Ventricular tachycardia ablation in arrhythmogenic right ventricular cardiomyopathy patients with TMEM43 gene mutations

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Excerpt

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined myocardial disease characterized by fibrofatty replacement of the ventricular myocardium, mostly affecting the right ventricle.1 Ventricular tachyarrhythmias can be seen in the early stages of the disease, which is one of the most important causes of sudden death in young healthy individuals.4 Radiofrequency (RF) catheter ablation, in this patient population, is an established treatment option to prevent or reduce recurrent ventricular tachycardias (VT) as well as to reduce the frequency of defibrillator therapies.6 However, variable acute and long‐term outcomes have been reported.7 Repeated VT ablation procedures are frequently required, and many would advocate for early epicardial mapping and ablation.11
Mutations in desmosomal genes underlie several genetic subtypes of ARVC, suggesting that ARVC is primarily a disease of cell‐to‐cell adhesion.12 Other less common nondesmosomal gene mutations have been reported including cardiac ryanodine receptor 2 (RYR2),17 transforming growth factor beta‐3 (TGFβ‐3),18 phospholamban (PLN)19 and transmembrane protein‐43 (TMEM‐43).20 A TMEM‐43 missense gene mutation is an important cause of ARVC in Atlantic Canada where it was originally described on the island of Newfoundland.20 It has also been reported in non‐Newfoundland populations.21 It is characterized by more aggressive disease with earlier left ventricular (LV) involvement and subsequent development of heart failure, need for transplantation or death.20
To our knowledge, there are no data regarding the outcomes of catheter ablation of VT within this subset of patients. Our aim was to compare VT ablation acute and long‐term outcomes for ARVC patients with and without TMEM43 mutations.
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