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

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.