Early prenatal detection of hypertrophic cardiomyopathy in Noonan syndrome: A case to remember.

Only isolated cases have been reported, for example, in fetuses of genetic disorders.[1] In this study, we describe HCM identified by mid-pregnancy ultrasound in a prenatal case with Noonan syndrome (NS), and this association has seldom been reported. The p.S257 L variant in our case locates in CR2, and has been reported in NS with HCM.[6] However, most of previously reported HCM patients with NS-causing variants developed this cardiac defect postnatally. [Extracted from the article]