研究背景:左心室致密化不全（left ventricular noncompaction, LVN C）是一种相对罕见的 以左心室肌小梁突出、小梁间巨大隐窝形成为表现的遗传性心肌病。自1990年 LVNC首次被命名以来,30年间人们对该疾病的诊断方面取得了一定进展,但对 其发病机制、治疗和预后仍存在诸多未知。目前对于LVNC的大宗病例研究相对 匮乏,单中心大样本量的临床分析对提高该疾病的认知,不断总结和改进对该病 的管理具有重要意义。研究目的: 本研究旨在基于北京阜外医院国家心血管疾病临床医学研究中心的LVNC单 中心大样本的回顾性分析,总结LVNC患者的临床症状、实验室检查、功能学检 查及影像学表现。重点分析LVNC患者心律失常特征、恶性心律失常的危险因素 和可能的不良预后因素。研究方法: 连续纳入自2011年5月至2021年1月北京阜外医院收治的满足Jenni超声心 动图标准和/或?etersen心脏磁共振显像标准的共计255例成人孤立性LVNC患 者。收集其临床信息并具进行规律随访,对收集的临床数据进行卡方检验、均值 检验、回归分析、受试者工作特征曲线等统计分析。研究结果: 患者的平均诊断年龄为45.4岁,男女比例为1.87:1. LVNC前三常见的临床症 状为呼吸困难（82.4%）、心悸（54.9%）、下肢水肿（25.5%）. 96.4%的患者存 在心电图检查异常,66.7%的患者出现左室收缩功能障碍,9.8%的患者出现血栓栓 塞事件。在中位4.3年的随访期间,共计43例（18.1%）患者死亡,其中41例 （17.2%）为心源性死亡,共15例（6.3%）患者接受心脏移植,患者5年生存率 为71%. LVNC患者恶性心律失常发生的独立危险因素为大内皮素（OR 3.18, 95%CI 1.44-7.04, ?=0.004）,其预测的切点值为 0.335 pmol/L （灵敏度 74.5%,特 异度61.0%）. LVNC的独立不良预后危险因素为NT-proBN?（调整后的HR 2.39, 95%CI 1.51-3.76, ?<0.001）与延迟包增强显像阳性（HR 7.56, 95% CI 1.9129.97, P=0.004).结论: 在中国成人孤立性LVNC患者中,男性患者较女性患者有较高的比例。心力 衰竭和心律失常是LVNC患者最常见的临床表现,其心律失常表现多样,以室性 心律失常为主。血清大内皮素水平是LVNC患者恶性心律失常发生的危险因素, 心室纤维化和左心功能减退是LVNC患者不良预后的主要因素。血清大内皮素水 平、NT-proBNP水平与延迟包增强显像阳性三项指标对LVNC患者的管理具有一 定的参考价值。

Research Background: Left ventricular non-compaction cardiomyopathy (LVNC) is a relatively rare hereditary cardiomyopathy characterized by prominent trabeculae and the formation of deep intratrabecular recesses. Since LVNC was first named in 1990, people have made some progress in the diagnosis of the disease in the past 30 years, but there are still many unknowns about its pathogenesis, treatment and prognosis. At present, there are relatively few studies on large cases of LVNC. Thus, a single-center clinical analysis with a large size of sample is not only of great significance to improve the cognition of the disease, but to continuously summarize and improve the management of LVNC as well.Objective: This study aims to summarize the clinical symptoms, laboratory examinations, functional examinations and imaging findings of isolated LVNC patients based on the retrospective analysis of a large sample of LVNC from the National Center of Cardiovascular Disease, Beijing Fuwai Hospital. Focusing on the analysis of the characteristics of arrhythmia in patients with isolated LVNC, the risk factors of malignant arrhythmia, and possible prognostic factors of isolated LVNC.Methods and materials: A total number of 255 adult who met Jenni’s echocardiography standards and/or Petersen’s cardiac magnetic resonance imaging standards of the diagnosis of LVNC were admitted to Beijing Fuwai Hospital from May 2011 to January 2021 were continuously included. Collect clinical information and conduct regular follow-ups, and perform statistical analysis such as chi-square test, mean test, regression analysis, receiver operating characteristic curve, etc. on the collected clinical data. Results: The average age at diagnosis of LVNC patients was 45.4 years, with a male to female ratio of 1.87:1. The first three common clinical symptoms of LVNC were dyspnea (82.4%), palpitations (54.9), and lower limb edema (25.5%). 96.4% of the patients had el ectrocardi ogram (ECG) abnormalities, 66.7% of the patients had left ventricular systolic dysfunction, and 9.8% of the patients had cardioembolism. During a median follow-up of 4.3 years, 43 patients (18.1%) died and 41 (17.2%) among them were cardiac deaths. 15 (6.3%) received heart transplants. The 5-year survival rate of LVNC was 71%. The independent risk factor for malignant arrhythmia in LVNC patients is large endothelin-1 (OR 3.18, 95% CI 1.44-7.04, P=0.004), the predicted cut-off value of it was 0.335 pmol/L (sensitivity 74.5%, specificity 61.0%). The independent poor prognosis risk factors of LVNC were NT-proBNP (adjusted HR 2.39, 95 % CI 1.51 一 3.76, P<0.001) and positive late gadolinium enhancement (HR 7.56, 95 % CI 1.91 一 29.97, P = 0.004).Conclusions: Among Chinese adult patients with isolated LVNC, males have a higher proportion than females. Heart failure and arrhythmia are the most two common clinical manifestations of isolated LVNC. Isolated LVNC patients have a variety manifestation of arrhythmias, which ventricular arrhythmia is most common. Serum big endothelin-1 level is a risk factor for malignant arrhythmia in isolated LVNC patients. Ventricular fibrosis and left ventricular disfunction predict the adverse outcome of isolated LVNC. Serum big endothelin-1 level , NT-proBNP level and positive late gadolinium enhancement have certain reference value for the management of isolated LVNC.