Arrhythmogenic right ventricular dysplasia - A United States experience
Arrhythmogenic right ventricular dysplasia - A United States experience
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DOI：
10.1161/circulationaha.105.542266
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发表时间：
2005-12-20
期刊：
影响因子：
37.8
通讯作者：
Calkins, H
中科院分区：
文献类型：
--
作者：
Dalal, D;Nasir, K;Calkins, H
背景-致心律失常性右心室发育不良（ARVD）是一种遗传性心肌病，其特征是右心室功能障碍和室性心律失常。我们研究的目的是描述来自美国的一大群 ARVD 患者的表现、临床特征、生存率和自然史。方法和结果 - 患者群体包括 100 名 ARVD 患者（51 名男性；就诊时的中位年龄为 26 岁[四分位数范围 {IQR}，18 至 38；范围为 2 至 70] 岁）。在 32 名患者中观察到了家族模式。最常见的症状是心悸、晕厥和心源性猝死 (SCD)，分别占 27%、26% 和 23% 的患者。在活着时被诊断的患者 (n = 69) 中，首次就诊和诊断之间的中位时间为 1 年（范围，0 至 37）。在中位随访 6 年（IQR，2 至 13；范围，0 至 37）年期间，47 名患者植入了植入式心脏复律器/除颤器 (ICD)，其中 29 名患者接受了适当的 ICD 出院，其中 3 名患者接受 ICD 进行一级预防。随访时，66 名患者还活着，其中 44 名患者安装了 ICD，5 名患者出现心力衰竭症状，2 名患者接受了心脏移植，18 名患者正在接受药物治疗。 34 名患者在就诊时死亡（n = 23：21 例 SCD，2 例非心源性死亡）或在随访期间死亡（n = 11：10 例 SCD，1 例双心室心力衰竭），其中只有 3 例在生前被诊断出来，1 例植入了 ICD。根据 Kaplan-Meier 分析，整个人群的中位生存期为 60 年。结论 - ARVD 患者在生命的第二个和第五个十年之间要么出现与室性心动过速或 SCD 相关的心悸和晕厥症状。诊断常常被延误。一旦诊断并用 ICD 治疗，死亡率很低。 ARVD 患者的表现和病程存在很大差异，这可能是由于该疾病的遗传异质性所致。
Background - Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cardiomyopathy characterized by right ventricular dysfunction and ventricular arrhythmias. The purpose of our study was to describe the presentation, clinical features, survival, and natural history of ARVD in a large cohort of patients from the United States.Methods and Results - The patient population included 100 ARVD patients (51 male; median age at presentation, 26 [interquartile range {IQR}, 18 to 38; range, 2 to 70] years). A familial pattern was observed in 32 patients. The most common presenting symptoms were palpitations, syncope, and sudden cardiac death (SCD) in 27%, 26%, and 23% of patients, respectively. Among those who were diagnosed while living (n = 69), the median time between first presentation and diagnosis was 1 (range, 0 to 37) year. During a median follow-up of 6 (IQR, 2 to 13; range, 0 to 37) years, implantable cardioverter/defibrillators (ICD) were implanted in 47 patients, 29 of whom received an appropriate ICD discharge, including 3 patients who received the ICD for primary prevention. At follow-up, 66 patients were alive, of whom 44 had an ICD in place, 5 developed signs of heart failure, 2 had a heart transplant, and 18 were on drug therapy. Thirty-four patients died either at presentation (n = 23: 21 SCD, 2 noncardiac deaths) or during follow-up (n = 11: 10 SCD, 1 of biventricular heart failure), of whom only 3 were diagnosed while living and 1 had an ICD implanted. On Kaplan-Meier analysis, the median survival in the entire population was 60 years.Conclusions - ARVD patients present between the second and fifth decades of life either with symptoms of palpitations and syncope associated with ventricular tachycardia or with SCD. Diagnosis is often delayed. Once diagnosed and treated with an ICD, mortality is low. There is a wide variation in presentation and course of ARVD patients, which can likely be explained by the genetic heterogeneity of the disease.