Journal
PROGRESS IN PEDIATRIC CARDIOLOGY
Volume 39, Issue 1, Pages 13-19Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.ppedcard.2015.01.002
Keywords
RAS/MAP kinase signal transduction; Hypertrophic cardiomyopathy; RASopathies; Dilated cardiomyopathy
Categories
Funding
- National Institutes of Health [R01 HL071207]
- Telethon-Italy [GGP13107]
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available