Cardiovascular Manifestations of Pseudoxanthoma Elasticum: Pathophysiology, Management, and Research

Pseudoxanthoma elasticum is a rare genetic disorder characterized by calcification of elastic fibers in the connective tissue. The abundance of elastic tissues at these sites: skin, eyes, and heart make them the most affected systems. It has multifactorial pathogenesis, meaning, it manifests due to both environmental and genetic factors, but ABCC6 gene mutation plays an important role. This gene is responsible for causing defective MRP6 protein which in return is required for cell transport in the connective tissue. The clinical features range from minor skin lesions to fatal cardiovascular complications. Thus, it is important to diagnose it early and give appropriate treatment. This article provides insight into the cardiovascular manifestations of pseudoxanthoma elasticum, its diagnosis and management plans.