Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8644361 | European Journal of Medical Genetics | 2017 | 23 Pages |
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.
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Genetics
Authors
Juli Ann Sublett, Carlos Enrique Prada, John Lynn Jefferies,