Pediatric diagnosis and management

Abstract

Hypertrophic cardiomyopathy in children manifests important differences with regard to the causes, manifestations, response to therapy, and outcomes compared to this disease in adults. Management and diagnosis in infants and young children in particular are associated with unique considerations. Etiology is an important determinant of survival, particularly in the youngest patients, and pursuit of the specific cause is therefore requisite. Diagnosis is more challenging because of a variety of metabolic and syndromic disorders that present with the hypertrophic cardiomyopathy phenotype in infancy. Diagnostic criteria commonly used in adults must be scaled to body size in children. There is considerable clinical value in genetic characterization in children with hypertrophic cardiomyopathy and the resulting cost-benefit ratio for genetic testing is therefore far more favorable than in adults. Most of the available information concerning response to therapy and potential methods of preventing sudden death has been developed in adult patients, but management of children requires consideration of the differences in age-specific risk-to-benefit ratios such as higher complication rates for implantable defibrillators. Sports participation is a particularly challenging issue in adolescents because of the high percentage of participation and the important social role of these activities. These young patients experience high rates of adverse psychological response to both exercise restrictions and defibrillator implantation. Overall, both diagnosis and therapy require age-stratification.