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

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.

Wolff-Parkinson-White syndrome with ventricular hypertrophy in a brazilian family

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...

Síndrome de Wolff-Parkinson-White com Hipertrofia Ventricular: Preditores de Eventos / Wolff-Parkinson-White Syndrome and Ventricular Hypertrophy: Events Predictors

Fundamentos: A síndrome do PRKAG2 é classificada como uma doença de armazenamento de glicogênio, caracterizada pela presença da síndrome de Wolff-Parkinson-White (WPW), hipertrofia ventricular (HV) e doençado sistema de condução (DSC).Objetivos: Identificar potenciais fatores prognósticos para eventos em indivíduos acometidos por essa doença edescrever as características clínicas. Métodos: Sessenta indivíduos foram acompanhados de março de 2005 a março de 2015, estratificados em doisgrupos: Grupo 1 (G1) - portadores de WPW, HV ou ambos; e Grupo 2 (G2) - indivíduos assintomáticos, comexame físico, eletrocardiograma e ecocardiograma normais. Realizados anamense, exame físico, eletrocardiograma e ecocardiograma. Quando necessário, realizou-se Holter e estudo eletrofisiológico. Resultados: Dos 60 indivíduos selecionados, 18 constituíram o G1. Destes, 11 (61,1%) tinham HV associada à WPW, 6 (33,3%) apresentavam WPW isolada e 1 (5,6%) paciente apresentava HV isolada. A média de idade foi 27,0±16,0 anos e 32 (53,3%) eram do sexo masculino. Apenas indivíduos do Grupo 1 apresentaram eventos isolados: 3 (17,0%) paradas cardíacas, 2 (11,0%) mortes súbitas, 6 (33,0%) implantes de marca-passo, 4 (22,0%) acidentes isquêmicos encefálicos transitórios e 9 (50,0%) eventos combinados. Os potenciais preditores de eventos combinados foram: tamanho de átrio esquerdo (p=0,07) diabetes mellitus (p=0,05) e os bloqueios atrioventriculares (p=0,019). Esses fatores não evidenciaram significância estatística, quando comparados na análise de regressão de Cox. Conclusões: Em portadores de WPW com hipertrofia ventricular ocorreu associação entre diabetes mellitus, bloqueio atrioventricular e tamanho de átrio esquerdo com os principais desfechos.

Background: The PRKAG2 syndrome is classified as a glycogen storage disease, characterized by the presence of the Wolff Parkinson-Whitesyndrome (WPW), ventricular hypertrophy (VH) and conduction system disease (CSD). Objectives: Finding potential prognostic factors for events in individuals affected by this disease and describing the clinical characteristics. Methods: Sixty individuals were monitored from March 2005 to March 2015, being divided into two groups: Group 1 (G1) - patients with WPW, VH or both; and Group 2 (G2) - asymptomatic patients, with normal physical examination, electrocardiogram and echocardiography. It included the performance of medical history, physical examination, electrocardiogram and echocardiogram. Holter and electrophysiological study were performed when necessary. Results: G1 was made of 18 out of the 60 patients selected. Of these, 11 (61.1%) had VH related to WPW, 6 (33.3%) had isolated WPW and 1 (5.6%) patient had isolated VH. The mean age was 27.0±16.0 years and 32 (53.3%) were male. Only the patients in Group 1 had isolated events: 3 (17.0%) cardiac arrests, 2 (11.0%) sudden deaths, 6 (33.0%) pacemaker implants, 4 (22.0%) transient ischemic attacks and 9 (50.0%) combined events. The events predictors in potential combined were: left atrium size (p=0.07) diabetes mellitus (p=0.05) and the atrioventricular blocks (p=0.019). Those factors did not have statistic significance when compared in the Cox regression analysis. Conclusions: In WPV patients with ventricular hypertrophy there was an association of diabetes mellitus, atrioventricular blockand left atrium size with the main outcomes.