Coronary Artery Dissection in Ehlers Danlos Syndrome

Author: Emily Smith, Arya Mani, Yale University School of Medicine, Department of Internal Medicine, Section of Cardiovascular Medic, New Haven, CT, USA

Background: Coronary artery dissection is a rare complication of pregnancy. The underlying causes of the disorder remain vastly unknown. An association with collagen vascular disease has been described.

Case: A 42 year old woman presented to the emergency department with resting angina two weeks post delivery via caesarian section after she had been diagnosed with placenta previa and acreta. An electrocardiogram revealed a ST-segment elevation in anterior leads and she immediately underwent a left heart catheterization, which did not reveal acute obstructive coronary artery disease. Two days later, she developed similar symptoms in the hospital, which were resistant to medical therapy. Repeat EKG once again revealed ST-elevation in the anterior leads.

Decision-making: The decision was to repeat left heart catheterization, which revealed dissection of the left anterior descendent artery (LAD), with total obstruction of the flow. The lesion was treated with 2 drug eluding stents. Retrospective evaluation of the initial angiography revealed disturbed flow in LAD. Thorough physical examination revealed poor healing of her c-section scar, joint hypermobility, tooth agenesis, and high arched palate, and the patient disclosed history of hip dislocation and easy bruisability. Her mother also reportedly had joint hypermobility and had coronary stent without coronary artery disease. These findings were suggestive of a connective tissue disease, specifically Ehlers Danlos syndrome (EDS). Whole exome sequence was performed and rare variants (frequencies < 0.5%) in two genes encoding connective tissue specific proteins COL5A2 (p. R1106W) and FBN1 (p.A2025S) were identified. In silico analysis predicted the variants to be damaging.

Conclusion: The genetic testing supported the clinical diagnosis of EDS. Patient was advised against future pregnancies and opted for hysterectomy. Coronary dissection is rare in patients with EDS; combined effects of the mutations likely contributed to disease development. This case illustrates the importance of careful physical exam, obtaining family history, and genetic testing in the setting of acute coronary artery syndrome in otherwise healthy individuals.

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