Case report: Left ventricular noncompaction cardiomyopathy and RASopathies

Authors

• Juli Ann Sublett, Cincinnati Children's Hospital Medical Center
• Carlos Enrique Prada, Cincinnati Children's Hospital Medical Center
• John Lynn Jefferies, Cincinnati Children's Hospital Medical Center

Abstract

The following is a case report of 6 patients with Noonan syndrome (NS) and/or a related RASsopathy that also have evidence of left ventricular noncompaction cardiomyopathy (LVNC). Noonan syndrome,a type of RASopathy, is an autosomal dominant disorder that is typically associated with congenital heart defects and hypertrophic cardiomyopathy. There have been minimal reports of Noonan syndrome or other RASopathy and the association of LVNC. This report promulgates 6 nonrelated cases of Noonan syndrome or unspecified RASopathy and LVNC.

Publication Title

European Journal of Medical Genetics

Recommended Citation

Sublett, J., Prada, C., & Jefferies, J. (2017). Case report: Left ventricular noncompaction cardiomyopathy and RASopathies. European Journal of Medical Genetics, 60 (12), 680-684. https://doi.org/10.1016/j.ejmg.2017.09.002