摘要：Noonan syndrome is a rare genetic disorder. It has an autosomal dominant and heterogeneous pattern, with gain-of-function mutations in the genes of the RAS-MAPK signaling pathway. Cardiovascular diseases such as hypertrophic cardiomyopathy are associated with the mutation of RIT1, which causes an alteration in important proteins in the RAS signaling pathway. Patients with Noonan syndrome are more likely to have heart failure than other children with hypertrophic cardiomyopathy. An early diagnosis increases their survival by 70%. Being congestive heart failure, the main cause of death. Depending on the genetic mutation, differences will be seen in cardiovascular involvement. Patients with mutations in PTPN11 or SOS1 will have a lower prevalence of having hypertrophic cardiomyopathy than those with mutations in RAF1 or RIT1, who are very prone to developing hypertrophic cardiomyopathy in 85%. RIT1 mutations may also generate pulmonary valve stenosis. Genotype studies are being carried out to find out how signal transduction is altered, as well as possible treatments.
