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Hypertrophic cardiomyopathy (HCM) in infants with RASopathies — rare genetic disorders — is often accompanied by heart failure and carries a high mortality risk. In case studies, use of a MAPK kinase (MEK) inhibitor in selected patients appeared to improve cardiac outcomes of RASopathy-associated HCM. Researchers tested this possibility further in a retrospective study of children with this condition.
The 61 patients aged <18 years (66% infants) were receiving treatment at specialized tertiary care centers and had a likely pathogenic gain-of-function variant in an established RASopathy gene. All had been admitted for heart failure or severe outflow tract obstruction. Approximately half received compassionate or off-label use of the MEK inhib…