How do genotype and sex impact the clinical course and disease expression in ARVD/C mutation carriers?
Genotype and male sex significantly impact the clinical course and phenotypic expression in ARVD/C mutation carriers, with SCD/VF presenting at a younger age than sustained monomorphic VT.
Presentation with SCD/VF occurs at a significantly younger age when compared with sustained monomorphic VT. The genotype of ARVD/C mutation carriers impacts clinical course and disease expression. Male sex negatively modifies phenotypic expression.
Bhonsale et al. (Fri,) studied this question.