Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies

G. Calcagni, R. Adorisio, S. Martinelli, G. Grutter, A. Baban, P. Versacci, M.C. Digilio, F. Drago, B.D. Gelb, M. Tartaglia, B. Marino

Research output: Contribution to journalArticle

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. © 2017 Elsevier Inc.
Original languageEnglish
Pages (from-to)225-235
Number of pages11
JournalHeart Failure Clinics
Volume14
Issue number2
DOIs
Publication statusPublished - 2018

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Keywords

  • Congenital heart defect
  • Costello syndrome
  • Genotype-phenotype correlations
  • Hypertrophic cardiomyopathy
  • LEOPARD syndrome
  • Noonan syndrome
  • RAS signaling
  • RASopathies
  • mitogen activated protein kinase
  • Ras protein
  • clinical feature
  • gene mutation
  • genotype phenotype correlation
  • history
  • human
  • hypertrophic cardiomyopathy
  • molecular pathology
  • nonhuman
  • patient care
  • Review
  • genetic marker
  • genetic screening
  • genetics
  • metabolism
  • mutation
  • procedures
  • Cardiomyopathy, Hypertrophic
  • Genetic Markers
  • Genetic Testing
  • Humans
  • Mutation
  • ras Proteins

Cite this

Calcagni, G., Adorisio, R., Martinelli, S., Grutter, G., Baban, A., Versacci, P., Digilio, M. C., Drago, F., Gelb, B. D., Tartaglia, M., & Marino, B. (2018). Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies. Heart Failure Clinics, 14(2), 225-235. https://doi.org/10.1016/j.hfc.2017.12.005