Pseudoxanthoma elasticum: cardiac findings in patients and Abcc6-deficient mouse model.

Background: Pseudoxanthoma elasticum (PXE), caused by mutations in the ABCC6 gene, is a rare multiorgan disease characterized by the mineralization and fragmentation of elastic fibers in connective tissue. Cardiac complications reportedly associated with PXE are mainly based on case reports.

Methods: A cohort of 67 PXE patients was prospectively assessed.