Infantile hypertrophic cardiomyopathy of glycogenosis type IX: Isolated cardiac phosphorylase kinase deficiency

J. J. Regalado, M. M. Rodriguez, P. L. Ferrer

Research output: Contribution to journalArticle

17 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)304-307
Number of pages4
JournalPediatric Cardiology
Volume20
Issue number4
DOIs
StatePublished - Jul 1 1999

Keywords

  • Glycogen storage disease type IX
  • Infantile hypertrophic cardiomyopathy
  • Phosphorylase kinase deficiency

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Pediatrics, Perinatology, and Child Health

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