Influence of Genotype on Structural Atrial Abnormalities and Atrial Fibrillation or Flutter in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Abstract

Genotype influences atrial volume and occurrence of AA in ARVD/C. While the incidence of AA is similar in PKP2 mutation carriers and patients with no mutation identified, PKP2 mutation carriers have significantly smaller atria. This suggests a different arrhythmogenic mechanism.

Atrial involvement in arrhythmogenic right ventricular cardiomyopathy patients referred for ventricular arrhythmias ablation

“…7 Mutation carriers, especially PKP2, had a higher proportion of a history of VT and more inducible fast rate VT. 7 Another study showed the incidence of ATa is similar in PKP2 mutation carriers and noncarriers, PKP2 mutation carriers have significantly smaller atria. 18 Data from our study showed the similar results in ATa, but we found no significant difference in LA size.…”

Atrial arrhythmias in patients with arrhythmogenic right ventricular cardiomyopathy: Prevalence, echocardiographic predictors, and treatment

“…In our cohort, one patient (4%) with AA suffered inappropriate ICD shocks. However, prior studies have reported that inappropriate ICD therapies occur in roughly 30% of patients with ARVC with AA after a mean follow‐up of 5.8 years …”

“…In our cohort, however, we did not observe a difference in the incidence of desmosomal mutations between ARVC patients with and without AA. Similar findings were found by Camm et al and Bourfiss et al The latter, studied the influence of genotype on AA in patients with ARVC and they grouped patients by the presence of the desmosomal PKP2 mutation, nondesmosomal phospholamban (PLN) mutation, or no pathogenic mutation. They reported that the incidence of AA was comparable between patients with PKP2 mutations or no mutations, but decreased in patients with the PLN mutation.…”

“…They reported that the incidence of AA was comparable between patients with PKP2 mutations or no mutations, but decreased in patients with the PLN mutation. Interestingly, compared with controls (patients with idiopathic RVOT tachycardia) carriers of the PKP2 mutation were found to have significantly reduced RA size, and comparable in PLN mutation carriers …”

“…However, prior studies have reported that inappropriate ICD therapies occur in roughly 30% of patients with ARVC with AA after a mean follow-up of 5.8 years. 11,12,21 One of the critical questions that our study raises is whether some ARVC patients are at increased risk of developing AA due to worsening RV function resulting in RA enlargement or whether there are desmosomal alterations in the atrial tissue itself that promote fibrosis.…”