Pompe’s disease is a type II glycogen storage disorder resulting from deficiency of α-1,4 glucosidase. It is usually associated with dilated or hypertrophic cardiomyopathy. Association of apical hypertrophic cardiomyopathy is rarely seen. We present a case of a ten-month-old baby with clinical features of both apical hypertrophic cardiomyopathy and Pompe’s disease.
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SwarrDTKaufmanBFogelMAFinkelRGaneshJ. Unusual cardiac “masses” in a newborn with infantile pompe disease. JIMD Rep. 2012;5:17–20.
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VhienYHLeeNCThurbergBL. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics. 2009;124(6):e1116–e1125.
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CaglarIVuralAUnganIUgurlucanMKarakayaO. Apical hypertrophic cardiomyopathy —case report and review of the literature. Georgian Med News. 2013;(216):19–23.
