Subclinical Myocardial Dysfunction in Children With Wilson's Disease

Assessment of Subtle Myocardial Dysfunction in Children With Wilson's Disease: A Case-Control Study

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT07765472

Enrollment

Registered

2026-08-14

Start date

2025-10-01

Completion date

2026-11-30

Last updated

2026-08-14

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Children, Electrocardiographic Changes, Myocardial Dysfunction, Speckle Tracking Echocardiography, Wilson Disease, Wilson's Disease

Keywords

WD, pedia, cardiac, childern, LV dysfunction, Wilson, BNP, ceruloplasmin, Speckled tracking, Pro-BNP, STE

Brief summary

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.

Detailed description

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.

Interventions

DEVICEEchocardiography

a safe, painless test that uses sound waves to create moving pictures of your heart's structure and pumping function.

DEVICEElectrocardiography

a quick, painless test that records the electrical signals in the heart.

DIAGNOSTIC_TESTN-terminal pro b- type natriuretic peptide

a protein made by our heart, examined by peripheral blood sample.

Study design

Observational model

CASE_CONTROL

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

4 Years to 18 Years

Healthy volunteers

Yes

Inclusion criteria

1. Confirmed diagnosis of Wilson's disease based on Leipzig scoring criteria (including clinical signs, Kayser-Fleischer rings, low ceruloplasmin, or genetic analysis). 2. Age between 4 years and 18 years. 3. Written informed consent obtained from parents or legal guardians.

Exclusion criteria

1. Children with clinical evidence of overt heart failure or known congenital heart disease. 2. Children suffering from fulminant hepatitis. 3. Known co-existing primary liver diseases other than Wilson's disease. 4. Presence of syndromic disorders or major congenital anomalies.

Design outcomes

Primary

Measure	Time frame	Description
Left Ventricular Peak Longitudinal Strain (LV-PLS)	Baseline (Day 1 , at single cross-sectional evaluation).	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.

Secondary

Measure	Time frame	Description
Serum Pro-Brain Natriuretic Peptide (Pro-BNP) Level	Baseline (Day 1 , at single cross-sectional evaluation).	Quantitative measurement of serum Pro-BNP assessed via ELISA (pg/mL) as a circulating biomarker of cardiac wall stress.
Tissue Doppler LV Filling Pressure (E/e' Ratio)	Baseline (Day 1 , at single cross-sectional evaluation).	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.
Serum Ceruloplasmin Level Correlation	Baseline (Day 1,at time of cardiac evaluation or within 6 months preceding cardiac evaluation).	Serum ceruloplasmin levels (mg/dL) measured within 6 months of cardiac evaluation to correlate hepatic copper transport marker levels with cardiac function parameters.
Frequency of Electrocardiographic (ECG) Abnormalities	Baseline (Day 1 , at single cross-sectional evaluation).	Presence or absence of cardiac electrical abnormalities, including conduction delays, ST-T wave changes, and arrhythmias recorded on standard 12-lead ECG.

Countries

Egypt

Contacts

PRINCIPAL_INVESTIGATORHebatullah I Fawzy, Msc Student

Faculty of medicine AinShams U,National Hepatology and Tropical Research Institute (NHTMRI)

STUDY_CHAIREman M ElSayed (Assistant Professor of Pediatrics), AssProfessor

Faculty of Medicine AinShams U

STUDY_DIRECTORMona AH Khafagy (Lecturer of Pediatrics), Lecturer