title: Resolution of severe cardiomyopathy in infantile Pompe disease.
abstract: Infantile Pompe disease is a rare inborn error of metabolism characterized by severe hypertrophic cardiomyopathy and generalised hypotonia occurring in infancy. We present a case of an infant with severe hypertrophic cardiomyopathy that resolved after treatment with enzyme replacement therapy.
authors.affiliation: Department of Pediatric Cardiology,Indiana University School of Medicine,Indianapolis,Indiana,United States of America.
authors.forename: John J
authors.initials: JJ
authors.lastname: Parent
authors.affiliation: Department of Pediatric Cardiology,Indiana University School of Medicine,Indianapolis,Indiana,United States of America.
authors.forename: Marcus
authors.initials: M
authors.lastname: Schamberger
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000000981:diagnostic imaging / Q000209:etiology* / Q000503:physiopathology; D004452:Echocardiography; D004562:Electrocardiography; D056947:Enzyme Replacement Therapy / Q000379:methods*; D005260:Female; D005500:Follow-Up Studies; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000628:therapy; D006801:Humans; D007223:Infant; D020127:Recovery of Function; D012720:Severity of Illness Index; D013997:Time Factors; D016277:Ventricular Function, Left / Q000502:physiology*