Three cases of Paternally Transmitted Noonan Syndrome Associated with Pulmonary Valvular Stenosis in a Single Family: Rare Case Series

Abstract

Noonan syndrome is a genetic disorder characterised by skeletal malformations and cardiac defects. In view of its autosomal inheritance it can run in families. Males are usually infertile, but reports of paternal transmission exist. In this case series we report three members of a single family involving two generations (father and 2 sons), with phenotypic characteristics of Noonan syndrome associated with severe dysplastic pulmonary valvular stenosis. We attempted balloon pulmonary valvuloplasty of all three cases in a single day. The procedure was successful with acceptable decrease in gradient across the pulmonary valve in all patients except for one case