China Multi-Center Cohort Study on Risk Evaluation of Arrhythmogenic Cardiomyopathy

JACC. Asia Pub Date : 2025-07-01 DOI:10.1016/j.jacasi.2025.04.005

Yuxiao Hu MD , Zhongli Chen MD, PhD , Anteng Shi MD , Zemeng Li MD , Zixian Chen MD , Yingying Zheng MD, PhD , Xi Zhao MD, PhD , Shimo Dai MD, PhD , Yubi Lin MD, PhD , Yifei Li MD, PhD , Bing Yang MD, PhD , Xiaoyan Zhao MD, PhD , Guoliang Li MD, PhD , Xianliang Zhou MD, PhD , Shengshou Hu MD, PhD , Lingmin Wu MD, PhD , Liang Chen MD, PhD

{"title":"China Multi-Center Cohort Study on Risk Evaluation of Arrhythmogenic Cardiomyopathy","authors":"Yuxiao Hu MD , Zhongli Chen MD, PhD , Anteng Shi MD , Zemeng Li MD , Zixian Chen MD , Yingying Zheng MD, PhD , Xi Zhao MD, PhD , Shimo Dai MD, PhD , Yubi Lin MD, PhD , Yifei Li MD, PhD , Bing Yang MD, PhD , Xiaoyan Zhao MD, PhD , Guoliang Li MD, PhD , Xianliang Zhou MD, PhD , Shengshou Hu MD, PhD , Lingmin Wu MD, PhD , Liang Chen MD, PhD","doi":"10.1016/j.jacasi.2025.04.005","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><div>Arrhythmogenic cardiomyopathy (ACM) patients in China exhibit unique genetic and clinical characteristics. There is a lack of prognostic models specific to Chinese ACM patients.</div></div><div><h3>Objectives</h3><div>This study aims to establish a large, national ACM patient cohort with uniformly collected, high-quality data for future risk prediction.</div></div><div><h3>Methods</h3><div>This study includes patients with definite or borderline ACM diagnoses, along with their genotype-positive relatives. At baseline, comprehensive data collection includes medical history, electrocardiograms, imaging data, genetic testing, and laboratory evaluations. Outcome data include heart failure events and malignant ventricular arrhythmias.</div></div><div><h3>Results</h3><div>As of September 2024, the registry has enrolled 622 participants, including 552 probands (88.7%) and 70 family members (11.3%) carrying ACM-related variants. Preliminary cohort includes 577 patients (92.8%), of whom 495 were diagnosed with definite arrhythmogenic right ventricular cardiomyopathy. The median age of symptom onset was 33.0 years (Q1-Q3: 22.0-45.0 years), with 41.6% experiencing arrhythmia-related symptoms. Abnormal electrocardiogram findings included T-wave inversion (72.7%) and epsilon waves (24.8%) in leads V<sub>1</sub> to V<sub>3</sub>. Imaging evaluation revealed RV dilatation in 44.6% and left ventricular dilatation in 29.8%, with a mean left ventricular ejection fraction of 53.0% ± 14.5%. Regarding outcomes, malignant ventricular arrhythmias occurred in 255 (40.1%) individuals, while 21.9% developed end-stage heart failure, including 35 individuals who died of heart failure and 101 patients who underwent heart transplantation.</div></div><div><h3>Conclusions</h3><div>The ChinaCORE ACM (China Multi-Center Cohort Study on Risk Evaluation of Arrhythmogenic Cardiomyopathy) registry is a national, longitudinal, observational cohort study. This study contributes to expanding the understanding of the disease spectrum of Chinese ACM patients and improving prognostic predictions.</div></div>","PeriodicalId":73529,"journal":{"name":"JACC. Asia","volume":"5 7","pages":"Pages 914-923"},"PeriodicalIF":0.0000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"JACC. Asia","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2772374725002339","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}

引用次数: 0

Abstract

Background

Arrhythmogenic cardiomyopathy (ACM) patients in China exhibit unique genetic and clinical characteristics. There is a lack of prognostic models specific to Chinese ACM patients.

Objectives

This study aims to establish a large, national ACM patient cohort with uniformly collected, high-quality data for future risk prediction.

Methods

This study includes patients with definite or borderline ACM diagnoses, along with their genotype-positive relatives. At baseline, comprehensive data collection includes medical history, electrocardiograms, imaging data, genetic testing, and laboratory evaluations. Outcome data include heart failure events and malignant ventricular arrhythmias.

Results

As of September 2024, the registry has enrolled 622 participants, including 552 probands (88.7%) and 70 family members (11.3%) carrying ACM-related variants. Preliminary cohort includes 577 patients (92.8%), of whom 495 were diagnosed with definite arrhythmogenic right ventricular cardiomyopathy. The median age of symptom onset was 33.0 years (Q1-Q3: 22.0-45.0 years), with 41.6% experiencing arrhythmia-related symptoms. Abnormal electrocardiogram findings included T-wave inversion (72.7%) and epsilon waves (24.8%) in leads V₁ to V₃. Imaging evaluation revealed RV dilatation in 44.6% and left ventricular dilatation in 29.8%, with a mean left ventricular ejection fraction of 53.0% ± 14.5%. Regarding outcomes, malignant ventricular arrhythmias occurred in 255 (40.1%) individuals, while 21.9% developed end-stage heart failure, including 35 individuals who died of heart failure and 101 patients who underwent heart transplantation.

Conclusions

The ChinaCORE ACM (China Multi-Center Cohort Study on Risk Evaluation of Arrhythmogenic Cardiomyopathy) registry is a national, longitudinal, observational cohort study. This study contributes to expanding the understanding of the disease spectrum of Chinese ACM patients and improving prognostic predictions.

查看原文本刊更多论文

中国致心律失常性心肌病风险评价多中心队列研究（ChinaCORE ACM）注册。

背景：中国心律失常性心肌病（ACM）患者具有独特的遗传和临床特征。目前缺乏针对中国ACM患者的预后模型。目的：本研究旨在建立一个大型的全国性ACM患者队列，统一收集高质量的数据，用于未来风险预测。方法：本研究包括明确或边缘性ACM诊断的患者及其基因型阳性亲属。基线时，综合数据收集包括病史、心电图、影像学数据、基因检测和实验室评估。结果数据包括心力衰竭事件和恶性室性心律失常（MVA）。结果：截至2024年9月，注册中心已招募了622名参与者，包括552名先证者（88.7%）和70名携带acm相关变异的家庭成员（11.3%）。初步队列包括577例（92.8%）患者，其中495例确诊为明确的ARVC。出现症状的中位年龄为33.0岁（IQR: 22.0-45.0），其中41.6%出现心律失常相关症状。异常心电图表现包括导联V1-V3 t波反转（72.7%）和epsilon波（24.8%）。影像学评价显示左室扩张44.6%，左室扩张29.8%，平均LVEF为53.0±14.5%。结果方面，255例（40.1%）患者发生恶性室性心律失常（MVA）， 21.9%患者发生终末期心力衰竭（ESHF），其中35例患者死于心力衰竭，101例患者接受了心脏移植。结论：中国ACM风险评价多中心队列研究（ChinaCORE ACM）是一项全国性、纵向、观察性队列研究。本研究有助于扩大对中国ACM患者疾病谱系的认识，提高预后预测。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

JACC. Asia Cardiology and Cardiovascular Medicine

CiteScore

4.00

自引率

0.00%

发文量