Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry
Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry
复制标题
DOI：
10.1016/j.rec.2018.04.035
复制
发表时间：
2019-06-01
影响因子：
5.9
通讯作者：
Garcia-Pavia, Pablo
中科院分区：
文献类型：
--
作者：
Lopez-Sainz, Angela;Salazar-Mendiguchia, Joel;Garcia-Pavia, Pablo
简介和目的：Danon病（DD）是由LAMP 2基因突变引起的。它被认为是一种多系统疾病，其特征是肥厚性心肌病伴预激和极度肥大、智力残疾、肌病、儿童期表现和男性预后较差。DD的临床特征和预后数据很少。方法：我们分析了10家西班牙医院DD患者的临床记录。结果：纳入27例患者（平均年龄31 +/- 19岁; 78%为女性）。男性患者心外表现的患病率较高：肌病（80%）、学习障碍（83%）和视觉改变（60%），这些在女性中不常见（分别为5%、0%和27%）。尽管肥厚型心肌病是最常见的心脏病（61%），但平均最大壁厚为15 ± 7 mm，12例患者（10例女性）存在扩张型心肌病。仅11例患者（49%）出现预激。16例患者（65%）就诊时年龄大于20岁。在中位随访4年（四分位距，2-9）后，4名男性（67%）和9名女性（43%）死亡或需要移植。心脏疾病和不良事件发生较晚的妇女（37 +/- 9比23 +/- 16和36 +/- 20比20 +/- 11岁，分别）。结论：DD的临床特征与传统的描述有很大不同：DD的年龄较大，疾病不是多系统的妇女，和预激是罕见的。(C)2018西班牙心脏病学会。出版社：Elsevier Espana，S.L.U. All rights reserved.
Introduction and objectives: Danon disease (DD) is caused by mutations in the LAMP2 gene. It is considered a multisystemic disease characterized by hypertrophic cardiomyopathy with pre-excitation and extreme hypertrophy, intellectual disability, myopathy, childhood presentation, and worse prognosis in men. There are scarce data on the clinical characteristics and prognosis of DD.Methods: We analyzed the clinical records of patients with DD from 10 Spanish hospitals.Results: Twenty-seven patients were included (mean age, 31 +/- 19 years; 78% women). Male patients showed a high prevalence of extracardiac manifestations: myopathy (80%), learning disorders (83%), and visual alterations (60%), which were uncommon findings in women (5%, 0%, and 27%, respectively). Although hypertrophic cardiomyopathy was the most common form of heart disease (61%), the mean maximum wall thickness was 15 +/- 7 mm and dilated cardiomyopathy was present in 12 patients (10 women). Pre-excitation was found in only 11 patients (49%). Age at presentation was older than 20 years in 16 patients (65%). After a median follow-up of 4 years (interquartile range, 2-9), 4 men (67%) and 9 women (43%) died or required a transplant. Cardiac disease and adverse events occurred later in women (37 +/- 9 vs 23 +/- 16 and 36 +/- 20 vs 20 +/- 11 years, respectively).Conclusions: The clinical characteristics of DD differ substantially from traditional descriptions: age at presentation of DD is older, the disease is not multisystemic in women, and pre-excitation is infrequent. (C) 2018 Sociedad Espanola de Cardiologia. Published by Elsevier Espana, S.L.U. All rights reserved.