Top Things to Know: Cardiomyopathy in Children Classification and Diagnosis
Published: May 28, 2019
- The classification and causes of cardiomyopathies presenting during the neonatal period, in infancy, childhood, and adolescence have some overlap with adult onset cardiomyopathies but in many cases, have very different causes, risk factors and course, making the classification different than in adult onset cardiomyopathy.
- Cardiomyopathies result in some of the worst pediatric cardiology outcomes, as nearly 40 percent of children who present with symptomatic cardiomyopathy receive a heart transplant or die within the first 2 years after diagnosis.
- The complex interactions among genetics, environmental factors and the response to myocardial injury in pediatric cardiomyopathies are becoming elucidated through basic, translational and clinical research.
- Genetic etiology can be important for understanding prognosis and has the potential to result in “personalized” medical care. A medical genetics evaluation is important for correct diagnosis and disease-specific prognosis and management.
- Indications for genetic testing should include determining the etiology of cardiomyopathy, predicting the clinical course and severity, screening first-degree relatives, and determining recurrence risk. Before genetic testing, comprehensive genetic counseling and a complete family pedigree can provide a framework for understanding the scope and implications of testing.
- Genetic testing should first be performed in the individual known to have a specific cardiomyopathy phenotype and should be informed by the child’s overall presentation, with a detailed examination looking for dysmorphic features, muscle weakness, scoliosis, or specific laboratory findings.
- The variety of etiologies in the different cardiomyopathies in children is large and their frequency during childhood is not well delineated.
- A thorough history, physical examination, detailed cardiac imaging, and attention to possible extra-cardiovascular abnormalities can aid the diagnostic evaluation. This is particularly relevant to infants where the early manifestation of cardiomyopathy and the lack of chronology to allow the underlying disease to evolve and declare itself may necessitate more comprehensive evaluation
- The authors suggest the classification of cardiomyopathy in children should follow a morpho-functional approach with a hierarchy that starts at the top with the structural and functional phenotype familiar to the practicing cardiologist. Genetic and non-genetic etiologies should be subcategorized.
- This statement provides a current perspective of the state of cardiomyopathy in children to illustrate what is known and where knowledge gaps exist for future discovery.
Citation
Lipshultz SE, Law YM, Asante-Korang A, Austin ED, Dipchand AI, Everitt MD, Hsu DT, Lin KY, Price JF, Wilkinson JD, Colan SD, on behalf of the American Heart Association Council on Lifelong Congenital Heart Disease and Heart Health in the Young, Council on Clinical Cardiology, and Council on Genomic and Precision Medicine. Cardiomyopathy in children: classification and diagnosis: a scientific statement from the American Heart Association [published online ahead of print May 28, 2019]. Circulation. doi: 10.1161/CIR.0000000000000682.