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End-Stage Cardiac Disease as an Initial Presentation of Systemic Myopathies: Case Series and Literature Review
End-Stage Cardiac Disease as an Initial Presentation of Systemic Myopathies: Case Series and Literature Review JOURNAL OF CHILD NEUROLOGY Katzberg, H., Karamchandani, J., So, Y. T., Vogel, H., Wang, C. H. 2010; 25 (11): 1382-1388Abstract
Life-threatening cardiomyopathy is associated with certain systemic myopathies and usually presents as an end-stage progression of the disease. However, cardiac symptoms can sometimes precede muscle weakness. The authors reviewed medical records from 2003 to 2008 on patients attending their neuromuscular clinic and identified patients who initially presented with an end-stage cardiomyopathy and were later diagnosed with a specific muscle disease through muscle biopsy. They report 5 cases of children who initially presented with cardiomyopathies without neuromuscular symptoms. The cardiac symptoms were so severe that 4 of them required cardiac transplantation and 1 died prior to transplantation. Review of muscle pathology confirmed the diagnoses of Becker muscular dystrophy, myofibrillar myopathy, mitochondrial myopathy with cytochrome oxidase deficiency, Danon disease, and glycogen storage disease. The authors conclude that cardiomyopathy can be the initial presentation of a wide spectrum of systemic myopathies. Careful evaluation of neuromuscular systems should be carried out in patients presenting with end-stage cardiomyopathies.
View details for DOI 10.1177/0883073810367683
View details for PubMedID 20445193