Kofeynikova Olga, Alekseeva Daria, Vershinina Tatiana, Fetisova Svetlana, Peregudina Olga, Kovalchuk Tatiana, Yakovleva Elena, Sokolnikova Polina, Klyushina Alexandra, Chueva Kseniia, Kostareva Anna, Pervunina Tatiana, Vasichkina Elena
World-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, Russia.
Department of Pediatric Cardiology, Almazov National Medical Research Centre, Saint Petersburg, Russia.
Front Cardiovasc Med. 2023 Sep 15;10:1216976. doi: 10.3389/fcvm.2023.1216976. eCollection 2023.
The present study aimed to describe the phenotypic features and genetic spectrum of arrhythmogenic cardiomyopathy (ACM) presented in childhood and test the validity of different diagnostic approaches using Task Force Criteria 2010 (TFC) and recently proposed Padua criteria.
Thirteen patients (mean age at diagnosis 13.6 ± 3.7 years) were enrolled using "definite" or "borderline" diagnostic criteria of ACM according to the TFC 2010 and the Padua criteria in patients <18 years old. Clinical data, including family history, 12-lead electrocardiogram (ECG), signal-averaged ECG, 24-h Holter monitoring, imaging techniques, genetic testing, and other relevant information, were collected.
All patients were classified into three variants: ACM of right ventricle (ACM-RV; = 6, 46.1%), biventricular ACM (ACM-BV; = 3, 23.1%), and ACM of left ventricle (ACM-LV; = 4, 30.8%). The most common symptoms at presentations were syncope ( = 6; 46.1%) and palpitations ( = 5; 38.5%). All patients had more than 500 premature ventricular contractions per day. Ventricular tachycardia was reported in 10 patients (76.9%), and right ventricular dilatation was registered in 8 patients (61.5%). An implantable cardiac defibrillator was implanted in 61.5% of cases, and three patients with biventricular involvement underwent heart transplantation. Desmosomal mutations were identified in 8 children (53.8%), including four patients with variants, two with variants, one with variant, and one with . Four patients carried compound heterozygous variants in desmosomal genes associated with left ventricular involvement.
Arrhythmias and structural heart disease, such as chamber dilatation, should raise suspicion of different ACM phenotypes. Diagnosis of ACM might be difficult in pediatric patients, especially for ACM-LV and ACM-BV forms. Our study confirmed that using "Padua criteria" in combination with genetic testing improves the diagnostic accuracy of ACM in children.
本研究旨在描述儿童期致心律失常性心肌病（ACM）的表型特征和基因谱，并使用2010年工作组标准（TFC）和最近提出的帕多瓦标准检验不同诊断方法的有效性。
根据2010年TFC和帕多瓦标准，纳入13例年龄小于18岁、诊断为“明确”或“临界”ACM的患者。收集临床资料，包括家族史、12导联心电图（ECG）、信号平均心电图、24小时动态心电图监测、影像学检查、基因检测及其他相关信息。
所有患者分为三种类型：右心室ACM（ACM-RV；6例，46.1%）、双心室ACM（ACM-BV；3例，23.1%）和左心室ACM（ACM-LV；4例，30.8%）。最常见的症状为晕厥（6例；46.1%）和心悸（5例；38.5%）。所有患者每日室性早搏均超过500次。10例患者（76.9%）报告有室性心动过速，8例患者（61.5%）出现右心室扩张。61.5%的病例植入了植入式心脏除颤器，3例双心室受累患者接受了心脏移植。8名儿童（53.8%）检测到桥粒蛋白突变，其中4例为某种变异型，2例为另一种变异型，1例为第三种变异型，1例为第四种变异型。4例患者在与左心室受累相关的桥粒蛋白基因中携带复合杂合变异。
心律失常和结构性心脏病，如心室扩张，应引起对不同ACM表型的怀疑。儿科患者诊断ACM可能困难，尤其是ACM-LV和ACM-BV类型。我们的研究证实，使用“帕多瓦标准”结合基因检测可提高儿童ACM的诊断准确性。
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