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CARDIAC LIPIDOSIS, FAMILIAL

CARDIAC LIPIDOSIS, FAMILIAL

Deacon et al. (1974) described brother and sister with a form of infantile cardiomyopathy characterized by accumulation of lipid in the sarcoplasm of myocardial ...

Deacon et al. (1974) described brother and sister with a form of infantile cardiomyopathy characterized by accumulation of lipid in the sarcoplasm of myocardial fibers. Only sporadic cases had been reported previously (Reid et al., 1968). In Deacon's patients onset was at birth and 4 weeks of age and death at 19 days and 4 months from congestive heart failure. Both had microcephaly. Severe mitochondrial changes were found in the myocardial fibrils in addition to the accumulation of neutral fat. The parents were thought to be nonconsanguineous. McKusick (2002) noted that these may be cases of infantile histiocytoid cardiomyopathy (500000).

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