Huge aneurysm of the ascending aorta in a patient with adult-type Pompe's disease: histological findings mimicking fibrillinopathy

Göber, Volkhard; Banz, Yara; Kaeberich, Anja; Carrel, Thierry (2013). Huge aneurysm of the ascending aorta in a patient with adult-type Pompe's disease: histological findings mimicking fibrillinopathy. European journal of cardio-thoracic surgery, 43(1), pp. 193-5. Oxford: Oxford University Press 10.1093/ejcts/ezs489

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Adult-type Pompe's disease (glycogen storage disease type II) has rarely been shown to present with dilatative arteriopathy, suggesting potential smooth muscle involvement in addition to lysosomal glycogen deposits usually restricted to skeletal muscle tissue. We report the case of a middle-aged man under enzyme replacement therapy presenting with an exceedingly large thoracic aortic aneurysm. Surprisingly, the histological work-up of resected aortic tissue revealed changes mimicking those observed in patients with classic connective tissue diseases. Enzyme replacement therapy, in addition to musculoskeletal and pulmonary treatment for patients with Pompe's disease, may prolong survival and lead to patients presenting with vascular alterations that may pose surgical and potential diagnostic challenges in the future.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

04 Faculty of Medicine > Department of Cardiovascular Disorders (DHGE) > Clinic of Cardiovascular Surgery
04 Faculty of Medicine > Service Sector > Institute of Pathology > Clinical Pathology

UniBE Contributor:

Göber, Volkhard; Banz Wälti, Yara and Carrel, Thierry

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1010-7940

Publisher:

Oxford University Press

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:31

Last Modified:

27 Apr 2018 10:26

Publisher DOI:

10.1093/ejcts/ezs489

PubMed ID:

22945242

Web of Science ID:

000312640600052

BORIS DOI:

10.7892/boris.11836

URI:

https://boris.unibe.ch/id/eprint/11836 (FactScience: 218086)

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