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
Abstract

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders comprised of several types. Classic EDS is an autosomal dominant disorder with stretchable skin, delayed wound healing with poor scarring, joint hypermobility with subluxations or dislocations, easy bruisability, hernias, aneurysms and cardiac abnormalities. Advances in genomics technology using next-generation sequencing has led to the discovery of causative genes for connective tissue disorders, hereditary cardiomyopathies and cardiovascular diseases including several genes for connective tissue disorders. A 55 year-old male exhibited thin stretchable skin, atrophic scars, easy bruising, joint pain and dislocations requiring multiple knee surgeries and a Beighton hyperflexibility score of 6 out of 7. He was found to have a heterozygous missense COL5A1 gene variant involving exon 3 at nucleotide c:305T>A with an amino acid position change at p.lle102Asn consistent with classic EDS. He had a heart transplant at 43 years of age due to cardiac failure of unknown cause. This patient with classic EDS is brought to medical attention and should be of interest to cardiologists, heart transplant specialists and surgeons, particularly in individuals with unexplained cardiac failure and then diagnosed prior to surgical intervention to avoid poor wound healing, scarring and other tissue involvement (e.g., vascular anomalies, blood pressure instability, aneurysms) as components of EDS.

Keywords: 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 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.