Key result
Desmoglein-2 (DSG2) mutation carriers had a significantly higher risk of cardiac transplantation or heart failure-related death compared to PKP2 mutation carriers (log-rank P<0.001).
Why the study?
Previous studies suggested genetic status affects the clinical course of ARVC/D, but outcomes had not been compared between DSG2 and PKP2 mutation carriers.
Does the presence of a DSG2 mutation compared to a PKP2 mutation increase the risk of adverse outcomes in patients with ARVC/D?
Cohort (n=118)
Yes
Does the presence of a DSG2 mutation compared to a PKP2 mutation increase the risk of adverse outcomes in patients with ARVC/D?
p-value: p=<0.001
In patients with ARVC/D, carrying a DSG2 mutation is associated with a significantly higher risk of end-stage heart failure and left ventricular dysfunction at diagnosis compared to carrying a PKP2 mutation.
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May support closer HF monitoring in DSG2 carriers; leaves open genotype-specific strategies pending prospective validation.
Hermida et al. (2019) conducted a cohort in Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) (n=118). Desmoglein-2 (DSG2) mutation vs. Plakophilin-2 (PKP2) mutation was evaluated on Cumulative freedom from sustained ventricular arrhythmia and cardiac transplantation/death from heart failure (p=<0.001). Desmoglein-2 (DSG2) mutation carriers had a significantly higher risk of cardiac transplantation or heart failure-related death compared to PKP2 mutation carriers (log-rank P<0.001).
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