Cardiomyopathies in Noonan syndrome and the other RASopathies
Identifieur interne : 002043 ( Main/Exploration ); précédent : 002042; suivant : 002044Cardiomyopathies in Noonan syndrome and the other RASopathies
Auteurs : Bruce D. Gelb [États-Unis] ; Amy E. Roberts [États-Unis] ; Marco Tartaglia [Italie]Source :
- Progress in pediatric cardiology [ 1058-9813 ] ; 2015.
Abstract
Noonan syndrome and related disorders (Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, Noonan syndrome with loose anagen hair, and other related traits) are autosomal dominant traits. Mutations causing these disorders alter proteins relevant for signaling through RAS. Thus, these traits are now collectively called the RASopathies. While the RASopathies have pleiomorphic features, this review will focus on the hypertrophic cardiomyopathy observed in varying percentages of all of these traits. In addition, inherited abnormalities in one pathway gene,
Url:
DOI: 10.1016/j.ppedcard.2015.01.002
PubMed: 26380542
PubMed Central: 4568836
Affiliations:
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Le document en format XML
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<front><div type="abstract" xml:lang="en"><p id="P2">Noonan syndrome and related disorders (Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, Noonan syndrome with loose anagen hair, and other related traits) are autosomal dominant traits. Mutations causing these disorders alter proteins relevant for signaling through RAS. Thus, these traits are now collectively called the RASopathies. While the RASopathies have pleiomorphic features, this review will focus on the hypertrophic cardiomyopathy observed in varying percentages of all of these traits. In addition, inherited abnormalities in one pathway gene, <italic>RAF1</italic>
, cause pediatric-onset dilated cardiomyopathy. The pathogeneses for the RASopathy-associated cardiomyopathies are being elucidated, principally using animal models, leading to genotype-specific insights into how signal transduction is perturbed. Based on those findings, small molecule therapies seem possible for RASopathy-associated cardiomyopathies.</p>
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