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Published on: August 8, 2022
Pediatric Cardiomyopathies
Teresa M Lee1, Daphne T Hsu2, Paul Kantor2
1From the Department of Pediatrics, Columbia University Medical Center, New York, NY (T.M.L., W.K.C., L.J.A.); Department of Pediatrics, Albert Einstein College of Medicine, The Children's Hospital at Montefiore, Bronx, NY (D.T.H., J.M.L.); Department of Pediatrics, Stollery Children's Hospital, University of Alberta, Edmonton, Canada (P.K.); Department of Pediatrics, The Heart Institute, Le Bonheur Children's Hospital, Memphis, TN (J.A.T.); Indiana University School of Medicine, Indianapolis (S.M.W.); Department of Cardiology, Boston Children's Hospital, MA (S.D.C.); Department of Pediatrics, Cincinnati Children's Hospital Medical Center, OH (J.L.J., E.M.M.); Department of Pediatrics, Children's Hospital of Philadelphia, PA (J.W.R.); Department of Pediatrics, Washington University School of Medicine, St. Louis, MO (C.D.C.); Department of Pediatrics, Primary Children's Hospital, Salt Lake City, UT (A.K.L.); Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago, IL (P.T.T.); and Department of Pediatrics, Wayne State University School of Medicine and Children's Hospital of Michigan, Detroit (J.D.C., H.R., A.H., S.E.L.). tl2164@columbia.edu.
Insights
Pediatric cardiomyopathies are rare heart muscle diseases. Genetic factors are increasingly important, and outcomes differ significantly from adults, necessitating tailored research and therapies.
Area of Science:
- Cardiology
- Genetics
- Pediatric Medicine
Background:
- Pediatric cardiomyopathies are rare, affecting 1.1-1.5 per 100,000 children annually.
- Dilated and hypertrophic cardiomyopathies are most common, with genetic mutations playing a significant role.
- These conditions offer unique insights into myocardial dysfunction due to the absence of common comorbidities.
Purpose of the Study:
- To summarize current knowledge on pediatric cardiomyopathies.
- To review genetic and molecular origins, clinical course, and outcomes.
- To identify areas for future research and evidence-based therapies.
Main Methods:
- Review of large international registries on pediatric cardiomyopathies.
- Analysis of epidemiological data, causes, and patient outcomes.
- Synthesis of current literature on genetic and molecular pathogenesis.
Main Results:
- Outcomes for pediatric cardiomyopathies differ significantly from adults.
- 2-year outcomes for dilated cardiomyopathy: 20% normalization, 40% mortality/transplant.
- 2-year mortality for infantile hypertrophic cardiomyopathy is 30%; rare in older children.
Conclusions:
- Pediatric cardiomyopathies have distinct genetic expression and outcomes compared to adults.
- Development of disease-specific therapies and clinical trials is crucial.
- Further research is required to improve evidence-based treatments for pediatric cardiomyopathies.
Abstract:
Pediatric cardiomyopathies are rare diseases with an annual incidence of 1.1 to 1.5 per 100 000. Dilated and hypertrophic cardiomyopathies are the most common; restrictive, noncompaction, and mixed cardiomyopathies occur infrequently; and arrhythmogenic right ventricular cardiomyopathy is rare. Pediatric cardiomyopathies can result from coronary artery abnormalities, tachyarrhythmias, exposure to infection or toxins, or secondary to other underlying disorders. Increasingly, the importance of genetic mutations in the pathogenesis of isolated or syndromic pediatric cardiomyopathies is becoming apparent. Pediatric cardiomyopathies often occur in the absence of comorbidities, such as atherosclerosis, hypertension, renal dysfunction, and diabetes mellitus; as a result, they offer insights into the primary pathogenesis of myocardial dysfunction. Large international registries have characterized the epidemiology, cause, and outcomes of pediatric cardiomyopathies. Although adult and pediatric cardiomyopathies have similar morphological and clinical manifestations, their outcomes differ significantly. Within 2 years of presentation, normalization of function occurs in 20% of children with dilated cardiomyopathy, and 40% die or undergo transplantation. Infants with hypertrophic cardiomyopathy have a 2-year mortality of 30%, whereas death is rare in older children. Sudden death is rare. Molecular evidence indicates that gene expression differs between adult and pediatric cardiomyopathies, suggesting that treatment response may differ as well. Clinical trials to support evidence-based treatments and the development of disease-specific therapies for pediatric cardiomyopathies are in their infancy. This compendium summarizes current knowledge of the genetic and molecular origins, clinical course, and outcomes of the most common phenotypic presentations of pediatric cardiomyopathies and highlights key areas where additional research is required.
Clinical Trial Registration:
URL: http://www.clinicaltrials.gov. Unique identifiers: NCT02549664 and NCT01912534.
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