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Early prenatal detection of hypertrophic cardiomyopathy in Noonan syndrome: A case to remember.
- Source :
- Congenital Anomalies; Mar2020, Vol. 60 Issue 2, p68-70, 3p
- Publication Year :
- 2020
-
Abstract
- 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]
Details
- Language :
- English
- ISSN :
- 09143505
- Volume :
- 60
- Issue :
- 2
- Database :
- Complementary Index
- Journal :
- Congenital Anomalies
- Publication Type :
- Academic Journal
- Accession number :
- 142158830
- Full Text :
- https://doi.org/10.1111/cga.12334