Published online Apr 16, 2021. doi: 10.12998/wjcc.v9.i11.2569
Peer-review started: December 25, 2020
First decision: January 10, 2021
Revised: January 23, 2021
Accepted: February 8, 2021
Article in press: February 8, 2021
Published online: April 16, 2021
Core Tip: Nemaline myopathy (NM) is a rare kind of congenital myopathy, with an incidence of 1:50000. The pathological characteristic is accumulated “rod” shaped structures in the muscle biopsies observed by light or electron microscopy. NM patients often have hypomyotonia and different degrees of muscle weakness. Skeletal muscles are always involved in this disease, while myocardial involvement is uncommon. However, it has been recognized that NM with mutation in myopalladin (MYPN) gene also results in dilated cardiomyopathy or hypertrophic cardiomyopathy. Here, we report the case of a 3-year-old boy with NM who was admitted with dilated cardiomyopathy and heart failure followed by genetic confirmation of NM with an MYPN mutation.