Background:The X-linked Danon disease manifests by severe cardiomyopathy, myopathy, and neuropsychiatric problems. We designed this registry to generate a comprehensive picture of clinical presentations and outcome of patients with Danon disease in cardiomyopathy centers throughout Europe.Methods:Clinical and genetic data were collected in 16 cardiology centers from 8 European countries.Results:The cohort comprised 30 male and 27 female patients. The age at diagnosis was birth to 42 years in men and 2 to 65 in women. Cardiac involvement was observed in 96%. Extracardiac manifestations were prominent in men but not in women. Left ventricular (LV) hypertrophy was reported in 73% of male and 74% of female patients. LV systolic dysfunction was reported in 40% of men (who had LV ejection fraction, 34±11%) and 59% of women (LV ejection fraction, 28±13%). The risk of arrhythmia and heart failure was comparable among sexes. The age of first heart failure hospitalization was lower in men (18±6 versus 28±17 years; P<0.003). Heart failure was the leading cause of death (10 of 17; 59%), and LV systolic dysfunction predicted an adverse outcome. Eight men and 8 women (28%) underwent heart transplantation or received an LV assist device. Our cohort suggests better prognosis of female compared with male heart transplant recipients.Conclusions:Danon disease presents earlier in men than in women and runs a malignant course in both sexes, due to cardiac complications. Cardiomyopathy features, heart failure and arrhythmia, are similar among the sexes. Clinical diagnosis and management is extremely challenging in women due to phenotypic diversity and the absence of extracardiac manifestations.

中文翻译：

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达农病心脏受累的临床概况

背景：X 连锁达农病表现为严重的心肌病、肌病和神经精神问题。我们设计了这个登记处，以生成整个欧洲心肌病中心达农病患者的临床表现和结果的全面图片。方法：在来自 8 个欧洲国家的 16 个心脏病中心收集临床和遗传数据。结果：该队列包括 30 名男性和27名女性患者。诊断时男性为 42 岁，女性为 2 至 65 岁。在 96% 的患者中观察到心脏受累。心外表现在男性中较为突出，但在女性中不明显。73% 的男性和 74% 的女性患者报告了左心室 (LV) 肥厚。据报道，40% 的男性（LV 射血分数为 34±11%）和 59% 的女性（LV 射血分数为 28±13%）存在 LV 收缩功能障碍。心律失常和心力衰竭的风险在两性之间是可比的。男性首次心力衰竭住院的年龄较低（18±6 岁 vs 28±17 岁；P <0.003）。心力衰竭是死亡的主要原因（17 人中的 10 人；59%），而 LV 收缩功能障碍预示着不良结局。8 名男性和 8 名女性 (28%) 接受了心脏移植或接受了 LV 辅助装置。我们的队列表明，与男性心脏移植受者相比，女性的预后更好。结论：由于心脏并发症，达农病在男性中比女性更早出现，并且在两性中均呈恶性病程。两性之间的心肌病特征、心力衰竭和心律失常是相似的。由于表型多样性和没有心外表现，女性的临床诊断和管理极具挑战性。