High-Risk Cardiomyopathy Genotypes and Arrhythmic Risk: LMNA, FLNC, RBM20, PLN and Desmosomal Genes in the ESC 2023 Era

LMNA, FLNC, RBM20, PLN (high arrhythmic risk cardiomyopathy genes)

Review of biology and clinical risk of LMNA, FLNC, RBM20, PLN and desmosomal genotypes in non-ischemic cardiomyopathies; integration of ESC 2023 arrhythmic risk criteria that incorporate genotype as an independent factor (beyond LVEF)

Synthetic review of inherited cardiomyopathy genotypes associated with high ventricular arrhythmic risk and sudden cardiac death, in the context of the new ESC 2023 guidelines. Genes considered are LMNA, FLNC, RBM20, PLN and desmosomal genes (PKP2, DSP, DSG2, DSC2, JUP). The article integrates ESC 2023 risk criteria that recognize genotype as an independent risk factor beyond LVEF for ICD indication, reducing the risk of under-diagnosis in non-ischemic cardiomyopathies.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

LMNA, FLNC and RBM20 genotypes warrant close surveillance and ICD discussion even with preserved LVEF. Genetic testing is now inseparable from the therapeutic strategy in hereditary cardiomyopathies. Useful reference for geneticists and cardiologists.

direct clinical impact (ICD indication) +3; ESC 2023 new guidelines review +2; multiple actionable genes +2