Article
Nemaline Myopathy Initially Diagnosed as Right Heart Failure with Type 2 Respiratory Failure.
Internal medicine (Tokyo, Japan) - 15 Jun 2022
Ito Mizuki, Shima Sayuri, Nagao Ryunosuke, Nakano Shoko, Esaka Konoka, Ueda Akihiro, Maeda Shingo, Moriya Ryoma, Kondo Masashi, Imaizumi Kazuyoshi, Noda Seiya, Katsuno Masahisa, Nishino Ichizo, Watanabe Hirohisa
Abstract excerpt
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...
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