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.
Study Type
OBSERVATIONAL
Enrollment
72
a safe, painless test that uses sound waves to create moving pictures of your heart's structure and pumping function.
a quick, painless test that records the electrical signals in the heart.
a protein made by our heart, examined by peripheral blood sample.
Faculty of medicine AinShams U
Cairo, Egypt
National Hepatology and Tropical Research Institute (NHTMRI)
Giza, Egypt
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).
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