Key result
A de novo mutation in the cardiac myosin heavy chain gene MYH7 was identified in a pediatric case of restrictive cardiomyopathy, characterized by early onset and rapid progression to death.
Case Report (n=1)
This case report expands the phenotypic spectrum of MYH7 mutations to include infantile restrictive cardiomyopathy with rapid fatal progression.
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May support MYH7 testing in early-onset pediatric restrictive cardiomyopathy; leaves open validation in larger cohorts.
Here we report the first pediatric case of restrictive cardiomyopathy secondary to a de novo mutation in the cardiac myosin heavy chain gene MYH7. The clinical course is characterized by an early onset of disease, mild hypertrophy of the left ventricle and a very short evolution to death. Because of the location of the mutation in the hinge region between the rod part and the globular head of the myosin molecule, it is possible that restrictive cardiomyopathy resulted from an impairment of flexion/extension of myosin heads during the contraction/relaxation cycle.
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Karam et al. (2008) conducted a case report in Infantile Restrictive Cardiomyopathy (n=1). de novo mutation in the cardiac myosin heavy chain gene MYH7 was evaluated. A de novo mutation in the cardiac myosin heavy chain gene MYH7 was identified in a pediatric case of restrictive cardiomyopathy, characterized by early onset and rapid progression to death.
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