Does prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveal a need to broaden diagnostic criteria?
By using current diagnostic criteria, familial disease was present in 28% of index patients. A further 11% of their relatives had minor cardiac abnormalities, which, in the context of a disease whose mode of inheritance is autosomal dominant, are likely to represent early or mild disease expression. We advocate that the current ARVC diagnostic criteria are modified to reflect the broader spectrum of disease that is observed in family members.
Premotor-motor circuits appear hyporesponsive in dopa-responsive dystonia.