Pompe's disease: A report of ten cases

Abstract

Pompe's disease is a rare inherited metabolic disorder, which often leads to infantile death from severe cardiomyopathy. This report describes ten infants with clinical findings suggestive of Pompe's disease confirmed by histological investigation. All the infants had presented with cardiopulmonary symptoms. Two dimensional and Doppler echocardiography revealed hypertrophic cardiomyopathy and six of them had left ventricular outflow tract obstruction. We emphasized the importance of echocardiography in the clinical diagnosis of this severe condition.

Publication History

Publication Date:
26 April 2011 (online)