Magalhães Eduardo Faria Soares de, Magalhães Luiz Pereira de, Pinheiro Jussara de Oliveira, Guabiru Alex Teixeira, Aras Roque
Universidade Federal da Bahia - Faculdade de Medicina de Bahia , Salvador , BA - Brasil.
Hospital Universitário Professor Edgard Santos , Salvador , BA - Brasil.
Arq Bras Cardiol. 2022 Sep 12;119(5):681-8. doi: 10.36660/abc.20210792.
PRKAG2 syndrome is a rare autosomal dominant disease, a phenocopy of hypertrophic cardiomyopathy characterized by intracellular glycogen accumulation. Clinical manifestations include ventricular preexcitation, cardiac conduction disorder, ventricular hypertrophy, and atrial arrhythmias.
To compare the clinical and electrophysiological characteristics observed in patients with atrial flutter, with and without PRKAG2 syndrome.
An observational study comparing patients with atrial flutter: group A consisted of five patients with PRKAG2 syndrome from a family, and group B consisted of 25 patients without phenotype of PRKAG2 syndrome. The level of significance was 5%.
All patients in group A had ventricular preexcitation and right branch block, and four had pacemakers (80%). Patients in group A were younger (39±5.4 vs 58.6±17.6 years, p=0.021), had greater interventricular septum (median=18 vs 10 mm; p<0.001) and posterior wall thickness (median=14 vs 10 mm; p=0.001). In group A, four patients were submitted to an electrophysiological study, showing a fasciculoventricular pathway, and atrial flutter ablation was performed in tree. All patients in group B were submitted to ablation of atrial flutter, with no evidence of accessory pathway. Group B had a higher prevalence of hypertension, diabetes mellitus, coronary artery disease and sleep apnea, with no statistically significant difference.
Patients with PRKAG2 syndrome presented atrial flutter at an earlier age and had fewer comorbidities when compared to patients with atrial flutter without mutation phenotype. The occurrence of atrial flutter in young individuals, especially in the presence of ventricular preexcitation and familial ventricular hypertrophy, should raise the suspicion of PRKAG2 syndrome.
PRKAG2综合征是一种罕见的常染色体显性疾病，是肥厚型心肌病的拟表型，其特征为细胞内糖原蓄积。临床表现包括心室预激、心脏传导障碍、心室肥厚和房性心律失常。
比较有和没有PRKAG2综合征的心房扑动患者的临床和电生理特征。
一项观察性研究，比较心房扑动患者：A组由来自一个家族的5例PRKAG2综合征患者组成，B组由25例无PRKAG2综合征表型的患者组成。显著性水平为5%。
A组所有患者均有室性预激和右束支传导阻滞，4例有起搏器（80%）。A组患者年龄较小（39±5.4岁对58.6±17.6岁，p=0.021），室间隔更厚（中位数=18mm对10mm；p<0.001）和后壁厚度更大（中位数=14mm对10mm；p=0.001）。A组中，4例患者接受了电生理检查，显示有分支心室通路，3例进行了心房扑动消融。B组所有患者均接受了心房扑动消融，未发现有旁路证据。B组高血压、糖尿病、冠状动脉疾病和睡眠呼吸暂停的患病率较高，但无统计学显著差异。
与无突变表型的心房扑动患者相比，PRKAG2综合征患者心房扑动发病年龄更早，合并症更少。年轻人出现心房扑动，尤其是伴有室性预激和家族性心室肥厚时，应怀疑PRKAG2综合征。
