Atrial septal aneurysm in a patient with pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE) is a rare heritable disorder of the connective tissue characterized by marked clinical heterogeneity. Common cardiovascular complications of PXE include renovascular hypertension, premature coronary artery disease and calcification of peripheral arteries frequently leading to claudicatio intermittens; fibrous thickening of the endocardium and atrioventricular valves, leading to restrictive cardiomyopathy and/or mitral valve prolapse have been also described. We herein report on a PXE patient who developed an atrial septal aneurysm as a previously undescribed cardiologic manifestation of her disease.