Genetics of pediatric cardiomyopathies

Wendy K. Chung, Carolyn Ho, Teresa Lee, Christine E. Seidman, Stephanie Ware

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Genetic testing in children with cardiomyopathies can be helpful to confirm the diagnosis and clarify prognosis, determine if treatments are available such as for inborn errors of metabolism, and identify need for additional subspecialist medical care or surveillance such as occurs in many syndromic cardiomyopathies. Genetic testing also provides information to stratify risk for other family members, provide recurrence risk, and identify families that may consider options for family planning. In the future there may also be prevention and treatment strategies for individuals with pathogenic variants in sarcomere and other genes. The identification of families with pathogenic variants in these genes may promote more effective care for these children and their families.

Original languageEnglish (US)
JournalProgress in Pediatric Cardiology
DOIs
StateAccepted/In press - Jan 1 2017

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Cardiomyopathies
Pediatrics
Genetic Testing
Inborn Errors Metabolism
Sarcomeres
Family Planning Services
Child Care
Genes
Recurrence
Therapeutics

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Cardiology and Cardiovascular Medicine

Cite this

Genetics of pediatric cardiomyopathies. / Chung, Wendy K.; Ho, Carolyn; Lee, Teresa; Seidman, Christine E.; Ware, Stephanie.

In: Progress in Pediatric Cardiology, 01.01.2017.

Research output: Contribution to journalArticle

Chung, Wendy K. ; Ho, Carolyn ; Lee, Teresa ; Seidman, Christine E. ; Ware, Stephanie. / Genetics of pediatric cardiomyopathies. In: Progress in Pediatric Cardiology. 2017.
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