Cardiac Phenotype and Gene Mutations in RASopathies.

Abstract excerpt

Cardiac involvement is a major feature of RASopathies, a group of phenotypically overlapping syndromes caused by germline mutations in genes encoding components of the RAS/MAPK (mitogen-activated protein kinase) signaling pathway. In particular, Noonan syndrome (NS) is associated with a wide spectrum of cardiac pathologies ranging from congenital heart disease (CHD), present in approximately 80% of patients, to...

Topics

• Humans
• Noonan Syndrome
• Phenotype
• Cardiomyopathy, Hypertrophic
• ras Proteins
• MAP Kinase Signaling System
• Pulmonary Valve Stenosis
• Genetic Association Studies
• Heart Defects, Congenital
• Mutation