Assessment of Subtle Myocardial Dysfunction in Children With Wilson's Disease: A Case-Control Study
Trial Snapshot
- Phase
- Not Applicable
- Status
- Active, not recruiting
- Sponsor
- Enrollment
- 72
- Locations
- 2
- Primary Endpoint
- Left Ventricular Peak Longitudinal Strain (LV-PLS)
Study Overview
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.
Study Design
- Study Type
- Observational
- Observational Model
- Case-control
- Time Perspective
- Cross-sectional
Eligibility Criteria
- Ages
- 4 Years to 18 Years (Child, Adult)
- Sex
- All
- Accepts Healthy Volunteers
- Yes
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.
Arms & Interventions
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).
Intervention: Echocardiography (Device)
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).
Intervention: Electrocardiography (Device)
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).
Intervention: N-terminal pro b- type natriuretic peptide (Diagnostic Test)
Group 2 (Controls)
Age- and sex-matched control children without chronic liver or cardiac illness recruited from the outpatient clinic.
Intervention: Echocardiography (Device)
Outcomes
Primary Outcomes
Left Ventricular Peak Longitudinal Strain (LV-PLS)
Time Frame: 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 Outcomes
- Serum Pro-Brain Natriuretic Peptide (Pro-BNP) Level(Baseline (Day 1 , at single cross-sectional evaluation).)
- Tissue Doppler LV Filling Pressure (E/e' Ratio)(Baseline (Day 1 , at single cross-sectional evaluation).)
- Serum Ceruloplasmin Level Correlation(Baseline (Day 1,at time of cardiac evaluation or within 6 months preceding cardiac evaluation).)
- Frequency of Electrocardiographic (ECG) Abnormalities(Baseline (Day 1 , at single cross-sectional evaluation).)
Investigators
Hebatullah Fawzy
(Principal Investigator / Postgraduate Master's Student / ASU / Pediatric Resident /NHTMRI)
Ain Shams University
Study Sites (2)
Identifiers
- NCT ID
- NCT07765472
- Other Study IDs
- Wilson's disease and Heart
Dates
- First Submitted
- (last month)
- First Posted
- (last month)
- Primary Completion
- (in 29 days)
- Study Completion
- (in 2 months)
- Last Verified
- (2 months ago)
- Last updated
- (last month)
Regulatory & Sharing
- FDA Regulated Drug
- No
- FDA Regulated Device
- No
- IPD Sharing Plan
- UNDECIDED
- Has Results
- No