Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies

Research output: Contribution to journalReview article

Abstract

RASopathies are a heterogeneous group of genetic syndromes characterized by mutations in genes that regulate cellular processes, including proliferation, differentiation, survival, migration, and metabolism. Excluding congenital heart defects, hypertrophic cardiomyopathy is the most frequent cardiovascular defect in patients affected by RASopathies. A worse outcome (in terms of surgical risk and/or mortality) has been described in a specific subset of Rasopathy patients with early onset, severe hypertrophic cardiomyopathy presenting with heart failure. New short-term therapy with a mammalian target of rapamycin inhibitor has recently been used to prevent heart failure in these patients with a severe form of hypertrophic cardiomyopathy.

Original languageEnglish
Pages (from-to)225-235
Number of pages11
JournalHeart Failure Clinics
Volume14
Issue number2
DOIs
Publication statusPublished - Apr 2018

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Keywords

  • Cardiomyopathy, Hypertrophic/diagnosis
  • Genetic Markers/genetics
  • Genetic Testing/methods
  • Humans
  • Mutation
  • ras Proteins/genetics

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