Cardiomyopathies in Noonan syndrome and the other RASopathies

被引：97

作者：

Gelb, Bruce D. ^{[1
,2
]}

Roberts, Amy E. ^{[3
,4
]}

Tartaglia, Marco ^{[5
]}

机构：

[1] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, Dept Pediat, New York, NY 10029 USA

[2] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, Dept Genet & Genom Sci, New York, NY 10029 USA

[3] Boston Childrens Hosp, Dept Cardiol, Boston, MA USA

[4] Boston Childrens Hosp, Div Genet, Boston, MA USA

[5] Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, Rome, Italy

来源：

PROGRESS IN PEDIATRIC CARDIOLOGY | 2015年 / 39卷 / 01期

基金：

美国国家卫生研究院;

关键词：

RAS/MAP kinase signal transduction; Hypertrophic cardiomyopathy; RASopathies; Dilated cardiomyopathy;

D O I：

10.1016/j.ppedcard.2015.01.002

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 howsignal transduction is perturbed. Based on those findings, small molecule therapies seem possible for RASopathy-associated cardiomyopathies. (C) 2015 Elsevier Ireland Ltd. All rights reserved.

引用

页码：13 / 19

页数：7

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