A 12-year-old boy with chest pain and dyspnoea

• Published in: Heart (British Cardiac Society) Vol. 102; no. 18; p. 1485
• Main Authors: Latorre Navarro, Libertad, García-Guereta Silva, Luis, Ruíz Bravo-Burguillos, Elena
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 15.09.2016
• Subjects: Angina Pectoris - etiology; Biopsy; Cardiomyopathy; Child; Disease; DNA Mutational Analysis; Dyspnea - etiology; Echocardiography; Electrocardiography; Glycogen Storage Disease Type IIb - complications; Glycogen Storage Disease Type IIb - diagnosis; Glycogen Storage Disease Type IIb - genetics; Humans; Hypertrophy, Left Ventricular - diagnosis; Hypertrophy, Left Ventricular - etiology; Hypertrophy, Left Ventricular - physiopathology; Lysosomal-Associated Membrane Protein 2 - genetics; Magnetic Resonance Imaging; Male; Mutation; Stroke Volume; Ultrasonic imaging; Ventricular Dysfunction, Left - diagnosis; Ventricular Dysfunction, Left - etiology; Ventricular Dysfunction, Left - physiopathology; Ventricular Function, Left; Ventricular Remodeling
• ISSN: 1355-6037; 1468-201X
• DOI: 10.1136/heartjnl-2016-309394

Clinical introductionA 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.QuestionWhat 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.