Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 1 de 1
Filter
Add more filters










Database
Language
Publication year range
1.
Heart ; 102(18): 1485, 2016 09 15.
Article in English | MEDLINE | ID: mdl-27146693

ABSTRACT

CLINICAL INTRODUCTION: 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. QUESTION: 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.


Subject(s)
Angina Pectoris/etiology , Dyspnea/etiology , Glycogen Storage Disease Type IIb/complications , Hypertrophy, Left Ventricular/etiology , Ventricular Dysfunction, Left/etiology , Biopsy , Child , DNA Mutational Analysis , Echocardiography , Electrocardiography , Glycogen Storage Disease Type IIb/diagnosis , Glycogen Storage Disease Type IIb/genetics , Humans , Hypertrophy, Left Ventricular/diagnosis , Hypertrophy, Left Ventricular/physiopathology , Lysosomal-Associated Membrane Protein 2/genetics , Magnetic Resonance Imaging , Male , Mutation , Stroke Volume , Ventricular Dysfunction, Left/diagnosis , Ventricular Dysfunction, Left/physiopathology , Ventricular Function, Left , Ventricular Remodeling
SELECTION OF CITATIONS
SEARCH DETAIL
...