Conclusion:
We present a case of a young male with a family history of ventricular
arrhythmias, who had two separate hospitalizations for pre-syncope with
the manifestations of ARVC including the development of an epsilon wave
on ECG along with atypical, left sided myocardial dysfunction and the
development of left ventricular fibrosis on repeat CMR scan. He was
found to have an isolated JUP mutation with other family members having
multiple abnormal genes for ARVC. The timing and manifestations of these
findings over two separate hospitalizations have been seldom reported,
particularly with only any isolated JUP mutation. Since its discovery,
ARVC has undergone an evolution in diagnostic criterion due to it
variability in presentation and manifestations, as well as the discovery
of a broad spectrum and interplay of genes. Clinicians should recognize
the disease heterogeneity, as demonstrated in our case, particularly
where the initial cardiac work-up including his initial CMR study and
endomyocardial biopsy was unremarkable. Finally, this case provides
insight into the potential complex interplay in genotype and lifestyle
factors in the expression of an isolated JUP mutation, and its
involvement in various arrhythmogenic cardiomyopathies.