Key result
Nemaline myopathy can present as acute right heart failure and type 2 respiratory failure due to respiratory muscle paralysis, even when limb and trunk muscle strength are preserved.
Why the study?
Nemaline myopathy is a rare muscle disease that can, in some cases, lead to type 2 respiratory failure and right heart failure.
Case Report (n=1)
Nemaline myopathy should be considered as a potential cause of right heart failure and type 2 respiratory failure, particularly when limb and trunk muscle strength are preserved but respiratory muscle paralysis is present.
May support considering nemaline myopathy in atypical right heart failure; single case leaves open prospective validation.
Nemaline myopathy (NM) is a rare muscle disease with various clinical types. In some cases, NM can lead to type 2 respiratory failure and right heart failure. We herein report a patient with congenital NM with nebulin gene mutation who presented with acute right heart failure and type 2 respiratory failure due to respiratory muscle paralysis after upper respiratory tract infection, needing a permanent ventilator for assistance. However, the limb and trunk muscle strengths were within normal limits. This case showed that NM should be considered as a cause of right heart failure and type 2 respiratory failure.
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Ito et al. (2021) conducted a case report in Nemaline Myopathy (n=1). Nemaline Myopathy was evaluated. Nemaline myopathy can present as acute right heart failure and type 2 respiratory failure due to respiratory muscle paralysis, even when limb and trunk muscle strength are preserved.
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