ArticleAnnals of pediatric cardiology
Everolimus therapy in an infant with Noonan syndrome with multiple lentigines.
Article in Annals of pediatric cardiology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
2 authors.
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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.
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