Competing interests: None.
Clinicopathological features of fatal cardiomyopathy in childhood: An autopsy series
Version of Record online: 19 APR 2012
© 2012 The Authors. Journal of Paediatrics and Child Health © 2012 Paediatrics and Child Health Division (Royal Australasian College of Physicians)
Journal of Paediatrics and Child Health
Volume 48, Issue 8, pages 675–680, August 2012
How to Cite
Roberts, S. E., Pryce, J. W., Weber, M. A., Malone, M., Ashworth, M. T. and Sebire, N. J. (2012), Clinicopathological features of fatal cardiomyopathy in childhood: An autopsy series. Journal of Paediatrics and Child Health, 48: 675–680. doi: 10.1111/j.1440-1754.2012.02450.x
Funding: JWP is funded by a grant awarded by SPARKS charity. SPARKS had no involvement in the collection, analysis or interpretation of data, in the writing of this paper or in the decision to submit the paper for publication.
Ethical approval: Local research ethics committee approval has been granted.
Guarantor: JWP and NJS ensure the veracity and integrity of this study.
Contributorship: SEAR, MTA and NJS designed the study. SEAR, JWP and MTA collected and analysed the data. SEAR, JWP, MAW, MAA, MM and NJS wrote the manuscript. All authors saw and approved the final version of the manuscript.
- Issue online: 6 AUG 2012
- Version of Record online: 19 APR 2012
- Accepted for publication 18 September 2011.
Aim: Cardiomyopathy, a group of primary myocardial disorders, is an uncommon, but important, cause of death in childhood. This study examines the demographic, clinical and pathological features of fatal cardiomyopathy in childhood with particular reference to its classification and autopsy findings.
Method: The method of this study was a retrospective structured review of all paediatric autopsies performed at a single specialist centre from 1995 to 2009 inclusive, in order to determine the demographic, clinical and pathological features of fatal cardiomyopathy.
Results: From a total of 2229 autopsies performed at the centre during the study period on live-born infants and children, 34 confirmed cases of cardiomyopathy were identified (1.5%). More than half (59%) of these cases occurred in infants (less than 1 year of age). Heart weight of cardiomyopathy cases was significantly greater than those with normal hearts (P < 0.001), and 77% had heart weights above the 95th percentile of the normal expected range for age, including all of those over 1 year age. Of cardiomyopathy cases, 50% were primary dilated cardiomyopathy and 27% were primary hypertrophic cardiomyopathy. Twelve of 34 cases (35%) presented as sudden unexpected death, the diagnosis of cardiomyopathy being only made at autopsy.
Conclusion: Cardiomyopathy is an uncommon cause of death in infancy and childhood. It can present as sudden unexpected death and encompasses a range of aetiologies. Heart weight above the 95th percentile at autopsy is present in most cases but heart weight may be within the normal range in infants.