Isolated JUP plakoglobin gene mutation with left ventricular fibrosis in familial arrhythmogenic right ventricular cardiomyopathy.
Daniel ZinkovskyMichael R SoodPublished in: Journal of cardiovascular electrophysiology (2023)
We present a case of a young athletic 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 new, atypical, left ventricular fibrosis. This case demonstrates a complex interplay between genetic penetrance, phenotypical heterogeneity, and lifestyle factors such as exercise in disease progression and provides insight into the natural course of an isolated JUP mutation. Although rare, clinicians should have a high threshold for the clinical suspicion of ARVC or variants of this disorder even in the absence of classic right-sided pathologies.
Keyphrases
- left ventricular
- newly diagnosed
- heart failure
- physical activity
- hypertrophic cardiomyopathy
- acute myocardial infarction
- cardiac resynchronization therapy
- metabolic syndrome
- mitral valve
- cardiovascular disease
- single cell
- palliative care
- left atrial
- type diabetes
- gene expression
- coronary artery disease
- acute coronary syndrome
- percutaneous coronary intervention
- aortic valve
- atrial fibrillation
- transcatheter aortic valve replacement