Key result
Among 18 affected members of a Brazilian family with a novel PRKAG2 mutation, clinical manifestations included syncope (83.3%) and sudden cardiac death (11.1%), with 33.3% requiring pacemakers.
Case Report (n=60)
This study describes the clinical presentation and management of a rare PRKAG2 syndrome in a Brazilian family, identifying a novel pathogenic variant (p.K290I).
BACKGROUND PRKAG2 syndrome diagnosis is already well-defined as Wolff-Parkinson-White syndrome (WPW), ventricular hypertrophy (VH) due to glycogen accumulation, and conduction system disease (CSD). Because of its rarity, there is a lack of literature focused on the treatment. The present study aimed to describe appropriate strategies for the treatment of affected family members with PRKAG2 syndrome with a long follow-up period. CASE REPORT We studied 60 selected individuals from 84 family members (32 males, 53.3%) (mean age 27±16 years). Patients with WPW and/or VH were placed in a group of 18 individuals, in which 11 (61.1%) had VH and WPW, 6 (33.3%) had isolated WPW, and 1 (5.6%) had isolated VH. Palpitations occurred in 16 patients (88.9%), chest pain in 11 (61.1%), dizziness in 13 (72.2%), syncope in 15 (83.3%), and dyspnea in 13 (72%). Sudden cardiac death (SCD) occurred in 2 (11.1%), and 2 patients with cardiac arrest (CA) had asystole and pre-excited atrial flutter-fibrillation (AFL and AF) as the documented mechanism. Transient ischemic attack (TIA) and learning/language disabilities with delayed development were observed. Genetic analysis identified a new missense pathogenic variant (p.K290I) in the PRKAG2 gene. Cardiac histopathology demonstrated the predominance of vacuoles containing glycogen derivative and fibrosis. The treatment was based on hypertension and diabetes mellitus (DM) control, antiarrhythmic drugs (AD), anticoagulation, and radiofrequency catheter ablation (RCA). Six patients (33.3%) underwent pacemaker implantation (PM). CONCLUSIONS The present study describes the clinical treatment for a rare cardiac syndrome caused by a PRKAG2 mutation.
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Steld et al. (2017) conducted a case report in PRKAG2 syndrome (n=60). Clinical management (antiarrhythmic drugs, anticoagulation, radiofrequency catheter ablation, pacemaker implantation) was evaluated. Among 18 affected members of a Brazilian family with a novel PRKAG2 mutation, clinical manifestations included syncope (83.3%) and sudden cardiac death (11.1%), with 33.3% requiring pacemakers.
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