Key result
Novel nebulin variant links nemaline myopathy to adult-onset respiratory and heart failure.
Why the study?
Cardiac involvement in nebulin-related nemaline myopathy is rare and only two cases have been reported, necessitating further characterization of clinical phenotypes including cardiac manifestations.
Case Report (n=1)
This case report expands the phenotypic spectrum of nebulin-related nemaline myopathy to include cardiac involvement associated with a novel NEB variant.
May warrant cardiac vigilance in nebulin-related nemaline myopathy; leaves open prevalence and screening needs in larger cohorts.
Nemaline myopathy is a heterogeneous disorder of skeletal muscle, and histologically characterized by the presence of nemaline bodies in muscle fibers. Patients with typical congenital form of nemaline myopathy initially present with proximal but later also distal muscle weakness, mostly involving facial and respiratory muscle. Cardiac involvement has been rarely observed especially in nebulin-related nemaline myopathy and there have been only two reports about nebulin-related nemaline myopathy patients with cardiac involvement. We present here the case of a 65-year-old woman manifesting slowly progressive distal myopathy with respiratory and heart failure. She harbored two variants in the nebulin gene, c.20131C > T (p.Arg6711Trp) and c.674C > T (p.Pro225Leu), and one of them, c.674C > T, was a novel variant. In this report, we discuss the pathogenicity of the novel variant and its association with clinical phenotypes including cardiac involvement.
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Ohara et al. (2020) conducted a case report in Nemaline myopathy with respiratory and heart failure (n=1). NEB variants c.20131C > T and c.674C > T was evaluated on Clinical phenotype including cardiac involvement. A 65-year-old woman with nemaline myopathy presented with respiratory and heart failure associated with two nebulin gene variants, including a novel c.674C > T variant.
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