Abstract
A family is described in which 5 of 9 living children were found to have restrictive cardiomyopathy associated with skeletal muscle and orthopedic abnormalities. In the absence of another identifiable etiology, a genetic cause for restrictive cardiomyopathy in this family is probable. Consistent with the poor prognosis encountered for children with restrictive cardiomyopathy, 2 children in this family died, whereas a third was symptomatic by age 3 years.
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