Chagasic cardiomyopathy and Pompe disease: case report

摘要

Background: Pompe disease is a lysosomal storage disease with an autosomal recessive inheritance characterized by an insufficient activity of the acid alpha-glucosidase enzyme. The incidence varies from 1:40000 to 1:200000 live births and cardiac involvement in adults is rare. Chagas disease is an infection caused by the protozoan Trypanosoma cruzi, in which one-third of the cases progress to the chronic form, and may lead to cardiac involvement, usually from the fifth decade of life onwards. We report a case of a patient with Chagas and Pompe diseases who had early cardiac involvement and rapid evolution to heart failure. Case report: A 43-year-old male patient with a history of ischemic stroke at 28 years with gait ataxia sequelae. A few years after the episode, he experienced gait impairment and difficulty climbing stairs, attributed to stroke. A family screening for Pompe disease was carried out years later, and thus the diagnosis was made. As for Chagas disease, the investigation was performed because the patient lives in an endemic area. The cardiovascular physical examination did not show significant changes. The electrocardiogram showed sinus rhythm with left bundle branch block and first-degree atrioventricular block; the transthoracic echocardiogram demonstrated left ventricular systolic dysfunction; the Holter monitoring showed several episodes of ventricular tachycardia. The patient is undergoing optimized treatment for heart failure and enzyme replacement therapy for Pompe disease. Conclusion: Cardiomyopathy with early onset and with rapid evolution suggests overlap of the two diseases.