S1.5 Role of the pulmonologist in the late-onset Pompe disease

Adult-onset acid maltase deficiency may simulate limb-girdle dystrophy and the heart may represent a rare finding. Nevertheless, the cardiac phenotype of adults with GDSII is poorly characterized, so far. Descriptions of heart abnormalities in adults with Pompe disease are sparse. Recently, a relatively large cohort of adults (87 patients, median age 44 years old, 51% males) with Pompe disease have been evaluated (7). A short PR interval was present in 10%, 7% showed a decreased left ventricular systolic function, and 5% had elevated left ventricular mass on echocardiogram. No change in cardiovascular status associated with enzyme replacement therapy (ERT) was observed. Severe vacuolization of vascular smooth muscle with accumulation of glycogen, particularly involving large and small cerebral arteries with aneurysm formation, have previously been reported (8, 9). Gungor D et al. (10) described survival of 268 patients with Pompe diseases, collected in a prospective international observational study conducted between 2002 and 2009. Out of 34 deaths reported, the cause of death was recognized in 9 patients, including 1 patient who died for aortic dissection. The evidence of smooth muscle involvement seem to be confirmed by the finding of an increased aortic stiffness in adults with Pompe disease (11), which may be due to glycogen storage in the vessel wall, causing reduced vascular elasticity. These findings deserve future investigations.