The DOI matches its Crossref record; 141 of the 141 references it cites were found in a registry or an index.
Pediatric Cardiomyopathies
Open accessAbstract
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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Self-citationTruncations of titin causing dilated cardiomyopathy
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2023 ESC guidelines for the management of cardiomyopathies
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The Role of Multimodality Imaging in Pediatric Cardiomyopathies
Moscatelli, S., Leo, I., Bianco, F., Borrelli, N., Beltrami, M., Garofalo, M., Milano, E., Bisaccia, G., Iellamo, F., Bassareo, P., et al. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12144866 · Cited by 12
Metadata
- Authors
- Lee, T. M., Hsu, D. T., Kantor, P., Towbin, J. A., Ware, S. M., Colan, S. D., Chung, W. K., Jefferies, J. L., Rossano, J. W., Castleberry, C. D., Addonizio, L. J., Lal, A. K., Lamour, J. M., Miller, E. M., Thrush, P. T., Czachor, J. D., Razoky, H., Hill, A., & Lipshultz, S. E.
- Venue
- Circulation Research
- Published
- 2017-09-15
- Volume
- 121
- Issue
- 7
- Pages
- 855-873
- ISSN
- 0009-7330 (ISSN-L)
- 1524-4571
- OpenAlex
- W4211021766
- Cited by
- 312
- References
- 141
- FWCI
- 17.94
- Type
- journal article
- Language
- en
- Open access
- green
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- Lee, T. M., Hsu, D. T., Kantor, P., Towbin, J. A., Ware, S. M., Colan, S. D., Chung, W. K., Jefferies, J. L., Rossano, J. W., Castleberry, C. D., Addonizio, L. J., Lal, A. K., Lamour, J. M., Miller, E. M., Thrush, P. T., Czachor, J. D., Razoky, H., Hill, A., & Lipshultz, S. E. (2017). Pediatric Cardiomyopathies. Circulation Research. https://doi.org/10.1161/circresaha.116.309386
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