致心律失常性右室心肌病患者的心力衰竭：遗传特征。
Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy: Genetic characteristics.
机构信息
Medical Outpatient Department, University Hospital Basel, Basel, Switzerland.
Istituto Auxologico Italiano, IRCCS, Center for Cardiac Arrhythmia of Genetic Origin, Milan, Italy.
出版信息
Int J Cardiol. 2019 Jul 1;286:99-103. doi: 10.1016/j.ijcard.2019.01.065. Epub 2019 Jan 27.
BACKGROUND
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart muscle disorder. The incidence of heart failure (HF) in ARVC has been reported at 5-13%. We aimed to define the genotype and disease progression of ARVC patients with HF.
METHODS
Patients with a definite diagnosis of ARVC who underwent genetic testing were consecutively recruited. Detailed clinical data was collected at baseline and during follow up. Clinical endpoint was a composite of heart transplantation and death due to HF.
RESULTS
135 patients were included. 8 (5.9%) patients reached the endpoint. Patients reaching the endpoint were significantly more likely to carry a Plakophilin 2 mutation than patients without HF, and 50% had multiple variants, however only one patient had 2 pathogenic mutations.
CONCLUSIONS
HF is a rare but significant outcome of patients with a definite diagnosis of ARVC. Patients with HF predominantly carried Plakophilin 2 mutations and often had multiple variants. RV dysfunction appears to be a determinant of heart transplantation and death.
背景
致心律失常性右室心肌病（ARVC）是一种由基因决定的心肌疾病。ARVC 患者心力衰竭（HF）的发病率为 5-13%。我们旨在确定 HF 的 ARVC 患者的基因型和疾病进展。
方法
连续招募了接受基因检测并明确诊断为 ARVC 的患者。在基线和随访期间收集详细的临床数据。临床终点是心脏移植和 HF 导致的死亡的复合终点。
结果
共纳入 135 例患者。8 例（5.9%）患者达到终点。达到终点的患者携带 plakophilin 2 突变的可能性明显高于无 HF 的患者，且 50%的患者有多个变体，但只有 1 例患者有 2 个致病性突变。
结论
HF 是明确诊断的 ARVC 患者的罕见但严重的结局。HF 患者主要携带 plakophilin 2 突变，且常有多个变体。RV 功能障碍似乎是心脏移植和死亡的决定因素。
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