Butler MG solely contributed to this manuscript.
Supported by the National Institute of Child Health and Human Development, No. HD02528.
Conflict-of-interest statement: The Author declares no conflict of interests for this article.
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/
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
Received: January 31, 2020
Peer-review started: January 31, 2020
First decision: April 29, 2020
Revised: June 5, 2020
Accepted: July 18, 2020
Article in press: July 18, 2020
Published online: August 26, 2020
Processing time: 199 Days and 11.8 Hours
Core Tip

Core tip: Ehlers-Danlos syndrome (EDS) consists of a group of connective tissue disorders involving both autosomal dominant and recessive inheritance patterns often including 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:605T>A; 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.