M.P.2.08 Cardiologic evaluation in adults with Pompe disease shows no signs of cardiomyopathy

Abstract

Pompe disease is an inherited metabolic disorder caused by deficiency of acid α-glucosidase, an indispensable enzyme for the breakdown of lysosomal glycogen. The classic-infantile form of Pompe disease is characterized by hypotonia, poor motor development and cardiorespiratory failure, resulting in death within the first year of life. Massive left ventricular hypertrophy and pre-excitation on ECG is well known in patients with this phenotype. Patients with milder phenotypes usually present in the first to sixth decade of life with a slowly progressive proximal myopathy or, occasionally, with pulmonary distress.