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 language | English |
|---|---|
| Pages (from-to) | 304-307 |
| Number of pages | 4 |
| Journal | Pediatric Cardiology |
| Volume | 20 |
| Issue number | 4 |
| DOIs | |
| State | Published - Jul 1 1999 |
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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
Cite this
Infantile hypertrophic cardiomyopathy of glycogenosis type IX : Isolated cardiac phosphorylase kinase deficiency. / Regalado, J. J.; Rodriguez, Maria; Ferrer, P. L.
In: Pediatric Cardiology, Vol. 20, No. 4, 01.07.1999, p. 304-307.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Infantile hypertrophic cardiomyopathy of glycogenosis type IX
T2 - Isolated cardiac phosphorylase kinase deficiency
AU - Regalado, J. J.
AU - Rodriguez, Maria
AU - Ferrer, P. L.
PY - 1999/7/1
Y1 - 1999/7/1
N2 - 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.
AB - 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.
KW - Glycogen storage disease type IX
KW - Infantile hypertrophic cardiomyopathy
KW - Phosphorylase kinase deficiency
UR - http://www.scopus.com/inward/record.url?scp=0033067986&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0033067986&partnerID=8YFLogxK
U2 - 10.1007/s002469900471
DO - 10.1007/s002469900471
M3 - Article
C2 - 10368461
AN - SCOPUS:0033067986
VL - 20
SP - 304
EP - 307
JO - Pediatric Cardiology
JF - Pediatric Cardiology
SN - 0172-0643
IS - 4
ER -