SHM Converge Scientific Abstract ePoster Gallery-Spotting the Zebra by Its Stretch

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This case highlights vascular Ehlers-Danlos syndrome (vEDS), a rare hereditary connective tissue disorder caused by collagen abnormalities, most often involving COL3A1 mutations. vEDS primarily affects blood vessels and can present with complications such as aneurysms, dissections, dysautonomia, and cardiac arrhythmias. Because the condition is uncommon and potentially life-threatening, early recognition and multidisciplinary care are essential. Differential diagnoses include other connective tissue disorders such as Loeys-Dietz syndrome and Marfan syndrome.<br /><br />The patient was a 36-year-old woman with a history of postural orthostatic tachycardia syndrome (PoTS), seizure disorder, and a previously treated left internal carotid artery aneurysm. She presented with syncope and experienced recurrent brief episodes associated with hypotension and bradycardia, severe enough to require a code blue response and ICU care with vasopressor support. After consultation among cardiology, neurology, and rheumatology, she was diagnosed with vascular EDS with autonomic dysfunction.<br /><br />Her exam showed features supportive of a connective tissue disorder, including joint hypermobility (Beighton score 5/9), atrophic scars, hyperelastic skin, blue sclera, and scoliosis. Workup was otherwise largely unremarkable, with normal autoimmune testing and protein studies. She improved clinically with midodrine and fludrocortisone, along with supportive measures such as increased hydration and compression stockings. She was discharged with follow-up plans for cardiology, rheumatology, and genetic testing for an EDS panel.<br /><br />Overall, the case emphasizes the importance of suspecting vEDS in patients with unexplained vascular events or dysautonomia, since prompt diagnosis can guide monitoring, risk reduction, and supportive treatment.

Asset Subtitle

Vineet Gupta

Meta Tag

Author List Deepak Asudani, Faizah Shareef, Reid Sasaki, Vineet Gupta

Category Clinical Vignettes

Concept Vascular Ehlers-Danlos Syndrome

Concept COL3A1 Mutation

Concept Aneurysm

Concept Arterial Dissection

Concept Hypermobility

Distinguished Non-Finalist

Presenter Organization University of California, San Diego (UCSD)

Presenting Author Vineet Gupta

Track Adult

Keywords

vascular Ehlers-Danlos syndrome

vEDS

COL3A1 mutation

connective tissue disorder

aneurysm

dysautonomia

postural orthostatic tachycardia syndrome

autonomic dysfunction

joint hypermobility

genetic testing

Vascular Ehlers-Danlos Syndrome

COL3A1 Mutation

Aneurysm

Arterial Dissection

Hypermobility