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

Goeber, Volkhard ; Banz, Yara ; Kaeberich, Anja ; Carrel, Thierry

In: European Journal of Cardio-Thoracic Surgery, 2013, vol. 43, no. 1, p. 193-195

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    Titre
    • Huge aneurysm of the ascending aorta in a patient with adult-type Pompe's disease: histological findings mimicking fibrillinopathy
    Auteur
    • Goeber, Volkhard. Department of Cardiovascular Surgery, Inselspital, University Hospital, University of Bern, Bern, Switzerland
    • Banz, Yara. Institute of Pathology, University of Bern, Bern, Switzerland
    • Kaeberich, Anja. Department of Cardiovascular Surgery, Inselspital, University Hospital, University of Bern, Bern, Switzerland
    • Carrel, Thierry. Department of Cardiovascular Surgery, Inselspital, University Hospital, University of Bern, Bern, Switzerland
    Type de document
    • Postprint
    Langue
    • Inglese
    Publié dans
    • European Journal of Cardio-Thoracic Surgery, 2013, vol. 43, no. 1, p. 193-195. Oxford University Press
    Autre version électronique
    Identifiant OAI-PMH
    • oai:doc.rero.ch:294458
    Summary
    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