{Reference Type}: Journal Article
{Title}: Nemaline Myopathy Initially Diagnosed as Right Heart Failure with Type 2 Respiratory Failure.
{Author}: Ito M;Shima S;Ryunosuke N;Nakano S;Esaka K;Ueda A;Maeda S;Moriya R;Kondo M;Imaizumi K;Noda S;Katsuno M;Nishino I;Watanabe H;
{Journal}: Intern Med
{Volume}: 0
{Issue}: 0
{Year}: Nov 2021 13
{Factor}: 1.282
{DOI}: 10.2169/internalmedicine.8314-21
{Abstract}: 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.