Everolimus therapy in an infant with Noonan syndrome with multiple lentigines.

Abstract

RASopathies are the most common underlying etiology in infants with hypertrophic cardiomyopathy. An improved understanding of the downstream molecular mechanisms of the disease has enabled us to target therapy for genetic abnormalities in human cancers with somatic mutations in the RASopathy genes. This therapy is now being extended to RASopathies, which are due to germline mutations in the same genes. We report an infant with Noonan syndrome with multiple lentigines who presented with symptomatic heart failure in infancy. Everolimus therapy over 1 year resulted in symptomatic improvement with no significant adverse clinical events.