Abstract

RASopathies, such as HRAS related Costello syndrome, have a wide range of presentations with infantile hypertrophic cardiomyopathy as one of the most life-limiting features. While data for Costello Syndrome is lacking, one-year survival of infantile hypertrophic cardiomyopathy in patients with Noonan syndrome is only 31%. The common comorbidity of treatment resistant non-reentrant atrial tachycardia further complicates Costello syndrome. A unique area of hope in the treatment of infantile hypertrophic cardiomyopathy due to RASopathies is MEK inhibitors such as trametinib, which block the direct downstream effects of RAS overactivation.

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