Why the study?
How do genotype and sex impact the clinical course and disease expression in ARVD/C mutation carriers?
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.
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May inform genotype- and sex-specific monitoring in younger ARVC carriers; leaves open prospective validation of risk stratification.
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.
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Bhonsale et al. (2015) studied this question.
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