Childhood-onset RASopathy-associated hypertrophic cardiomyopathy, diastolic dysfunction, and arrhythmias

Abstract

The RASopathies account for ∼18% of childhood hypertrophic cardiomyopathy (HCM) cases and up to 42% of infantile (<1 year of age) presentations, making them the second commonest cause of paediatric HCM. RASopathy-associated HCM (RAS-HCM) differs clinically from sarcomeric HCM, with almost 60% first-year mortality. Small reports have suggested spontaneous regression of left ventricular (LV) hypertrophy (LVH) in up to 17% and progression in 34%. Whether this reflects true remodelling or relative changes during growth is unclear. This study describes long-term phenotype changes in a large multicentre childhood-onset RAS-HCM cohort.