Lessons From a Genotype-Phenotype Study About the Clinical Spectrum of Hypertrophic Cardiomyopathy Associated With Noonan Syndrome With Multiple Lentigines and PTPN11-Mutations

Circ Genom Precis Med. 2023 Aug;16(4):359-362. doi: 10.1161/CIRCGEN.123.004206. Epub 2023 Jun 16.
No abstract available

Keywords: Noonan syndrome with multiple lentigines; heart failure; hypertrophic cardiomyopathy; mTOR inhibition; outcomes.

Publication types

  • Editorial
  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • Cardiomyopathy, Hypertrophic* / complications
  • Cardiomyopathy, Hypertrophic* / diagnosis
  • Cardiomyopathy, Hypertrophic* / genetics
  • Genotype
  • Humans
  • LEOPARD Syndrome* / complications
  • LEOPARD Syndrome* / diagnosis
  • LEOPARD Syndrome* / genetics
  • Mutation
  • Noonan Syndrome* / complications
  • Noonan Syndrome* / diagnosis
  • Noonan Syndrome* / genetics
  • Phenotype
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics

Substances

  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11