Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
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Target Concepts:
Gene/Protein
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Query: UMLS:C0020500 (
hyperoxaluria
)
912
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Primary hyperoxaluria is a rare hereditary metabolic disorder resulting in accumulation of calcium oxalate in visceral organs, including the heart. We report a 19-year-old male with non- compaction cardiomyopathy combined with patent ductus arteriosus awaiting combined liver-kidney transplantation for primary hyperoxaluria. After surgical closure of the patent ductus arteriosus, the patient underwent a successful renal and subsequent liver transplantation. The presence of
hypertrophic cardiomyopathy
in
hyperoxaluria
patients has been reported before, but this is the first report of non-compaction myocardium with patent ductus arteriosus in a patient with primary hyperoxaluria. At the third month after combined liver and renal transplantation, improvement in cardiac functions were observed. Primary hyperoxaluria is a clinical entity to be taken into consideration in differential diagnosis of hypertrophied myocardium with high myocardial echocardiographic intensity. In cases of
hyperoxaluria
, additional congenital abnormalities may complicate the clinical picture.
...
PMID:Cardiac involvement of primary hyperoxaluria accompanied by non-compaction cardiomyopathy and patent ductus arteriosus. 2636 66