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


Journal Article

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 5 females with late-onset Pompe disease. One patient had a bicuspid aortic valve and developed dissection. Another patient with juvenile onset disease had both thoracic and basilar artery aneurysms. CONCLUSIONS: 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.

Full Text

Duke Authors

Cited Authors

  • El-Gharbawy, AH; Bhat, G; Murillo, JE; Thurberg, BL; Kampmann, C; Mengel, K-E; Kishnani, PS

Published Date

  • August 2011

Published In

Volume / Issue

  • 103 / 4

Start / End Page

  • 362 - 366

PubMed ID

  • 21605996

Pubmed Central ID

  • 21605996

Electronic International Standard Serial Number (EISSN)

  • 1096-7206

Digital Object Identifier (DOI)

  • 10.1016/j.ymgme.2011.04.009


  • eng

Conference Location

  • United States