Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Apr 16, 2021; 9(11): 2569-2575
Published online Apr 16, 2021. doi: 10.12998/wjcc.v9.i11.2569
Nemaline myopathy with dilated cardiomyopathy and severe heart failure: A case report
Qian Wang, Fan Hu
Qian Wang, Department of Pediatric Neurology, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
Fan Hu, Department of Pediatric Cardiology, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
Author contributions: Wang Q and Hu F provided the concept for the study; Wang Q drafted the manuscript; Hu F performed the review; all authors have read and approved the content of the manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: We declare that we have no conflicts of interest related to this work.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Fan Hu, MD, Associate Chief Physician, Department of Pediatric Cardiology, West China Second University Hospital, Sichuan University, No. 20, 3rd Section, South Renmin Road, Chengdu 610041, Sichuan, China. heracleshu@sina.com
Received: December 25, 2020
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
Processing time: 97 Days and 21.2 Hours
Core Tip

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.