Does early clinical and genetic screening identify high-risk phenotype-positive HCM in children not eligible by current guidelines?
Early clinical and genetic screening in younger family members of HCM patients identifies a significant proportion of phenotype-positive children who would be missed by current guidelines.
A third of children not eligible for early screening by current guidelines had phenotype-positive HCM. MYH7 and MYBC3 mutation-positive patients were at highest risk for developing early HCM and experiencing an event or requiring a major intervention. Our findings suggest that younger family members should be considered for early clinical and genetic screening to identify the subset in need of closer monitoring and interventions.
Lafrenière‐Roula et al. (Thu,) studied this question.