Expanding the clinical spectrum of late-onset Pompe disease: Dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered

Aneurysmal dilatation of the thoracic aorta is an underreported vascular complication of LOPD, probably due to the same pathological process that occurs in the brain. Chest X-ray together with echocardiography should be incorporated as initial screening tools for aortic aneurysms in patients with LOPD. When ectasia is suspected, or the ascending aorta is not visualized, contrast- mediated thoracic CT or MRA may be necessary. Large-scale studies are warranted to determine the prevalence and extent of aortic vascular involvement.