Arrhythmias May Hide a Genetic Cardiomyopathy in Left Ventricular Hypertrabeculation in Children: A Single-Center Experience.

IF 2 4区 医学 Q2 PEDIATRICS Children-Basel Pub Date : 2024-10-13 DOI:10.3390/children11101233
Irma Battipaglia, Nicoletta Cantarutti, Marianna Cicenia, Rachele Adorisio, Virginia Battista, Anwar Baban, Massimo Stefano Silvetti, Fabrizio Drago
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Abstract

Background: Left ventricular hypertrabeculation (LVHT) is a myocardial disorder with different clinical manifestations, from total absence of symptoms to heart failure, arrhythmias, sudden cardiac death (SCD), and thromboembolic events. It is challenging to distinguish between the benign and pathological forms of LVHT. The aim of this study was to describe the arrhythmic manifestations of LVHT in a large group of pediatric patients and to correlate them with genetic results or other clinical markers.

Methods: We retrospectively enrolled 140 pediatric patients with diagnosis of LVHT followed at our Institution from 2013 to 2023. Data regarding family history, instrumental exams, cardiac magnetic resonance, genetic testing and outcomes were collected. Most of them had isolated LVHT (80.7%); in other patients, mixed phenotypes (hypertrophic or dilated cardiomyopathy or congenital heart disease) were present.

Results: Arrhythmias were found in 33 children (23.6%): 13 (9.3%) supraventricular tachyarrhythmias; 14 (10%) ventricular arrhythmias (five frequent PVCs (premature ventricular contractions), eight patients with ventricular tachycardia (VT), one ventricular fibrillation (VF)); two (1.4%) sinus node disfunctions; two (1.4%) complete atrio-ventricular blocks (AVB), three (2.1%) paroxysmal complete AVB, one (0.7%) severe I degree AVB. Three patients received an ICD (implantable cardioverter defibrillator). Comparison between LVHT patients with (33 pts) and without (107 pts) arrhythmias as regards genetic testing showed a statistical significance for the presence of class 4 or 5 genetic variants and arrhythmic manifestation (p = 0.037).

Conclusions: In our pediatric cohort with LVHT, good outcomes were observed, but arrhythmias were not so rare (23.6%); no SCD occurred.

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心律失常可能隐藏着儿童左心室肥厚的遗传性心肌病:单中心经验。
背景:左心室肥厚(LVHT)是一种心肌疾病,具有不同的临床表现,从完全无症状到心力衰竭、心律失常、心脏性猝死(SCD)和血栓栓塞事件。区分良性和病理性左心室高血压是一项挑战。本研究的目的是描述一大群儿科患者的左心室积水症心律失常表现,并将其与遗传结果或其他临床标记物联系起来:我们回顾性地纳入了2013年至2023年期间在我院就诊的140名确诊为左心室高血压的儿科患者。收集了有关家族史、仪器检查、心脏磁共振、基因检测和结果的数据。结果显示,大多数患者(80.7%)为孤立的左心室积水;其他患者则为混合表型(肥厚型或扩张型心肌病或先天性心脏病):33名儿童(23.6%)出现心律失常:13例(9.3%)室上性心动过速;14例(10%)室性心律失常(5例频发PVC(室性早搏),8例室性心动过速(VT),1例心室颤动(VF));2例(1.4%)窦房结失常(1.5%);2例(1.5%)室性心动过速(1.5%);1例(1.5%)室性心动过速(1.5%)。4%)窦房结功能紊乱;两例(1.4%)完全性房室传导阻滞(AVB),三例(2.1%)阵发性完全性房室传导阻滞,一例(0.7%)严重的 I 度房室传导阻滞。三名患者接受了 ICD(植入式心律转复除颤器)治疗。对有心律失常(33 例)和无心律失常(107 例)的 LVHT 患者进行基因检测后发现,4 类或 5 类基因变异与心律失常表现之间存在统计学意义(P = 0.037):在我们的 LVHT 儿童队列中,观察到了良好的预后,但心律失常并不罕见(23.6%);没有发生 SCD。
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来源期刊
Children-Basel
Children-Basel PEDIATRICS-
CiteScore
2.70
自引率
16.70%
发文量
1735
审稿时长
6 weeks
期刊介绍: Children is an international, open access journal dedicated to a streamlined, yet scientifically rigorous, dissemination of peer-reviewed science related to childhood health and disease in developed and developing countries. The publication focuses on sharing clinical, epidemiological and translational science relevant to children’s health. Moreover, the primary goals of the publication are to highlight under‑represented pediatric disciplines, to emphasize interdisciplinary research and to disseminate advances in knowledge in global child health. In addition to original research, the journal publishes expert editorials and commentaries, clinical case reports, and insightful communications reflecting the latest developments in pediatric medicine. By publishing meritorious articles as soon as the editorial review process is completed, rather than at predefined intervals, Children also permits rapid open access sharing of new information, allowing us to reach the broadest audience in the most expedient fashion.
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