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Case Reports in Pediatrics
Volume 2012, Article ID 836420, 4 pages
Case Report

A Fatal Case of Cor Pulmonale with Undetected Chronic Hypoventilation in an Infant with a Known Congenital Myopathy

1Department of Aviation Medicine, Naval Air Station North Island, Parkville, MD 21234, USA
2Department of Genetics, Naval Medical Center San Diego, San Diego, CA 92134, USA

Received 4 February 2012; Accepted 4 March 2012

Academic Editors: E. N. Ozmert, P. Strisciuglio, and D. I. Zafeiriou

Copyright © 2012 John M. Holst and Mary J. Willis. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


The authors of this paper wish to present a case of fatal cor pulmonale with right ventricular hypertrophy complicated by a congenital myopathy. It is our intention to demonstrate the importance of vigilant clinical assessment of children with a congenital myopathy, regardless of the exact etiology of their disease, or family history of disease severity. This case highlights the risk for fatal complications if hypoventilation and respiratory insufficiency go unrecognized in myopathic children. Consequently, we recommend respiratory and cardiac monitoring surveillance as well as appropriate referral to specialists in the management of such children.