Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Madrid, Spain; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares, Madrid, Spain; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart.
Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Madrid, Spain; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares, Madrid, Spain; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart; Myocardial Biology Program, Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain.
J Am Coll Cardiol. 2020 Jul 14;76(2):186-197. doi: 10.1016/j.jacc.2020.05.029.
PRKAG2 gene variants cause a syndrome characterized by cardiomyopathy, conduction disease, and ventricular pre-excitation. Only a small number of cases have been reported to date, and the natural history of the disease is poorly understood.
The aim of this study was to describe phenotype and natural history of PRKAG2 variants in a large multicenter European cohort.
Clinical, electrocardiographic, and echocardiographic data from 90 subjects with PRKAG2 variants (53% men; median age 33 years; interquartile range [IQR]: 15 to 50 years) recruited from 27 centers were retrospectively studied.
At first evaluation, 93% of patients were in New York Heart Association functional class I or II. Maximum left ventricular wall thickness was 18 ± 8 mm, and left ventricular ejection fraction was 61 ± 12%. Left ventricular hypertrophy (LVH) was present in 60 subjects (67%) at baseline. Thirty patients (33%) had ventricular pre-excitation or had undergone accessory pathway ablation; 17 (19%) had pacemakers (median age at implantation 36 years; IQR: 27 to 46 years), and 16 (18%) had atrial fibrillation (median age 43 years; IQR: 31 to 54 years). After a median follow-up period of 6 years (IQR: 2.3 to 13.9 years), 71% of subjects had LVH, 29% had AF, 21% required de novo pacemakers (median age at implantation 37 years; IQR: 29 to 48 years), 14% required admission for heart failure, 8% experienced sudden cardiac death or equivalent, 4% required heart transplantation, and 13% died.
PRKAG2 syndrome is a progressive cardiomyopathy characterized by high rates of atrial fibrillation, conduction disease, advanced heart failure, and life-threatening arrhythmias. Classical features of pre-excitation and severe LVH are not uniformly present, and diagnosis should be considered in patients with LVH who develop atrial fibrillation or require permanent pacemakers at a young age.
PRKAG2 基因突变会导致一种以心肌病、传导疾病和心室预激为特征的综合征。迄今为止，仅有少数病例报道，该疾病的自然病史了解甚少。
本研究旨在描述一个大型欧洲多中心队列中 PRKAG2 变异患者的表型和自然病史。
回顾性研究了 27 个中心招募的 90 名 PRKAG2 变异患者（53%为男性；中位年龄 33 岁；四分位距 [IQR]：15 至 50 岁）的临床、心电图和超声心动图数据。
首次评估时，93%的患者纽约心脏协会心功能分级为 I 或 II 级。最大左心室壁厚度为 18 ± 8mm，左心室射血分数为 61 ± 12%。基线时有 60 名患者（67%）存在左心室肥厚（LVH）。30 名患者（33%）存在心室预激或已行旁路消融术；17 名（19%）患者植入了起搏器（中位年龄 36 岁；IQR：27 至 46 岁），16 名（18%）患者患有心房颤动（中位年龄 43 岁；IQR：31 至 54 岁）。中位随访 6 年（IQR：2.3 至 13.9 年）后，71%的患者存在 LVH，29%的患者存在心房颤动，21%的患者需要新植入起搏器（中位年龄 37 岁；IQR：29 至 48 岁），14%的患者因心力衰竭住院，8%的患者发生心源性猝死或类似事件，4%的患者需要心脏移植，13%的患者死亡。
PRKAG2 综合征是一种进行性心肌病，其特征为心房颤动、传导疾病、晚期心力衰竭和危及生命的心律失常发生率较高。预激和严重 LVH 的典型特征并非普遍存在，对于年轻患者出现心房颤动或需要永久性起搏器的 LVH 患者，应考虑诊断该疾病。
