Wolff-Parkinson-White Syndrome with Ventricular Hypertrophy in a Brazilian Family

Abstract

Case seriesPatient: —Final Diagnosis: PRKAG2 syndromeSymptoms: Palpitation • dyspnea and fatigue • syncopeMedication: —Clinical Procedure: Radiofrequency catheter ablation • pacemaker implantion • antiarrhythmic drugsSpecialty: CardiologyObjective:Rare diseaseBackground: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.

As “Cinco Ondas Malignas” da Eletrocardiografia

“…5 A associação entre a SWPW e a hipertrofia ventricular tem sido descrita como uma variante genética, podendo estar associado a doenças do sistema de condução, caracterizando a Síndrome PRKAG2, com presença de taquiarritmias frequentes, morte súbita e BAV total. 11 …”

“…5 The association between WPWS and ventricular hypertrophy has been described as a genetic variant, and may been associated to the presence of frequent tachyarrhythmias, sudden death and complete AV Block. 11 …”

A Neonate Diagnosed with Wolff-Parkinson-White Syndrome Presenting with Cardiogenic Shock

“…The familial inheritance pattern is autosomaldominant and related genetic variations are known 10) . Chromosome 20 abnormalities induce HCM with WPW syndrome, and mutations of the protein kinase AMP-activated non-catalytic subunit gamma 2 (PRKAG2) gene on chromosome 7 induces cardiac glycogen overload 11) . Genetic analysis is necessary for understanding the inheritance patterns of familial WPW syndrome and future gene therapy.…”

Controversial molecular functions of CBS versus non‐CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review

“…The incidence of PCS is low, and since the clinical manifestations are diverse, the misdiagnosis rate is relatively high (Banankhah et al, 2018 ). PRKAG2 syndrome is a progressive cardiomyopathy characterized by high rates of atrial fibrillation, conduction disease, advanced heart failure, and life‐threatening arrhythmias (Beyzaei et al, 2021 ; Coban‐Akdemir et al, 2020 ; Jääskeläinen et al, 2019 ; Maron & Maron, 2020 ; Pena et al, 2021 ; Spentzou et al, 2020 ; van der Steld et al, 2017 ). Dominant variants of PRKAG2 seldom occur in sporadic cases but appear to run in families.…”