Aneurysmatic dilatation of ascending aorta in a patient with ?-thalassemia and a pseudoxanthoma elasticum-like syndrome

The development of a diffuse elastic tissue defect resembling pseudoxanthoma elasticum (PXE) is a recently established and frequently encountered clinical entity in β-thalassemia. The clinical spectrum of this disorder is not yet completely understood as it is continuously being enriched with novel complications that are often serious. We present here a thalassemia intermedia patient with typical PXE manifestations and a fusiform aneurysmatic dilatation of the ascending thoracic aorta, a previously unknown complication in these patients. An aortic aneurysm has itself a notable morbidity, while it may also impair the particularly susceptible cardiac function of β-thalassemia patients, hence affecting the overall prognosis of the main disease.[PUBLICATION ABSTRACT]