Hypertrophic cardiomyopathy (HCM) in infants with mutations in the RAS/mitogen-activated protein kinase (MAPK) pathway leads to heart failure and early death. Preliminary studies have demonstrated that MAPK kinase inhibitors (MEK inhibitors) are beneficial for cardiac manifestations in mice and are associated with the reversal of HCM in infants. To explore this further, a study has investigated whether trametinib, a MEK inhibitor, lowers mortality and morbidity in 61 infants with HCM linked to RAS/MAPK pathway mutations (median age – 7.4 months). The study revealed that trametinib significantly reduced the risks of death, cardiac transplantation , and cardiac surgery compared to standard care for cardiomyopathy (overall outcome: 17% vs.
87%). Aside from frequent skin and mucous side effects, patients treated with trametinib experienced no severe adverse events. These findings suggest…
