A fatal case of cor pulmonale with undetected chronic hypoventilation in an infant with a known congenital myopathy.

John M Holst,Mary J Willis

doi:10.1155/2012/836420

Abstract

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.

Highlights

Congenital myopathies consist of a heterogeneous group of neuromuscular disorders that normally present at birth or early childhood
We present the case of an infant who was the third generation in his family affected by a congenital myopathy in which cor pulmonale developed undetected
The case of presumed autosomal dominant congenital myopathy presented here highlights the point that congenital myopathies are not always benign, and in some cases they possibly are progressive [2]

Summary

Introduction

Congenital myopathies consist of a heterogeneous group of neuromuscular disorders that normally present at birth or early childhood. We present the case of an infant who was the third generation in his family affected by a congenital myopathy in which cor pulmonale developed undetected.

Results

Conclusion