Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death

Eur J Med Genet. 2017 Jun;60(6):299-302. doi: 10.1016/j.ejmg.2017.03.009. Epub 2017 Mar 25.

Abstract

Noonan syndrome is a well-known genetic condition associating congenital heart defects, short stature, and distinctive facial features. Pulmonary valve stenosis and hypertrophic cardiomyopathy are the most frequent cardiac abnormalities, the latter being associated with a higher mortality. Here we report for the first time, a case of congenital left main coronary artery atresia in a Noonan syndrome associated with RIT1 variant, leading to unrescued sudden death. This case-report supports the already-suspected severity of the RIT1-related Noonan syndrome compared to average Noonan syndrome, and should encourage clinicians to be very cautious with these patients.

Keywords: Colon stenosis; Left main coronary artery atresia; Noonan syndrome; RIT1; Sudden death.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Coronary Vessel Anomalies / genetics*
  • Coronary Vessel Anomalies / pathology
  • Death, Sudden, Cardiac*
  • Humans
  • Male
  • Mutation
  • Noonan Syndrome / genetics*
  • Noonan Syndrome / pathology
  • Phenotype
  • ras Proteins / genetics*

Substances

  • RIT1 protein, human
  • ras Proteins