An observational study in Wilson's Disease, Myocardial Dysfunction and Children, sponsored by Hebatullah Fawzy. Active, not recruiting at 2 sites in Egypt. Open to participants aged 4 Years to 18 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-08-14.
Sponsored by Hebatullah Fawzy · Observational
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.
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.
They will be divided in to 2 groups: - Group 1: Patients confirmed Wilson's disease. - Group 2: Controls.
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.
Exclusion Criteria
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).
Device: Echocardiography · Device: Electrocardiography · Diagnostic Test: N-terminal pro b- type natriuretic peptide
Age- and sex-matched control children without chronic liver or cardiac illness recruited from the outpatient clinic.
Device: Echocardiography
a safe, painless test that uses sound waves to create moving pictures of your heart's structure and pumping function.
Also known as: Echo
a quick, painless test that records the electrical signals in the heart.
Also known as: ECG
a protein made by our heart, examined by peripheral blood sample.
Also known as: pro BNP
Left Ventricular Peak Longitudinal Strain (LV-PLS)
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.
Time frame: Baseline (Day 1 , at single cross-sectional evaluation).
Serum Pro-Brain Natriuretic Peptide (Pro-BNP) Level
Quantitative measurement of serum Pro-BNP assessed via ELISA (pg/mL) as a circulating biomarker of cardiac wall stress.
Time frame: Baseline (Day 1 , at single cross-sectional evaluation).
Tissue Doppler LV Filling Pressure (E/e' Ratio)
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.
Time frame: Baseline (Day 1 , at single cross-sectional evaluation).
Serum Ceruloplasmin Level Correlation
Serum ceruloplasmin levels (mg/dL) measured within 6 months of cardiac evaluation to correlate hepatic copper transport marker levels with cardiac function parameters.
Time frame: Baseline (Day 1,at time of cardiac evaluation or within 6 months preceding cardiac evaluation).
Frequency of Electrocardiographic (ECG) Abnormalities
Presence or absence of cardiac electrical abnormalities, including conduction delays, ST-T wave changes, and arrhythmias recorded on standard 12-lead ECG.
Time frame: Baseline (Day 1 , at single cross-sectional evaluation).
Documents are hosted by the registry — open the source record to download them.
Plan to share: Undecided
This study is active, not recruiting, as verified in Aug 2026. You cannot join it, but the record below documents what was studied.
Get an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Hepatolenticular Degeneration→