Conclusion:
We present a case of a young male with a newly diagnosed isolated JUP
gene mutation and a genetically diagnosed family history of ARVC. During
his course, he demonstrated the progression of a characteristic epsilon
wave on ECG and the presence of new, atypical, left ventricular
fibrosis on repeat CMR imaging. This case demonstrates a complex
interplay between variable genetic penetrance, phenotypical
heterogeneity, and lifestyle factors including exercise, in his disease
expression and provides insight on the natural course of an isolated JUP
mutation. Although rare, clinicians should have a high threshold for the
suspicion of ARVC or variants of this disorder even in the absence of
classic right sided pathologies and /or an initially normal work-up.