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

Abstract Purpose Cerebro-vascular arteriopathy has been reported in late-onset Pompe disease (LOPD). Evidence of increased aortic stiffness in some patients and smooth muscle involvement in LOPD raises the possibility of aortic involvement. Our aim was to determine if aortic arteriopathy may be a complication of LOPD. Methods One patient with LOPD was diagnosed with aortic dilatation at Duke Metabolic clinic, 4 others were diagnosed at University of Mainz, Germany, where chest X-ray and echocardiography are routinely done for patients. Other causes of aortic vascular disease were assessed. Results We report evidence of dilated arteriopathy involving primarily the ascending thoracic aorta in…