目的  Danon病是一种罕见的X连锁的显性遗传病，以往的研究主要以有限的病例报道为主，对其心脏磁共振 (cardiac magnetic resonance, CMR)特征的研究更是少见。本文拟通过研究国家心血管病中心阜外医院近七年积累的Danon病病例，总结其临床表现、CMR特征及预后转归，以促进Danon病诊治水平的提高。

材料和方法  回顾性检索2014至2020年在中国医学科学院阜外医院行CMR检查的所有患者，将其中通过基因和/或病理检测被确诊为Danon病的患者纳入研究。在电子病历中收集总结他们的临床表现、实验室检查、病理及基因分析、心电图、超声心动图和CMR特征，并于2021年3月通过电话进行随访。

结果  最终共纳入8例患者，其中7例男性，1例女性，年龄为8-28岁。在8例患者中，7例表现为肥厚型心肌病表型，1例表现为扩张型心肌病表型。8例患者均有心电图及实验室指标异常。CMR特征追踪技术显示Danon病左室和左房应变明显受损。晚期延迟强化显示部分呈局灶性分布于心尖部及右室插入点，另一部分表现为左室弥漫性心内膜下和透壁性强化，而室间隔受累相对较少。心脏T₁定量成像技术显示（共3例）初始T₁（平均为1313.3ms）和细胞外体积分数（平均为39.17%）升高。

结论  心肌Danon病多以肥厚型心肌病为临床表型，少数表型为扩张型心肌病。多模态磁共振成像在Danon病的诊断、评估及预后中具有重要价值。

AIMS Danon disease is a rare X-linked dominant genetic disease. Previous studies mainly concentrated on case reports with limited patient numbers, and even fewer articles focusing on the characteristics of cardiac magnetic resonance (CMR). In order to improve the level of diagnosis and treatment of Danon disease, we investigate the clinical spectrum, CMR imaging characteristics, and outcomes of Danon disease accumulated in National Cardiovascular Disease Center, Fuwai Hospital in recent 7 years.

MATERIALS AND METHODS This retrospective study searched all patients who were referred for CMR examination at Fuwai Hospital between 2014 to 2020. Those patients with genetic and/or pathology confirmed Danon disease were enrolled in this study. The clinical presentation, laboratory examinations, pathology/genetic analysis, electrocardiography, echocardiography, and CMR characteristics were collected from the electronic medical records and follow-up by telephone before March 2021.

RESULTS 8 patients with Danon disease include 7 male patients and 1 female patient were enrolled, and their ages ranged from 8 to 28. 7 out of 8 patients suffered from hypertrophic cardiomyopathy phenotype of Danon disease, while 1 patient had dilated cardiomyopathy phenotype. Quantitative strain assessment by feature tracking technique showed decreased strain of left ventricular and left atrial in patients with Danon disease. In some cases, late gadolinium enhancement (LGE) was localized in the apex and right ventricular insertion points, while others showed that LGE was diffusely distributed in left ventricular including subendocardial and transmural patterns, but the interventricular septum is relatively preserved. Also, T₁ mapping (total 3 cases) showed an increase in native T₁ (mean 1313.3 ms) and extracellular volume fraction (ECV; mean 39.17%).

CONCLUSIONS Most of myocardial Danon disease showed hypertrophic cardiomyopathy phenotype and a few showed dilated cardiomyopathy phenotype. Comprehensive CMR played a unique role in the diagnosis, evaluation and prognosis of Danon disease.