致心律失常性右心室心肌病(ARVC)是一种常染色体显性遗传和年龄相关不完全外显率的复杂心肌病,以心脏性猝死的高风险为特征。最近的专业共识指南建议对有风险的家庭成员进行临床心脏终身连续筛查,仅按年龄分类。但是家族基因型可能会影响必要的筛查。尽管许多研究报告了家庭成员中疾病和心律失常的患病率,并探讨了外显率和心律失常风险的预测因素,缺乏对这一证据进行系统的审查.
我们搜索了Medline(PubMed),Embase,科克伦图书馆,和WebofScience的研究报告了(1)根据2010年工作组标准诊断ARVC和/或(2)在至少10名明确的ARVC患者的家庭成员中持续室性心律失常(VA)的患病率。
我们确定了41项研究,包括36例根据工作队标准报告诊断的患者和22例VA。1359名家庭成员的Meta分析,根据工作组标准,13个独特队列的平均患病率估计值为25%(95%CI,0.15~0.35,I2=96.44%).在7项独立研究(n=597)中,VA在基因阳性家族成员中的总体患病率为18%(95%CI,0.13-0.23,I2=33.25%)。家族基因型是诊断两种ARVC的显著危险因素(比值比,6.91[95%CI,1.27-37.70];P=0.0005)和VA(比值比,13.62[95%CI,0.91-204.13];P=0.06)。男性与疾病患病率无关(比值比,1.18[95%CI,0.72-1.95];P=0.42)或VA(比值比,0.81[95%CI,0.51-1.29];P=0.91)。
危险家庭成员中ARVC和VA的患病率因家庭基因型而异。尽管最近的建议仅提供了基于年龄的指南,我们建议每1至2年筛查基因阳性的家庭成员,每3至5年筛查一级亲属的基因难以捉摸的病例,只要他们无症状而不是运动员。
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a complex cardiomyopathy with autosomal dominant inheritance and age-related incomplete penetrance, characterized by a high risk of sudden cardiac death. Recent professional consensus guidelines recommend clinical cardiac lifelong serial screening for at-risk family members refined only by age, but family genotype might influence necessary screening. Although numerous studies report prevalence of disease and arrhythmia in family members and explore predictors of penetrance and arrhythmic risk, a systematic
review consolidating this evidence is lacking.
We searched Medline (PubMed), Embase, The Cochrane Library, and Web of Science for studies that reported prevalence of (1) diagnosis of ARVC per 2010 Task Force Criteria and/or (2) sustained ventricular arrhythmias (VA) in at least 10 family members of definite patients with ARVC.
We identified 41 studies, including 36 that reported diagnosis by Task Force Criteria and 22 VA. Meta-analysis of 1359 family members, from 13 unique cohorts showed an average prevalence estimate of 25% for diagnosis as per Task Force Criteria (95% CI, 0.15-0.35, I2=96.44%). Overall prevalence of VA among gene-positive family members was 18% (95% CI, 0.13-0.23, I2=33.25%) in 7 independent studies (n=597). Family genotype was a significant risk factor for diagnosis of both ARVC (odds ratio, 6.91 [95% CI, 1.27-37.70]; P=0.0005) and VA (odds ratio, 13.62 [95% CI, 0.91-204.13]; P=0.06). Male gender was not associated with disease prevalence (odds ratio, 1.18 [95% CI, 0.72-1.95]; P=0.42) or VA (odds ratio, 0.81 [95% CI, 0.51-1.29]; P=0.91).
The prevalence of ARVC and VA in at-risk family members differs significantly based on family genotype. Although recent recommendations provide a guideline based only on age, we propose screening every 1 to 2 years for gene-positive family members and every 3 to 5 years for first-degree relatives of gene-elusive cases, as long as they are asymptomatic and not athletes.