JACC Case Rep. 2025 Nov 28:106231. doi: 10.1016/j.jaccas.2025.106231. Online ahead of print.
ABSTRACT
BACKGROUND: Pseudoxanthoma elasticum (PXE) is a rare disease resulting from ABCC6 gene mutations; it causes elastic fiber calcification with unclear arterial stenosis mechanisms.
CASE SUMMARY: A 60-year-old man with PXE developed multivessel coronary stenosis despite low atherosclerotic risk. Coronary computed tomography demonstrated noncalcified stenosis in all vessels, intravascular ultrasound (IVUS) showed concentric high-intensity lesions with mixed acoustic shadowing, and optical coherence tomography (OCT) indicated thin, sheet-like calcifications with low-intensity heterogeneous tissue. Guidance through IVUS/OCT imaging contributed to successful percutaneous coronary intervention.
DISCUSSION: PXE demonstrates stenotic mechanisms distinct from conventional atherosclerosis. Stenosis develops as a result of tissue thickening caused by calcification-induced fragmentation and repair. To our knowledge, no previous reports have evaluated coronary stenosis in PXE using both IVUS and OCT.
TAKE-HOME MESSAGES: Patients with PXE may develop significant coronary stenosis despite low atherosclerotic risk, requiring early cardiovascular evaluation. Combined IVUS/OCT imaging reveal unique stenotic findings resulting from elastic fiber calcification.
PMID:41313296 | DOI:10.1016/j.jaccas.2025.106231