Increased aortic stiffness in glycogenosis type 2 (Pompe's disease).
Nemes A, Soliman OI, Geleijnse ML, Anwar AM, van der Beek NA, van Doorn PA, Gavallér H, Csajbók E, ten Cate FJ
International journal of cardiology, 2007 Aug 09
Abstract
Pompe's disease, also known as acid maltase deficiency or glycogen storage disease type II, is an autosomal recessive disorder in which deficient activity of the enzyme acid alpha-glucosidase causes intra-lysosomal accumulation of glycogen in muscle and other tissues. The current study was designed to assess aortic stiffness index (beta), as a characteristic of aortic elasticity during transthoracic echocardiography in patients with Pompe's disease.