A rapid scoring tool to assess mutation probability in patients with inherited cardiac disorders

Abstract

Aims: To explore clinical features and relationship with positive mutation ascertainment in inherited heart diseases in order to develop a clinical tool to assist identification of individuals in whom to offer genetic testing. A clinical tool that increases pre test probability of mutation detection would have the benefits of improving patient counselling, prioritising cases for MPS and allowing equity in decision making. Methods and results: Consecutive MPS mutation detection testing cases were identified (September 2014 - December 2015, n = 126). Cases were scored for the presence of pre-determined clinical and family history variables, blinded to MPS results. Subsequent unblinding allowed..