Subclinical Myocardial Dysfunction in Children With Wilson's Disease

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

Registry ID
NCT07765472
Source registry
NCT
Status
ACTIVE_NOT_RECRUITING
Study type
OBSERVATIONAL
Sponsor
Hebatullah Fawzy
Enrollment
72
Start date
2025-10-01
Completion date
2026-11-30
Last update
2026-08-14

Conditions

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

Inclusion criteria

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

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.

Primary outcomes

[{"measure":"Left Ventricular Peak Longitudinal Strain (LV-PLS)","timeFrame":"Baseline (Day 1 , at single cross-sectional evaluation)."}]

Locations

Publications

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