日本小児循環器学会雑誌 Pediatric Cardiology and Cardiac Surgery

Noonan syndrome (NS), first described by Dr. Jacqueline Noonan in 1963, is an autosomal dominant congenital anomaly syndrome. It is characterized by unique facial features, heart disease, and short stature. Patients with NS require comprehensive medical treatment for a variety of systemic symptoms. Genetic analyses have recently revealed that Costello syndrome and cardiofaciocutaneous syndrome, which share many clinical similarities with NS, are caused by abnormalities in the RAS/MAPK intracellular signaling pathway. Collectively, these syndromes and other NS-associated disorders are now referred to as RAS/MAPK syndromes or RASopathies. This review provides basic knowledge on 25 NS-associated disorders and RAS/MAPK syndromes with which pediatric cardiologists should be familiar.