Does the presence of SARC-HCM-P/LP variants increase the risk of adverse cardiovascular outcomes and overt HCM in middle-aged adults?
Identification of SARC-HCM-P/LP variants in middle-aged adults may enhance risk stratification for adverse cardiovascular outcomes despite low aggregate penetrance for overt HCM.
In this population of middle-aged adults, SARC-HCM-P/LP variants have low aggregate penetrance for overt HCM but are associated with an increased risk of adverse cardiovascular outcomes and an attenuated cardiomyopathic phenotype. Although absolute event rates are low, identification of these variants may enhance risk stratification beyond familial disease.
Marvao et al. (Wed,) studied this question.