Subclinical Myocardial Dysfunction in Children With Wilson's Disease
2026年8月12日 更新者：Hebatullah Fawzy
Assessment of Subtle Myocardial Dysfunction in Children With Wilson's Disease: A Case-Control Study
Wilson's disease (WD) is one of the most common metabolic liver diseases in older children. The most frequent clinical presentation is liver disease. However, Wilson's disease (WD) is a multisystem disorder. It is concluded that four modes of cardiac manifestations in Wilson's disease (WD) include arrhythmias, cardiomyopathy, cardiac death, and autonomic dysfunction. Such possible cardiac involvement should be added to the clinical picture of Wilson's disease (WD) involving the hepatic and central nervous system(CNS).
The data on cardiac manifestations in children is very limited and only few adult studies are available.
In this study, the investigators aim to unveil subclinical cardiac dysfunction in children with Wilson's disease with apparently normal cardiac functions by conventional assessment.
研究概览
地位
主动，不招人
详细说明
Wilson's disease (WD) is an autosomal recessive metabolic liver disorder caused by toxic copper accumulation.
While hepatic and neurological manifestations are well recognized, copper can also accumulate in cardiac tissue, potentially leading to subtle myocardial changes, arrhythmias, and heart failure.
Traditional two-dimensional (2D) echocardiography often appears normal in early stages.
This study aims to evaluate early left ventricular (LV) systolic and diastolic dysfunction in pediatric patients with Wilson's disease using speckle tracking echocardiography (STE) and tissue Doppler imaging, and to correlate these findings with serum levels of Pro-Brain Natriuretic Peptide (Pro-BNP) and ceruloplasmin.
研究类型
观察性的
注册 (估计的)
72
联系人和位置
本节提供了进行研究的人员的详细联系信息，以及有关进行该研究的地点的信息。
学习地点
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Cairo、埃及
- Faculty of medicine AinShams U
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Giza、埃及
- National Hepatology and Tropical Research Institute (NHTMRI)
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参与标准
研究人员寻找符合特定描述的人，称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。
资格标准
适合学习的年龄
- 孩子
- 成人
接受健康志愿者
是的
取样方法
非概率样本
研究人群
They will be divided in to 2 groups: - Group 1: Patients confirmed Wilson's disease. - Group 2: Controls.
- Patients group: Patient diagnosed as WD patients, following up in Pediatric Hepatology Clinic in NHTMRI.
According to Criteria of diagnosis based on Leipzig scoring system (11,12): Typical clinical symptoms and signs, as: Kayser-Fleischer rings, neurological symptoms, serum ceruloplasmin, Coombs-negative hemolytic anemia. Other tests: Liver biopsy, 24hr urinary Cu, gene analysis.
描述
Inclusion Criteria
- Confirmed diagnosis of Wilson's disease based on Leipzig scoring criteria (including clinical signs, Kayser-Fleischer rings, low ceruloplasmin, or genetic analysis).
- Age between 4 years and 18 years.
- Written informed consent obtained from parents or legal guardians.
Exclusion Criteria
- Children with clinical evidence of overt heart failure or known congenital heart disease.
- Children suffering from fulminant hepatitis.
- Known co-existing primary liver diseases other than Wilson's disease.
- Presence of syndromic disorders or major congenital anomalies.
学习计划
本节提供研究计划的详细信息，包括研究的设计方式和研究的衡量标准。
研究是如何设计的？
设计细节
队列和干预
团体/队列 |
干预/治疗 |
|---|---|
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Group 1 (Cases)
Children aged 4-18 years with confirmed Wilson's disease recruited from the Pediatric Hepatology Clinic at the National Hepatology and Tropical Medicine Research Institute (NHTMRI).
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a safe, painless test that uses sound waves to create moving pictures of your heart's structure and pumping function.
其他名称：
a quick, painless test that records the electrical signals in the heart.
其他名称：
a protein made by our heart, examined by peripheral blood sample.
其他名称：
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Group 2 (Controls)
Age- and sex-matched control children without chronic liver or cardiac illness recruited from the outpatient clinic.
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a safe, painless test that uses sound waves to create moving pictures of your heart's structure and pumping function.
其他名称：
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研究衡量的是什么？
主要结果指标
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
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Left Ventricular Peak Longitudinal Strain (LV-PLS)
大体时间：Baseline (Day 1 , at single cross-sectional evaluation).
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Left Ventricular Peak Longitudinal Strain (LV-PLS) assessed by Speckle Tracking Echocardiography (STE) to evaluate subclinical LV systolic dysfunction.
Expressed as a negative percentage (%), where a less negative percentage indicates impaired function.
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Baseline (Day 1 , at single cross-sectional evaluation).
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次要结果测量
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
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Serum Pro-Brain Natriuretic Peptide (Pro-BNP) Level
大体时间：Baseline (Day 1 , at single cross-sectional evaluation).
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Quantitative measurement of serum Pro-BNP assessed via ELISA (pg/mL) as a circulating biomarker of cardiac wall stress.
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Baseline (Day 1 , at single cross-sectional evaluation).
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Tissue Doppler LV Filling Pressure (E/e' Ratio)
大体时间：Baseline (Day 1 , at single cross-sectional evaluation).
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Ratio of early mitral inflow velocity (E) measured by conventional Doppler to early diastolic mitral annular velocity (e') measured by tissue Doppler imaging to evaluate LV diastolic function.
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Baseline (Day 1 , at single cross-sectional evaluation).
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Serum Ceruloplasmin Level Correlation
大体时间：Baseline (Day 1,at time of cardiac evaluation or within 6 months preceding cardiac evaluation).
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Serum ceruloplasmin levels (mg/dL) measured within 6 months of cardiac evaluation to correlate hepatic copper transport marker levels with cardiac function parameters.
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Baseline (Day 1,at time of cardiac evaluation or within 6 months preceding cardiac evaluation).
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Frequency of Electrocardiographic (ECG) Abnormalities
大体时间：Baseline (Day 1 , at single cross-sectional evaluation).
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Presence or absence of cardiac electrical abnormalities, including conduction delays, ST-T wave changes, and arrhythmias recorded on standard 12-lead ECG.
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Baseline (Day 1 , at single cross-sectional evaluation).
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合作者和调查者
在这里您可以找到参与这项研究的人员和组织。
调查人员
- 首席研究员：Hebatullah I Fawzy, Msc Student、Faculty of medicine AinShams U,National Hepatology and Tropical Research Institute (NHTMRI)
- 学习椅：Eman M ElSayed (Assistant Professor of Pediatrics), AssProfessor、Faculty of medicine AinShams U
- 研究主任：Mona AH Khafagy (Lecturer of Pediatrics), Lecturer、Faculty of medicine AinShams U
- 研究主任：Sara M Osman (Teaching Fellow of Pediatrics), PedFellow、National Hepatology and Tropical Research Institute (NHTMRI)
出版物和有用的链接
负责输入研究信息的人员自愿提供这些出版物。这些可能与研究有关。
一般刊物
- Wiernicka A, Dadalski M, Janczyk W, Kaminska D, Naorniakowska M, Husing-Kabar A, Schmidt H, Socha P. Early Onset of Wilson Disease: Diagnostic Challenges. J Pediatr Gastroenterol Nutr. 2017 Nov;65(5):555-560. doi: 10.1097/MPG.0000000000001700.
- European Association for the Study of the Liver. EASL-ERN Clinical Practice Guidelines on Wilson's disease. J Hepatol. 2025 Feb 22:S0168-8278(24)02706-5. doi: 10.1016/j.jhep.2024.11.007. Online ahead of print.
- European Association for Study of Liver. EASL Clinical Practice Guidelines: Wilson's disease. J Hepatol. 2012 Mar;56(3):671-85. doi: 10.1016/j.jhep.2011.11.007.
- https://ebm.one/en/chapter-table/scoring-system-developed-8th-international-meeting-wilson-disease-leipzig-2001
- https://doi.org/10.4236/wjcd.2019.93018
- Romuk E, Jachec W, Zbrojkiewicz E, Mroczek A, Niedziela J, Gasior M, Rozentryt P, Wojciechowska C. Ceruloplasmin, NT-proBNP, and Clinical Data as Risk Factors of Death or Heart Transplantation in a 1-Year Follow-Up of Heart Failure Patients. J Clin Med. 2020 Jan 3;9(1):137. doi: 10.3390/jcm9010137.
- Salatzki J, Mohr I, Heins J, Cerci MH, Ochs A, Paul O, Riffel J, Andre F, Hirschberg K, Muller-Hennessen M, Giannitsis E, Friedrich MG, Merle U, Weiss KH, Katus HA, Ochs M. The impact of Wilson disease on myocardial tissue and function: a cardiovascular magnetic resonance study. J Cardiovasc Magn Reson. 2021 Jun 24;23(1):84. doi: 10.1186/s12968-021-00760-1.
- Chevalier K, Benyounes N, Obadia MA, Van Der Vynckt C, Morvan E, Tibi T, Poujois A. Cardiac involvement in Wilson disease: Review of the literature and description of three cases of sudden death. J Inherit Metab Dis. 2021 Sep;44(5):1099-1112. doi: 10.1002/jimd.12418. Epub 2021 Aug 2.
- Quick S, Reuner U, Weidauer M, Hempel C, Heidrich FM, Mues C, Sveric KM, Ibrahim K, Reichmann H, Linke A, Speiser U. Cardiac and autonomic function in patients with Wilson's disease. Orphanet J Rare Dis. 2019 Jan 28;14(1):22. doi: 10.1186/s13023-019-1007-7.
- https://doi.org/10.21608/cupsj.2021.71046.1018
- Sanchez-Monteagudo A, Ripolles E, Berenguer M, Espinos C. Wilson's Disease: Facing the Challenge of Diagnosing a Rare Disease. Biomedicines. 2021 Aug 28;9(9):1100. doi: 10.3390/biomedicines9091100.
- Ovchinnikova EV, Garbuz MM, Ovchinnikova AA, Kumeiko VV. Epidemiology of Wilson's Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions. Int J Mol Sci. 2024 Feb 18;25(4):2402. doi: 10.3390/ijms25042402.
- https://doi.org/10.1038/s41598-024-59377-w
- Dang J, Chevalier K, Letavernier E, Tissandier C, Mouawad S, Debray D, Obadia M, Poujois A. Kidney involvement in Wilson's disease: a review of the literature. Clin Kidney J. 2024 Mar 9;17(4):sfae058. doi: 10.1093/ckj/sfae058. eCollection 2024 Apr.
研究记录日期
这些日期跟踪向 ClinicalTrials.gov 提交研究记录和摘要结果的进度。研究记录和报告的结果由国家医学图书馆 (NLM) 审查，以确保它们在发布到公共网站之前符合特定的质量控制标准。
研究主要日期
学习开始 (实际的)
2025年10月1日
初级完成 (估计的)
2026年10月30日
研究完成 (估计的)
2026年11月30日
研究注册日期
首次提交
2026年8月3日
首先提交符合 QC 标准的
2026年8月12日
首次发布 (实际的)
2026年8月14日
研究记录更新
最后更新发布 (实际的)
2026年8月14日
上次提交的符合 QC 标准的更新
2026年8月12日
最后验证
2026年8月1日
更多信息
与本研究相关的术语
其他相关的 MeSH 术语
其他研究编号
- Wilson's disease and Heart
计划个人参与者数据 (IPD)
计划共享个人参与者数据 (IPD)？
未定
药物和器械信息、研究文件
研究美国 FDA 监管的药品
不
研究美国 FDA 监管的设备产品
不
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