Abstract
A spontaneous coronary artery dissection as the sole presenting feature of vascular Ehlers-Danlos syndrome is an uncommon finding. We present a 33-year-old woman with sudden onset chest pain caused by a spontaneous coronary artery dissection. Genetic testing revealed vascular Ehlers-Danlos syndrome as the underlying cause. Specifically, we show the value of genetic testing, which in some patients may be the only way of establishing a diagnosis.
Highlights
Spontaneous coronary artery dissection (SCAD) is a rare cause of acute coronary syndrome and sudden cardiac death
Genetic testing resulted in the diagnosis of vascular Ehlers-Danlos syndrome. vEDS is an autosomal dominantly inherited connective tissue disorder caused by pathogenic variants in the COL3A1 gene encoding type III procollagen. vEDS patients are at risk for arterial, bowel, and uterine rupture and pneumothorax
This report underlines that SCAD may be the sole presenting feature of vEDS in the absence of other features associated with the disorder
Summary
Spontaneous coronary artery dissection (SCAD) is a rare cause of acute coronary syndrome and sudden cardiac death. Genetic causes include polycystic kidney disease and connective tissue disorders. Establishing a genetic diagnosis allows for disease specific follow up for the patient. Genetic testing resulted in the diagnosis of vascular Ehlers-Danlos syndrome (vEDS).
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
