Article
A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation.
PloS one - 1 Jan 2016
Sana Maria Elena, Quilliam Lawrence A, Spitaleri Andrea, Pezzoli Laura, Marchetti Daniela, Lodrini Chiara, Candiago Elisabetta, Lincesso Anna Rita, Ferrazzi Paolo, Iascone Maria
Abstract excerpt
Several genetic conditions can lead to left ventricular hypertrophy (LVH). Among them, hypertrophic cardiomyopathy (HCM), caused by mutations in sarcomere genes, is the most common inherited cardiac disease. Instead, RASopathies, a rare class of disorders characterized by neuro-cardio-facial-cutaneous abnormalities and sometimes presenting with LVH, are caused by mutations in the RAS-MAPK pathway. We report on a...
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