Does genetic risk stratification improve sudden cardiac death risk prediction compared to traditional left ventricular systolic function assessment in patients with arrhythmogenic left ventricular cardiomyopathy?
In arrhythmogenic left ventricular cardiomyopathy, genetic diagnosis is crucial for risk stratification as traditional LVEF assessment is an insensitive predictor of sudden cardiac death.
Arrhythmogenic left ventricular cardiomyopathy is characterized by early malignant ventricular arrhythmia associated with varying degrees and times of onset of left ventricular dysfunction. Variants in numerous genes have been associated with this phenotype. Here, the authors review the literature on recent cohort studies of patients with variants in desmoplakin, lamin A/C, filamin-C, phospholamban, RBM20, TMEM43, and selected channelopathy genes also associated with structural disease. Unlike traditional sudden cardiac death risk assessment in nonischemic cardiomyopathy, left ventricular systolic function is an insensitive predictor of risk in patients with these genetic diagnoses.
Desai et al. (2025) studied this question.