Hasdemir, CanPayzin, SerdarKocabas, UmutSahin, HaticeYildirim, NihalAlp, AlpayAydin, MehmetPfeiffer, RyanBurashnikov, ElenaWu, YueshengAntzelevitch, Charles2019-10-272019-10-2720151547-52711556-3871https://doi.org/10.1016/j.hrthm.2015.03.015https://hdl.handle.net/11454/42062BACKGROUND Atrioventricular nodal reentrant tachycardia (AVNRT) may coexist with Brugada syndrome (BrS). OBJECTIVES The present study was designed to determine the prevalence of drug-induced type 1 Brugada ECG pattern (concealed BrS) in patients presenting with clinical spontaneous AVNRT and to investigate their electrocardiographic, electrophysiological, and genetic characteristics. METHODS Ninety-six consecutive patients without any sign of BrS on baseline electrocardiogram undergoing electrophysiological study and ablation for symptomatic, drug-resistant AVNRT and 66 control subjects underwent an ajmaline challenge to unmask BrS. Genetic screening was performed in 17 patients displaying both AVNRT and BrS. RESULTS A concealed BrS electrocardiogram was uncovered in 26 of 96 patients with AVNRT (27.1%) and in 3 of 66 control subjects (4.5%) (P <= .001). Patients with concealed BrS were predominantly female patients (n = 23 [88.5%] vs n = 44 [62.9%], P = .015), had higher prevalence of chest pain (n = 10 [38.5%] vs n = 13 [18.6%], p = 0.042), migraine headaches (n = 10 [38.5%] vs n = 10 [14.2%], p = 0.008), and drug-induced initiation and/or worsening of duration and/or frequency of AVNRT (n = 4 [15.4%] vs n = 1 [1.4%], p = 0.006) as compared to patients with AVNRT without BrS. Genetic screening identified 19 mutations or rare variants in 13 genes in 13 of 17 patients with both AVNRT and BrS (yield = 76.5%). Ten of these 13 genotype-positive patients (76.9%) harbored genetic variants known or suspected to cause a loss of function of cardiac sodium channel current (SCN5A, SCN10A, SCN1B, GPD1L, PKP2, and HEY2). CONCLUSION Our results suggest that spontaneous AVNRT and concealed BrS co-occur, particularly in female patients, and that genetic variants that reduce sodium channel current may provide a mechanistic link between AVNRT and BrS and predispose to expression of both phenotypes.en10.1016/j.hrthm.2015.03.015info:eu-repo/semantics/closedAccessBrugada syndromeAtrioventricular nodal reentrant tachycardiaSupraventricular tachycardiaGeneticsArticle12715841594WOS:00035676650003425998140Q1Q1