Published online October 2, 2006
PEDIATRICS Vol. 118 No. 4 October 2006, pp. 1519-1531 (doi:10.1542/peds.2006-0163)
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ARTICLE

Factors Associated With Establishing a Causal Diagnosis for Children With Cardiomyopathy

Gerald F. Cox, MD, PhDa,b,c, Lynn A. Sleeper, ScDd, April M. Lowe, MSd, Jeffrey A. Towbin, MDe, Steven D. Colan, MDb,f, E. John Orav, PhDg,h, Paul R. Lurie, MDi, Jane E. Messere, RNf, James D. Wilkinson, MD, MPHj and Steven E. Lipshultz, MDj

a Division of Genetics, Department of Medicine
f Department of Cardiology, Children's Hospital, Boston, Massachusetts
b Departments of Pediatrics
g Internal Medicine, Harvard Medical School, Boston, Massachusetts
c Clinical Research, Genzyme Corp, Cambridge, Massachusetts
d New England Research Institutes, Watertown, Massachusetts
e Departments of Pediatric Cardiology, Molecular and Human Genetics, and Cardiovascular Sciences, Texas Children's Hospital and Baylor College of Medicine, Houston, Texas
h Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts
i Department of Pediatrics, Albany Medical College, Albany, New York
j Department of Pediatrics, University of Miami Leonard M. Miller School of Medicine, Holtz Children's Hospital of the University of Miami-Jackson Memorial Medical Center, Batchelor Children's Research Institute and Mailman Institute for Child Development, Miami, Florida

OBJECTIVE. The goal was to identify the clinical variables associated with establishing a cause of cardiomyopathy in children.

METHODS. The Pediatric Cardiomyopathy Registry contains clinical and causal testing information for 916 children who were diagnosed as having cardiomyopathy in North America between 1990 and 1995. Children with a causal diagnosis were compared with those without with respect to several demographic, clinical, and causal testing variables.

RESULTS. Cardiomyopathy was 1 of 4 types, hypertrophic (34.2%), dilated (53.8%), restrictive (3.2%), or other or mixed (8.9%). Only one third of cases had a known cause. Children with a known cause for hypertrophic cardiomyopathy were more likely to be female, to be relatively smaller, to present with congestive heart failure, and to have increased left ventricular posterior wall thickness without outflow tract obstruction. For dilated cardiomyopathy, a known cause was associated with older age, lower heart rate, smaller left ventricular dimensions, and greater shortening fraction. Family history of cardiomyopathy predicted a significantly higher rate of causal diagnoses for all cardiomyopathy types, whereas family histories of genetic syndromes and sudden death were also predictive of a cause for hypertrophic and dilated cardiomyopathies. For hypertrophic cardiomyopathy, only blood and urine testing was associated with a causal diagnosis, whereas both viral serologic testing or culture and endomyocardial biopsy were independent predictors of a causal diagnosis in dilated cardiomyopathy.

CONCLUSIONS. Certain patient characteristics, family history, echocardiographic findings, laboratory testing, and biopsy were associated significantly with establishing a cause of pediatric cardiomyopathy. Early endomyocardial biopsy should be considered strongly for children with dilated cardiomyopathy, for definitive diagnosis of viral myocarditis. Although not widely used, skeletal muscle biopsy may yield a cause for some patients with hypertrophic cardiomyopathy and for patients suspected of having a mitochondrial disorder.

Key Words: idiopathic cardiomyopathy • hypertrophic cardiomyopathy • dilated cardiomyopathy • restrictive cardiomyopathy • myocarditis • inborn errors of metabolism • malformation syndrome • neuromuscular • endomyocardial biopsy

Abbreviations: PCMR—Pediatric Cardiomyopathy Registry • HCM—hypertrophic cardiomyopathy • DCM—dilated cardiomyopathy • RCM—restrictive cardiomyopathy • CHF—congestive heart failure

Accepted May 23, 2006.




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