Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency.
Pediatr Cardiol
; 20(4): 304-7, 1999.
Article
in En
| MEDLINE
| ID: mdl-10368461
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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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phosphorylase Kinase
/
Cardiomyopathy, Hypertrophic
/
Glycogen Storage Disease
/
Myocardium
Limits:
Female
/
Humans
/
Male
/
Newborn
Language:
En
Journal:
Pediatr Cardiol
Year:
1999
Document type:
Article