Cardiomyopathies in Noonan syndrome and the other RASopathies

Bruce D. Gelb, Amy E. Roberts, Marco Tartaglia

Research output: Contribution to journalArticlepeer-review

Abstract

Noonan syndrome and related disorders (Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, Noonan syndrome with loose anagen hair, and other related traits) are autosomal dominant traits. Mutations causing these disorders alter proteins relevant for signaling through RAS. Thus, these traits are now collectively called the RASopathies. While the RASopathies have pleiomorphic features, this review will focus on the hypertrophic cardiomyopathy observed in varying percentages of all of these traits. In addition, inherited abnormalities in one pathway gene, RAF1, cause pediatric-onset dilated cardiomyopathy. The pathogeneses for the RASopathy-associated cardiomyopathies are being elucidated, principally using animal models, leading to genotype-specific insights into how signal transduction is perturbed. Based on those findings, small molecule therapies seem possible for RASopathy-associated cardiomyopathies.

Original languageEnglish
Pages (from-to)13-19
Number of pages7
JournalProgress in Pediatric Cardiology
Volume39
Issue number1
DOIs
Publication statusPublished - Jul 1 2015

Keywords

  • Dilated cardiomyopathy
  • Hypertrophic cardiomyopathy
  • RAS/MAP kinase signal transduction
  • RASopathies

ASJC Scopus subject areas

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

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