LymphedemaV1, Main, Exploration, bibRecord, 002043

Cardiomyopathies in Noonan syndrome and the other RASopathies

Identifieur interne : 002043 ( Main/Exploration ); précédent : 002042; suivant : 002044

Cardiomyopathies 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.

RBID : PMC:4568836

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, RAF1, 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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568836

DOI: 10.1016/j.ppedcard.2015.01.002
PubMed: 26380542
PubMed Central: 4568836

Affiliations:

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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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Cardiomyopathies in Noonan syndrome and the other RASopathies

Cardiomyopathies in Noonan syndrome and the other RASopathies

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Abstract

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