Department of Cardiovascular, Respiratory, Nephrological, Aenesthesiological and Geriatric Sciences, "Sapienza" University of Rome, 00161 Rome, Italy.
Division of Cardiology, Policlinico Casilino, 00169 Rome, Italy.
Medicina (Kaunas). 2024 Jan 3;60(1):94. doi: 10.3390/medicina60010094.
Pediatric cardiomyopathies (CMs) and electrical diseases constitute a heterogeneous spectrum of disorders distinguished by structural and electrical abnormalities in the heart muscle, attributed to a genetic variant. They rank among the main causes of morbidity and mortality in the pediatric population, with an annual incidence of 1.1-1.5 per 100,000 in children under the age of 18. The most common conditions are dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). Despite great enthusiasm for research in this field, studies in this population are still limited, and the management and treatment often follow adult recommendations, which have significantly more data on treatment benefits. Although adult and pediatric cardiac diseases share similar morphological and clinical manifestations, their outcomes significantly differ. This review summarizes the latest evidence on genetics, clinical characteristics, management, and updated outcomes of primary pediatric CMs and electrical diseases, including DCM, HCM, arrhythmogenic right ventricular cardiomyopathy (ARVC), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), long QT syndrome (LQTS), and short QT syndrome (SQTS).
儿科心肌病（CMs）和电疾病构成了一组结构和电异常的心脏肌肉的疾病的异质谱，归因于遗传变异。它们是儿科人群发病率和死亡率的主要原因之一，18 岁以下儿童的年发病率为每 10 万人中有 1.1-1.5 人。最常见的病症是扩张型心肌病（DCM）和肥厚型心肌病（HCM）。尽管该领域的研究非常活跃，但该人群的研究仍然有限，治疗和管理通常遵循成人的建议，这些建议在治疗效果方面有更多的数据。尽管成人和儿科心脏病具有相似的形态和临床表现，但它们的结果却有很大的不同。这篇综述总结了儿科原发性心肌病和电疾病（包括 DCM、HCM、心律失常性右心室心肌病（ARVC）、Brugada 综合征（BrS）、儿茶酚胺多形性室性心动过速（CPVT）、长 QT 综合征（LQTS）和短 QT 综合征（SQTS））的最新遗传学、临床特征、管理和更新结局的证据。
