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210822

Structural and Functional Cardiac Changes in Children with Wilson Disease

Article

Last updated: 04 Jan 2025

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Abstract

Background: Wilson disease (WD) is an autosomal recessive disease with copper overload.  Its clinical picture depends on specific tissue/system damage by the excess copper.
Aim of the work: We aimed to study prospectively the phenotypic spectrum of structural and functional cardiac changes among children with WD.  
Methods: 16 children with confirmed WD underwent electrocardiography (ECG), conventional and tissue Doppler echocardiography. 
Results: ECG was normal in 11 patients (68.7%), inverted T was detected in 2 (12.5%), ST elevation in 2 (12.5%) while P-pulmonale and inverted T were detected in 1 (6.25%). Five patients  (31.25%) had mild and one (6.25%) had severe tricuspid regurgitation. Two girls (12.5%) with WD had underlying congenital heart defects, one had atrial septal defect (ASD) and another had double inlet left ventricle (DILV), malposed great vessels and severe pulmonary stenosis. There was a positive correlation between LV mass and duration of treatment (r=0.559, p=0.030), and a negative correlation between age of onset and LV mass index (r=0.600, p=0.018). There was no significant correlation between age of onset and duration of treatment with myocardial perfusion imaging (MPI) or tissue Doppler parameters.  
Conclusion: WD in children is associated with cardiac structural and functional changes including congenital structural heart malformations; ASD and DILV. Future research is needed to verify if ASD and DILV in WD are embryonic presentations of copper overload in WD.

DOI

10.21608/cupsj.2021.71046.1018

Keywords

atrial septal defect (ASD), conventional and tissue Doppler echocardiography, copper overload, double inlet left ventricle (DILV), electrocardiography (ECG)

Authors

First Name

Magd

Last Name

Kotb

MiddleName

-

Affiliation

Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt

Email

magdkotb@kasralainy.edu.eg

City

Cairo

Orcid

https://orcid.org/00

First Name

Fatma Al Zahraa

Last Name

Mostafa

MiddleName

-

Affiliation

Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt

Email

fatmaalzahraah@hotmail.com

City

-

Orcid

0000-0002-9624-2375

First Name

Ahmad

Last Name

Badr

MiddleName

-

Affiliation

Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt

Email

abadr2007@yahoo.com

City

Giza

Orcid

-

First Name

Aya

Last Name

Hegazy

MiddleName

-

Affiliation

El Sahel Teaching Hospital, Cairo, Egypt

Email

ayasafwat1688@gmail.com

City

Cairo

Orcid

-

First Name

Mohamed

Last Name

Eid

MiddleName

Samir

Affiliation

Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt

Email

mohamed_samir@cu.edu.eg

City

-

Orcid

0000-0003-4245-7482

First Name

Nahla

Last Name

Sabry

MiddleName

-

Affiliation

Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt

Email

nahla595@gmail.com

City

-

Orcid

0000-0003-2165-3986

First Name

Radwa

Last Name

Shamma

MiddleName

-

Affiliation

Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt

Email

radwa.shamma@hotmail.com

City

Cairo

Orcid

0000-0001-5010-0518

Volume

2

Article Issue

1

Related Issue

29646

Issue Date

2022-01-01

Receive Date

2021-04-04

Publish Date

2022-01-01

Page Start

72

Page End

81

Print ISSN

2805-279X

Online ISSN

2682-3985

Article File

CUPSJ_Volume 2_Issue 1_Pages 72-81.pdf

PDF . 1.1MB

Link

https://cupsj.journals.ekb.eg/article_210822.html

Detail API

https://cupsj.journals.ekb.eg/service?article_code=210822

Order

10

Type

Original Research

Type Code

1,229

Publication Type

Journal

Publication Title

Pediatric Sciences Journal

Publication Link

https://cupsj.journals.ekb.eg/

MainTitle

Structural and Functional Cardiac Changes in Children with Wilson Disease

Details

Type

Article

Created At

22 Jan 2023