title: A 12-year-old boy with chest pain and dyspnoea.
abstract: A previously healthy 12-year-old boy presented with chest pain and dyspnoea. ECG (figure 1), echocardiogram (figure 2) and myocardial MRI (figure 3) were performed.Electromyography revealed mild proximal weakness. Blood tests showed creatine kinase 997 UI/L, aspartate transaminase 398 UI/L, alanine transaminase 293 UI/L and lactate deshidrogenase 1730 UI/L. Ophthalmology test showed diffuse loss of pigment in the retinal pigment epithelium. Myocardial biopsy was performed (figure 4). A cardiomyopathy was suspected. LAMP2 gene was sequenced, and a stop mutation was identified.
  
  
  
  What is the most likely diagnosis suggested based on the patient's tests and history? Danon's disease.Fabry's disease.Hypertrophic cardiomyopathy.Noonan's syndrome.Pompe's disease.
authors.affiliation: Department of Pediatric Cardiology, Hospital Universitario La Paz, Madrid, Spain.
authors.forename: Libertad
authors.initials: L
authors.lastname: Latorre Navarro
authors.affiliation: Department of Pediatric Cardiology, Hospital Universitario La Paz, Madrid, Spain.
authors.forename: Luis
authors.initials: L
authors.lastname: García-Guereta Silva
authors.affiliation: Anatomía Patológica, Hospital Universitario La Paz, Madrid, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: Ruíz Bravo-Burguillos
mesh_terms: D000787:Angina Pectoris / Q000209:etiology*; D001706:Biopsy; D002648:Child; D004252:DNA Mutational Analysis; D004417:Dyspnea / Q000209:etiology*; D004452:Echocardiography; D004562:Electrocardiography; D052120:Glycogen Storage Disease Type IIb / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D052119:Lysosomal-Associated Membrane Protein 2 / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D013318:Stroke Volume; D018487:Ventricular Dysfunction, Left / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D016277:Ventricular Function, Left; D020257:Ventricular Remodeling
chemical_list: C497811:LAMP2 protein, human; D052119:Lysosomal-Associated Membrane Protein 2