Abstract.
Glycogen storage disease confined to the heart due to cardiac phosphorylase kinase deficiency causes a fatal infantile cardiomyopathy. Cardiomegaly can be detected in utero and is progressive. Electrocardiographic and echocardiographic findings are characteristic but not specific; these include large QRS complexes, short PR interval, and a hypertrophic nonobstructive pattern. Conclusive diagnosis requires biochemical analysis of myocardium, which may not be possible premortem due to the amount of tissue required. Pathologic examination of a standard cardiac biopsy can provide a presumptive diagnosis. There is no current treatment except a heart transplant. Infants succumb to heart failure and/or respiratory compromise due to pulmonary compression. This is a rare entity; only three cases have been reported to our knowledge. We report two additional cases.
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Regalado, J., Rodriguez, M. & Ferrer, P. Infantile Hypertrophic Cardiomyopathy of Glycogenosis Type IX: Isolated Cardiac Phosphorylase Kinase Deficiency. Pediatr Cardiol 20, 304–307 (1999). https://doi.org/10.1007/s002469900471
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DOI: https://doi.org/10.1007/s002469900471