Key result
A 9-year-old boy with childhood-onset nemaline myopathy and a novel ACTA1 mutation (p.W358C) developed early dilated cardiomyopathy and died 6 months after diagnosis despite beta-blocker therapy.
Population
9-year-old boy with nemaline myopathy and dilated cardiomyopathy, featuring a novel mutation p.W358C in ACTA1
Design
Case_report
Follow-up
6 months after diagnosis of dilated cardiomyopathy
Authors
Loading...
May warrant early cardiac evaluation in childhood-onset nemaline myopathy; leaves open the contribution of ACTA1 mutations to rapid DCM.
Case Report (n=1)
This is the first reported case of dilated cardiomyopathy associated with childhood-onset nemaline myopathy, highlighting that rapid deterioration can occur early in the disease course.
Gatayama et al. (2013) conducted a case report in Nemaline myopathy with dilated cardiomyopathy (n=1). ACTA1 p.W358C mutation was evaluated on Mortality. A 9-year-old boy with childhood-onset nemaline myopathy and a novel ACTA1 mutation (p.W358C) developed early dilated cardiomyopathy and died 6 months after diagnosis despite beta-blocker therapy.