10 July 2017 : Case report
Wolff-Parkinson-White Syndrome with Ventricular Hypertrophy in a Brazilian Family
Challenging differential diagnosis, Diagnostic / therapeutic accidents, Management of emergency care, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis), Rare coexistence of disease or pathology
Lenises de Paula van der Steld1ABCDEFG*, Oscar Campuzano234ACDEF, Alexandra Pérez-Serra23E, Mabel Moura de Barros Zamorano5BCD, Selma Sousa Matos6B, Ramon Brugada2347BEGDOI: 10.12659/AJCR.904613
Am J Case Rep 2017; 18:766-776
Abstract
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.
Keywords: Cardiomyopathy, Hypertrophic, Familial, Death, Sudden, Cardiac, Wolff-Parkinson-White Syndrome
In Press
16 Mar 2024 : Case report
Castleman Disease Presenting in the Neck: A Report of 3 Cases and a Literature ReviewAm J Case Rep In Press; DOI: 10.12659/AJCR.943214
16 Mar 2024 : Case report
Early Diagnosis and Successful Empirical Treatment of L1-L2 Spondylodiscitis in a 21-Month-Old Girl: A Case...Am J Case Rep In Press; DOI: 10.12659/AJCR.943010
16 Mar 2024 : Case report
A Rare Autochthonous Case of Hepatic Hydatid Cyst in the Non-Endemic Region of TaiwanAm J Case Rep In Press; DOI: 10.12659/AJCR.943687
17 Mar 2024 : Case report
Contrast-Enhanced Ultrasonography in Diagnosing Intravascular Large B-Cell Lymphoma Infiltrating Liver Sinu...Am J Case Rep In Press; DOI: 10.12659/AJCR.943070
Most Viewed Current Articles
07 Mar 2024 : Case report
Neurocysticercosis Presenting as Migraine in the United StatesDOI :10.12659/AJCR.943133
Am J Case Rep 2024; 25:e943133
10 Jan 2022 : Case report
A Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...DOI :10.12659/AJCR.935263
Am J Case Rep 2022; 23:e935263
19 Jul 2022 : Case report
Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19DOI :10.12659/AJCR.936128
Am J Case Rep 2022; 23:e936128
23 Feb 2022 : Case report
Penile Necrosis Associated with Local Intravenous Injection of CocaineDOI :10.12659/AJCR.935250
Am J Case Rep 2022; 23:e935250