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Pathology and Pathophysiology

Wens SC, Kuperus E, Mattace-Raso FU et al.

Erasmus University, Rotterdam, The Netherlands.

 J Inherit Metab Dis 2014 Jan 10; Epub ahead of print.

Editor’s note: Pompe disease is caused by a deficiency of acid α-glucosidase, resulting in glycogen accumulation predominantly in skeletal, cardiac, and smooth muscle. The classic infantile phenotype presents during the first month of life and is characterized by progressive hypotonia, hypertrophic myopathy, and respiratory failure, usually leading to death in the first year. In contrast, in the non-classic phenotypes, the predominant characteristic is muscle weakness and, typically, there is no cardiac involvement. However, over the last 2 decades, it has been hypothesized that glycogen accumulation in the vascular smooth muscle can lead to vascular abnormalities, including increased aortic stiffness, in these patients. Aortic stiffness is clinically relevant as it is an independent risk factor for cardiovascular disease and death.

The current authors used carotid–femoral pulse wave velocity (cfPWV), the gold-standard measurement of aortic stiffness, to determine whether this manifestation is a feature of non-classic Pompe disease. A total of 84 patients with non-classic Pompe disease and 179 age- and gender-matched control subjects were evaluated. cfPWV was found to be higher in the Pompe disease patients than in controls (8.8 m/s vs. 7.4 m/s; p<0.001), indicating increased aortic stiffness. This difference remained significant after adjusting for age, gender, mean arterial pressure (MAP), heart rate, and presence of diabetes. The Pompe disease patients were also more likely to have a history of hypertension (36% vs. 20%; p=0.005), and had a higher MAP (100 mmHg vs. 92 mmHg).

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