The PRKAG2 syndrome is a rare autosomal dominant phenocopy of sarcomeric hypertrophic cardiomyopathy (HCM), characterized by ventricular pre-excitation, progressive conduction system disease and left ventricular hypertrophy. This study describes the phenotype, genotype and clinical outcomes of a South-Asian PRKAG2 cardiomyopathy cohort over a 7-year period. Clinical, electrocardiographic, echocardiographic, and cardiac MRI data from 22 individuals with PRKAG2 variants (68% men; mean age 39.5 ± 18.1 years), identified at our HCM centre were studied prospectively. At initial evaluation, all of the patients were in NYHA functional class I or II. The maximum left ventricular wall thickness was 22.9 ± 8.7 mm and left ventricular ejection fraction was 53.4 ± 6.6%. Left ventricular hypertrophy was present in 19 individuals (86%) at baseline. 17 patients had an WPW pattern (77%). After a mean follow-up period of 7 years, 2 patients had undergone accessory pathway ablation, 8 patients (36%) underwent permanent pacemaker implantation (atrio-ventricular blocks—5; sinus node disease—2), 3 patients developed atrial fibrillation, 11 patients (50%) developed progressive worsening in NYHA functional class, and 6 patients (27%) experienced sudden cardiac death or equivalent. PRKAG2 cardiomyopathy must be considered in patients with HCM and progressive conduction system disease.

PRKAG2综合征是一种罕见的肌节型肥厚型心肌病（HCM）的常染色体显性表型，其特征在于心室预激，进行性传导系统疾病和左心室肥大。这项研究描述了南亚PRKAG2心肌病队列在7年内的表型，基因型和临床结局。在我们的HCM中心对前瞻性研究研究了来自22名PRKAG2变异个体（68％的男性；平均年龄39.5±18.1岁）的个人的临床，心电图，超声心动图和心脏MRI数据。初步评估时，所有患者均处于NYHA功能I或II级。左心室最大壁厚为22.9±8.7 mm，左心室射血分数为53.4±6.6％。基线时有19个人（86％）存在左心室肥大。17名患者有WPW模式（77％）。平均随访7年后，有2例患者经历了辅助途径消融，有8例患者（36％）接受了永久性起搏器植入（房室传导阻滞-5；窦房结疾病-2），3例发生了房颤， 11例患者（50％）在NYHA功能类别中进展性恶化，6例患者（27％）经历了心脏性猝死或相当程度的死亡。HCM和进行性传导系统疾病的患者必须考虑PRKAG2心肌病。11例患者（50％）在NYHA功能类别中进展性恶化，6例患者（27％）经历了心脏猝死或相当程度的死亡。HCM和进行性传导系统疾病的患者必须考虑PRKAG2心肌病。11例患者（50％）在NYHA功能类别中进展性恶化，6例患者（27％）经历了心脏猝死或相当程度的死亡。HCM和进行性传导系统疾病的患者必须考虑PRKAG2心肌病。