Zhou Ziqin, Qiu Min, Zhang Ruyue, Li Ying, Tian Miao, Tu Jiazichao, Han Linjiang, Zhou Shuheng, Li Xinming, Zhuang Jian, Wen Shusheng, Chen Jimei
Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, Guangdong, China.
Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, Guangdong, China
Open Heart. 2025 May 7;12(1):e003030. doi: 10.1136/openhrt-2024-003030.
Non-compaction cardiomyopathy (NCM) is a rare inherited cardiac disorder associated with adverse cardiovascular outcomes, including heart failure, arrhythmias and sudden cardiac death. Currently, the clinical manifestations of NCM lack comprehensive characterisation across different age groups in large-scale studies. This investigation aims to systematically analyse the clinical characteristics of patients with NCM across various age demographics.
A retrospective analysis was conducted on 415 patients with NCM treated at the Guangdong Institute of Cardiovascular Disease from January 2013 to January 2023. We comprehensively collected and analysed clinical data, including presenting symptoms, arrhythmia patterns, echocardiographic parameters and cardiac magnetic resonance imaging findings.
The study cohort (n=415) was stratified into three age groups: infants (0-1 year, n=169), children/adolescents (1-18 years, n=149) and adults (>18 years, n=97). Heart failure was the predominant clinical manifestation across the entire cohort, affecting 112 patients (27%). Notably, heart failure was most prevalent in adult patients (54.6%, n=53), while cardiac murmur was the primary presenting symptom in both infant and child/adolescent groups (19.5%, n=33 and 17.4%, n=26, respectively). Across all age groups, patients with NCM with concurrent mitral regurgitation (MR) demonstrated significantly reduced left ventricular ejection fraction and fractional shortening compared with those without valvular disease (p<0.05). Additionally, left ventricular end-systolic diameter (LVESD) and end-diastolic diameter (LVEDD) were significantly increased in patients with MR (p<0.05). A significant correlation was observed between both LVESD and LVEDD measurements and MR area in patients with NCM (p<0.05).
Patients with NCM with concomitant MR consistently exhibited left ventricular dilatation and systolic dysfunction across all age groups. Significant age-related variations were observed in clinical presentations, arrhythmia patterns and the prevalence of congenital and valvular heart disease. Understanding these age-specific clinical characteristics is crucial for accurate diagnosis, optimal therapeutic management and future research directions in NCM.
非致密化型心肌病（NCM）是一种罕见的遗传性心脏疾病，与不良心血管结局相关，包括心力衰竭、心律失常和心源性猝死。目前，在大规模研究中，NCM的临床表现缺乏对不同年龄组的全面描述。本研究旨在系统分析不同年龄人群中NCM患者的临床特征。
对2013年1月至2023年1月在广东省心血管病研究所接受治疗的415例NCM患者进行回顾性分析。我们全面收集并分析了临床数据，包括出现的症状、心律失常类型、超声心动图参数和心脏磁共振成像结果。
研究队列（n = 415）被分为三个年龄组：婴儿（0 - 1岁，n = 169）、儿童/青少年（1 - 18岁，n = 149）和成人（>18岁，n = 97）。心力衰竭是整个队列中的主要临床表现，影响了112例患者（27%）。值得注意的是，心力衰竭在成年患者中最为普遍（54.6%，n = 53），而心脏杂音是婴儿和儿童/青少年组的主要首发症状（分别为19.5%，n = 33和17.4%，n = 26）。在所有年龄组中，合并二尖瓣反流（MR）的NCM患者与无瓣膜疾病的患者相比，左心室射血分数和缩短分数显著降低（p<0.05）。此外，MR患者的左心室收缩末期内径（LVESD）和舒张末期内径（LVEDD）显著增加（p<0.05）。在NCM患者中，LVESD和LVEDD测量值与MR面积之间存在显著相关性（p<0.05）。
合并MR的NCM患者在所有年龄组中均持续表现出左心室扩张和收缩功能障碍。在临床表现、心律失常类型以及先天性和瓣膜性心脏病的患病率方面观察到了显著的年龄相关差异。了解这些特定年龄的临床特征对于NCM的准确诊断、最佳治疗管理和未来研究方向至关重要。
