Cardiac involvement in classical or hypermobile Ehlers-Danlos syndrome is uncommon.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Sharon L PaigeR Thomas Collins

Abstract

Cardiac-valvular and vascular Ehlers-Danlos syndrome (EDS) have significant cardiovascular issues. The prevalence and significance of such abnormalities in classical (cEDS) or hypermobile EDS (hEDS) remain unclear. We report the prevalence of cardiac abnormalities in patients with cEDS and hEDS. We identified 532 pediatric patients with potential EDS evaluated at our institution from January 2014 through April 2019 by retrospective chart review. Ninety-five patients (12 cEDS and 83 hEDS patients) met 2017 EDS diagnostic criteria and had an echocardiogram. One patient was excluded due to complex congenital heart disease, and two were excluded due to lack of images. We reviewed echocardiograms for all structural abnormalities. Of these 95 patients, 1 had mild aortic root dilation, and 1 had mild ascending aorta dilation in the setting of a bicuspid aortic valve. Eleven patients (11.6%) had a cardiac valve abnormality, all of which were trivial to mild. None of the patients required cardiac intervention. Our results demonstrate that aortic dilation and valvular anomalies are uncommon in cEDS or hEDS patients. Given the lack of evidence, we do not recommend echocardiographic evaluation and surveillance in patients with cEDS and hED...Continue Reading

References

Mar 1, 1988·American Journal of Medical Genetics·P BeightonV A McKusick
Feb 1, 1980·Annals of Internal Medicine·C V LeierC F Wooley
Apr 1, 1997·British Journal of Rheumatology·A L DolanR Grahame
Jul 1, 1999·The New England Journal of Medicine·L A FreedE J Benjamin
Feb 13, 2001·Archives of Disease in Childhood·C D van KarnebeekM Offringa
Aug 16, 2002·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Richard J WenstrupClaire A Francomano
Dec 6, 2005·Lancet·Daniel P Judge, Harry C Dietz
Dec 15, 2005·American Journal of Medical Genetics. Part a·Nazli B McDonnellClair A Francomano
Aug 25, 2006·The New England Journal of Medicine·Bart L LoeysHarry C Dietz
Mar 1, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Gretchen MacCarrickHarry C Dietz
Mar 18, 2017·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Fransiska MalfaitBrad Tinkle
Apr 25, 2017·American Journal of Medical Genetics. Part a·Alyssa RitterKathryn Nicole Weaver
Aug 1, 2018·American Journal of Medical Genetics. Part a·Stephanie B AsherStaci Kallish
Jul 23, 2019·Congenital Heart Disease·Kristina K Rauser-FoltzAnji T Yetman
Sep 3, 2019·Biological & Pharmaceutical Bulletin·Kazuo YamadaKen-Ichi Matsumoto

❮ Previous
Next ❯

Citations

Jun 23, 2021·Journal of the American Heart Association·Jordan E MorningstarRussell A Norris

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.