Pediatric cardiomyopathies

Teresa M. Lee, Daphne T. Hsu, Paul Kantor, Jeffrey A. Towbin, Stephanie Ware, Steven D. Colan, Wendy K. Chung, John L. Jefferies, Joseph W. Rossano, Chesney D. Castleberry, Linda J. Addonizio, Ashwin K. Lal, Jacqueline M. Lamour, Erin M. Miller, Philip T. Thrush, Jason D. Czachor, Hiedy Razoky, Ashley Hill, Steven E. Lipshultz

Research output: Contribution to journalArticle

44 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)855-873
Number of pages19
JournalCirculation Research
Volume121
Issue number7
DOIs
StatePublished - Sep 1 2017

Fingerprint

Cardiomyopathies
Pediatrics
Hypertrophic Cardiomyopathy
Dilated Cardiomyopathy
Arrhythmogenic Right Ventricular Dysplasia
Renal Hypertension
Rare Diseases
Sudden Death
Tachycardia
Registries
Comorbidity
Molecular Biology
Atherosclerosis
Coronary Vessels
Diabetes Mellitus
Epidemiology
Therapeutics
Transplantation
Clinical Trials
Gene Expression

Keywords

  • Epidemiology
  • Genetics
  • Pediatrics

ASJC Scopus subject areas

  • Physiology
  • Cardiology and Cardiovascular Medicine

Cite this

Lee, T. M., Hsu, D. T., Kantor, P., Towbin, J. A., Ware, S., Colan, S. D., ... Lipshultz, S. E. (2017). Pediatric cardiomyopathies. Circulation Research, 121(7), 855-873. https://doi.org/10.1161/CIRCRESAHA.116.309386

Pediatric cardiomyopathies. / Lee, Teresa M.; Hsu, Daphne T.; Kantor, Paul; Towbin, Jeffrey A.; Ware, Stephanie; Colan, Steven D.; Chung, Wendy K.; Jefferies, John L.; Rossano, Joseph W.; Castleberry, Chesney D.; Addonizio, Linda J.; Lal, Ashwin K.; Lamour, Jacqueline M.; Miller, Erin M.; Thrush, Philip T.; Czachor, Jason D.; Razoky, Hiedy; Hill, Ashley; Lipshultz, Steven E.

In: Circulation Research, Vol. 121, No. 7, 01.09.2017, p. 855-873.

Research output: Contribution to journalArticle

Lee, TM, Hsu, DT, Kantor, P, Towbin, JA, Ware, S, Colan, SD, Chung, WK, Jefferies, JL, Rossano, JW, Castleberry, CD, Addonizio, LJ, Lal, AK, Lamour, JM, Miller, EM, Thrush, PT, Czachor, JD, Razoky, H, Hill, A & Lipshultz, SE 2017, 'Pediatric cardiomyopathies', Circulation Research, vol. 121, no. 7, pp. 855-873. https://doi.org/10.1161/CIRCRESAHA.116.309386
Lee TM, Hsu DT, Kantor P, Towbin JA, Ware S, Colan SD et al. Pediatric cardiomyopathies. Circulation Research. 2017 Sep 1;121(7):855-873. https://doi.org/10.1161/CIRCRESAHA.116.309386
Lee, Teresa M. ; Hsu, Daphne T. ; Kantor, Paul ; Towbin, Jeffrey A. ; Ware, Stephanie ; Colan, Steven D. ; Chung, Wendy K. ; Jefferies, John L. ; Rossano, Joseph W. ; Castleberry, Chesney D. ; Addonizio, Linda J. ; Lal, Ashwin K. ; Lamour, Jacqueline M. ; Miller, Erin M. ; Thrush, Philip T. ; Czachor, Jason D. ; Razoky, Hiedy ; Hill, Ashley ; Lipshultz, Steven E. / Pediatric cardiomyopathies. In: Circulation Research. 2017 ; Vol. 121, No. 7. pp. 855-873.
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