Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies

Giulio Calcagni, Rachele Adorisio, Simone Martinelli, Giorgia Grutter, Anwar Baban, Paolo Versacci, Maria Cristina Digilio, Fabrizio Drago, Bruce D. Gelb, Marco Tartaglia, Bruno Marino

Research output: Contribution to journalReview articlepeer-review

37 Scopus citations


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
Issue number2
StatePublished - Apr 2018


  • Congenital heart defect
  • Costello syndrome
  • Genotype-phenotype correlations
  • Hypertrophic cardiomyopathy
  • LEOPARD syndrome
  • Noonan syndrome
  • RAS signaling
  • RASopathies


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