Clinical and Genetic Profile of Chinese Children With Danon Disease: A Single-Center Retrospective Cohort Study.

IF 5.8 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Canadian Journal of Cardiology Pub Date : 2024-10-11 DOI:10.1016/j.cjca.2024.10.005
Qingni Zhang, Wenxiu Chan, Yiwei Chen, Jinjin Wu, Hao Chen, Tingting Yu, Ruen Yao, Lijun Chen, Bing Zhang, Hao Zhang, Zhen Zhang, Lijun Fu
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Abstract

Background: Danon disease (DD) is a rare X-linked dominant lysosomal storage disorder. Studies on DD paediatric patients are limited owing to the small number of cases and challenges in early detection.

Methods: We retrospectively analysed clinical and genetic data of 29 paediatric patients who visited our hospital for treatment of or genetic counselling for DD from July 2014 to December 2023.

Results: The mean age at diagnosis was 7.2 ± 5.9 years for boys (n = 21) and 9.4 ± 5.0 years for girls (n = 8). Asymptomatic elevated liver transaminase or creatine kinase (CK) levels were initial manifestations detected in 10 male patients (48%) and absent in female patients. Hypertrophic cardiomyopathy (HCM) was observed in 20 male patients (95%) and 7 female patients (88%), whereas dilated cardiomyopathy (DCM) was not detected. Ventricular preexcitation (VP) was observed initially in 10 patients (36%) and in 15 (54%) at latest evaluation. Patients with VP had higher left ventricular posterior wall thickness in end-diastole z-scores than those without VP (5.6 ± 2.2 vs 3.5 ± 2.1; P = 0.029). During a median 2.7 years of follow-up, 2 male patients received heart transplants. One boy and 1 girl died of heart failure and sudden cardiac arrest, respectively. Twenty-three pathogenic LAMP2 variants were identified, including 7 novel variants.

Conclusions: A retrospective review of 29 DD cases suggests an underrecognised asymptomatic period in male DD patients, characterised by elevations in serum CK and transaminases. HCM appears to be the only cardiac manifestation in paediatric female patients, unlike a high incidence of DCM in adult female patients. The incidence of VP may increase with disease progression.

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中国达农病患儿的临床和遗传特征:单中心回顾性队列研究。
背景介绍达农病(DD)是一种罕见的X连锁显性溶酶体储积症。由于病例较少且早期发现困难,有关达农病儿科患者的研究十分有限:我们回顾性分析了2014年7月至2023年12月期间到我院接受治疗或遗传咨询的29例DD儿科患者的临床和遗传学数据:诊断时的平均年龄为:男性(21人)7.2±5.9岁,女性(8人)9.4±5.0岁。无症状的肝脏转氨酶和/或肌酸激酶(CK)水平升高是10名男性患者(48%)的最初表现,女性患者则没有。20名男性患者(95%)和7名女性患者(88%)出现肥厚型心肌病(HCM),而未发现扩张型心肌病(DCM)。10名患者(36%)最初出现室性早搏(VP),最近一次评估时发现有15名患者(54%)出现室性早搏。与无 VP 的患者相比,有 VP 的患者舒张期左室后壁厚度 z 值更高(5.6±2.2 vs. 3.5±2.1,p=0.029)。在中位 2.7 年的随访期间,两名男性接受了心脏移植。一名男孩和一名女孩分别死于心力衰竭和心脏骤停。研究发现了 23 个 LAMP2 致病变异,包括 7 个新型变异:对 29 例 DD 病例的回顾性研究表明,男性 DD 患者有一个未被充分认识的无症状期,其特点是血清 CK 和转氨酶升高。与成年女性患者中 DCM 的高发病率不同,HCM 似乎是儿科女性患者的唯一心脏表现。随着病情的发展,VP 的发病率可能会增加。
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来源期刊
Canadian Journal of Cardiology
Canadian Journal of Cardiology 医学-心血管系统
CiteScore
9.20
自引率
8.10%
发文量
546
审稿时长
32 days
期刊介绍: The Canadian Journal of Cardiology (CJC) is the official journal of the Canadian Cardiovascular Society (CCS). The CJC is a vehicle for the international dissemination of new knowledge in cardiology and cardiovascular science, particularly serving as the major venue for Canadian cardiovascular medicine.
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