Systematic review of cardiac ventricular dysfunction in Wilson's disease: mechanisms, diagnostic advancements, and management strategies.

IF 1 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS

Future cardiology Pub Date : 2025-09-04 DOI:10.1080/14796678.2025.2554026

Darshan Hullon, Taif Haitham Al Saraireh, Ghasaq Al Obaidi, Harim Mirza, Vera A Fediunina, Zahra Oskouyan, Najlaa Al-Sudani, Mohamad Abdallah Tawallbeh

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引用次数: 0

Abstract

Introduction: Wilson's disease (WD) is a rare autosomal recessive disorder caused by ATP7B gene mutations, leading to systemic copper accumulation. This systematic review examines the cardiac manifestations of WD and aims to summarize key diagnostic and therapeutic findings from available studies.

Methods: We conducted a systematic review of 21 studies using databases such as PubMed and Scopus. Studies were selected based on relevance to WD and cardiac involvement. Data extraction focused on diagnostic methods, outcomes, and treatments. Risk of bias and methodological quality were assessed qualitatively.

Results: A total of 21 studies were included. Cardiac complications included arrhythmias, myocardial fibrosis, and diastolic dysfunction. Oxidative stress and mitochondrial dysfunction were identified as key pathological mechanisms. Cardiac MRI was highlighted as a valuable diagnostic tool. While chelation remains the cornerstone therapy, gene therapy and liver transplantation are considered for advanced cases.

Conclusions: This review underscores the importance of early cardiac assessment in WD patients. New diagnostic tools and emerging therapies show promise, though evidence remains limited by small sample sizes. Further longitudinal studies are needed to inform clinical guidelines.

Protocol registration: www.crd.york.ac.uk/prospero identifier is CRD420251107174.

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威尔逊氏病室性功能障碍的系统综述：机制、诊断进展和管理策略。

威尔逊氏病（WD）是一种罕见的常染色体隐性遗传病，由ATP7B基因突变引起，导致全身铜积累。本系统综述探讨了WD的心脏表现，旨在总结现有研究的关键诊断和治疗结果。方法：我们使用PubMed和Scopus等数据库对21项研究进行了系统综述。研究是根据WD和心脏受累的相关性来选择的。数据提取侧重于诊断方法、结果和治疗。对偏倚风险和方法学质量进行定性评估。结果：共纳入21项研究。心脏并发症包括心律失常、心肌纤维化和舒张功能障碍。氧化应激和线粒体功能障碍是主要的病理机制。心脏MRI是一种有价值的诊断工具。虽然螯合仍然是治疗的基础，基因治疗和肝移植被认为是晚期病例。结论：本综述强调了WD患者早期心脏评估的重要性。新的诊断工具和新兴疗法显示出希望，尽管证据仍然受到小样本量的限制。需要进一步的纵向研究来为临床指南提供信息。协议注册：www.crd.york.ac.uk/prospero标识为CRD420251107174。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Future cardiology CARDIAC & CARDIOVASCULAR SYSTEMS-

CiteScore

2.80

自引率

5.90%

发文量

期刊介绍： Research advances have contributed to improved outcomes across all specialties, but the rate of advancement in cardiology has been exceptional. Concurrently, the population of patients with cardiac conditions continues to grow and greater public awareness has increased patients" expectations of new drugs and devices. Future Cardiology (ISSN 1479-6678) reflects this new era of cardiology and highlights the new molecular approach to advancing cardiovascular therapy. Coverage will also reflect the major technological advances in bioengineering in cardiology in terms of advanced and robust devices, miniaturization, imaging, system modeling and information management issues.