INHERITED PREDILECTION TO SPONTANEOUS CORONARY ARTERY DISSECTION: A CASE ASSOCIATED WITH ALPK3 MUTATION

Document Type

Conference Proceeding

Publication Date

4-1-2024

Publication Title

J Am Coll Cardiol

Abstract

Background Spontaneous coronary artery dissection (SCAD) is a rare cause of ACS that involves spontaneous separation of the coronary artery walls that is not traumatic or iatrogenic. SCAD results in an intramural hematoma that obstructs the arterial lumen causing myocardial ischemia and infarction. Etiology is multifactorial involving an arteriopathy that is compromised by a pathophysiologic stressor. Young women are more commonly affected. Associations have been drawn with fibromuscular dysplasia, connective tissue disorders, and genetic mutations such as ALPK3. Case A 51-year-old woman with hypertension presented with typical angina. She had no history of CAD, and a Coronary CTA reported a coronary calcium score of zero. HsTnI was 897 ng/L and BNP was 37 pg/mL. Electrocardiogram showed lateral lead ST-segment elevation. Emergent invasive coronary angiography for STEMI demonstrated spontaneous coronary artery dissection of the right posterior descending artery with distal embolization. The coronary arteries were notably tortuous and without atherosclerosis. Echocardiogram revealed an LV EF of 65% with mid-distal apical wall hypokinesis. Decision-making Our was diagnosed with STEMI secondary to SCAD. Coronary artery intervention was not performed. She was medically managed with aspirin, statin, beta-blocker, and angiotensin-converting-enzyme inhibitor therapy with symptom resolution. Further SCAD evaluation was performed with CTA to evaluate for fibromuscular dysplasia which was negative for an arteriopathy. A genetic analysis revealed a significant mutation in the ALPK3 gene which in recent studies has been associated with SCAD. Conclusion We describe a case of SCAD associated with an ALPK3 genetic mutation in the absence of other associations. This highlights the importance of including genetic analysis in the evaluation of patients presenting with SCAD for patients with SCAD to further our understanding of this condition and identify patients who could benefit from monitoring and medical management. Further studies are necessary to assess whether routine genetic screening and vascular imaging of first-degree relatives in gene positive patients is beneficial.

Volume

83

Issue

13

First Page

3387

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