The natural history of Noonan syndrome: a long-term follow-up study.

ABSTRACT:

Objective

To define better the adult phenotype and natural history of Noonan syndrome.

Design

A prospective observational study of a large cohort.

Results

Data are presented for 112 individuals with Noonan syndrome (mean age 25.3 (range 12-71) years), who were followed up for a mean of 12.02 years. Mutations in PTPN11 were identified in 35% of probands. Ten subjects died during the study interval; three of these deaths were secondary to heart failure associated with hypertrophic cardiomyopathy. Pulmonary stenosis affected 73 (65%) subjects; 42 (58%) required no intervention, nine underwent balloon pulmonary valvuloplasty (three requiring further intervention) and 22 surgical valvuloplasty (three requiring further intervention). Hypertrophic cardiomyopathy affected 21

SUBMITTER: Shaw AC 

PROVIDER: S-EPMC2083343 | biostudies-literature | 2007 Feb

REPOSITORIES: biostudies-literature