S1.4 Cardiovascular involvement in Pompedisease.

The heart is part of the clinical phenotype of Glycogen storage disease type II (GDS II; Pompe disease; or acid maltase deficiency) since its original description. In 1932, Johannes Pompe, a Dutch pathologist, described the case of a 7-month old infant who died suddenly for a severe idiopathic hypertrophy of the heart (1). Although other cases of massive hypertrophy of the heart have previously been described, Dr. Pompe first demonstrated that not only the heart was involved, but also other organs showed a vacuolar storage of glycogen ("cardiomegalia glycogenica") (1). From a cardiologist's point of view, Pompe disease is one of the leading cause of familial (idiopathic) hypertrophic cardiomyopathy in neonatal and paediatric age (2). GSD II is broadly divided into two onset forms based on the age symptoms occur.