Chromosomal Abnormalities in Patients With Congenital Heart Disease at Assiut University Children's Hospital

NCT ID: NCT07204509

Last Updated: 2025-10-02

Basic Information

• Recruitment Status: NOT_YET_RECRUITING
• Total Enrollment: 138 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2025-10-01
• Study Completion Date: 2026-12-01

Brief Summary

Congenital heart disease (CHD) is one of the most common birth defects and an important cause of infant morbidity and mortality. Many children with CHD also have underlying genetic abnormalities, particularly chromosomal abnormalities, which may affect their prognosis, management, and counseling. This study aims to determine the incidence and pattern of chromosomal abnormalities among children with CHD attending Assiut University Children's Hospital and Elmabara Insurance Hospital.

Children with a confirmed diagnosis of CHD will undergo a detailed clinical assessment, including dysmorphic evaluation, followed by chromosomal analysis (karyotyping). The study will help identify the frequency and type of chromosomal abnormalities associated with CHD and their correlation with specific cardiac defects and phenotypic features.

Understanding these genetic associations may improve diagnosis, early intervention, and family counseling, and provide useful information for risk stratification and prevention strategies in the Egyptian population.

Detailed Description

Congenital heart disease (CHD) affects approximately 8-10 per 1,000 live births worldwide. Genetic factors, including chromosomal abnormalities such as trisomies and microdeletions, are strongly associated with the occurrence of CHD. Identifying such abnormalities is important for patient management, surgical planning, long-term prognosis, and genetic counseling.

This observational cross-sectional study will be conducted at Assiut University Children's Hospital (Pediatric Genetics Unit and Pediatric Cardiology Clinic) and Elmabara Insurance Hospital. A total of 138 children with confirmed structural CHD will be enrolled. Each patient will undergo:

Clinical evaluation including demographic data, detailed medical history, and physical examination.

Assessment of dysmorphic features and other congenital anomalies.

Cytogenetic evaluation using standard karyotyping to detect chromosomal abnormalities.

The primary outcome is to estimate the incidence of chromosomal abnormalities in children with CHD. Secondary outcomes include the correlation of specific chromosomal abnormalities with CHD subtypes and phenotypic features.

This study will contribute valuable data regarding the genetic background of CHD in Upper Egypt. The findings are expected to enhance the understanding of genotype-phenotype correlations, improve early diagnosis, and guide family counseling and preventive strategies.

Conditions

Congenital Heart Disease (CHD); Chromosomal Abnormalities

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: CROSS_SECTIONAL

Study Groups

Children with Congenital Heart Disease

This cohort includes pediatric patients with a confirmed diagnosis of congenital heart disease (CHD) attending Assiut University Children's Hospital and Elmabara Insurance Hospital. All participants underwent clinical evaluation, dysmorphic feature assessment, and cytogenetic testing (karyotyping) to detect chromosomal abnormalities. No therapeutic interventions were applied as part of this study; data were collected for observational and genetic analysis purposes only.

Conventional Karyotyping

Intervention Type: DIAGNOSTIC_TEST

Conventional chromosomal analysis was performed using karyotyping of peripheral blood lymphocytes. Standard cytogenetic techniques were applied to identify chromosomal abnormalities in pediatric patients with congenital heart disease. This diagnostic test was used solely for observational and genetic correlation purposes.

Interventions

Conventional Karyotyping

Conventional chromosomal analysis was performed using karyotyping of peripheral blood lymphocytes. Standard cytogenetic techniques were applied to identify chromosomal abnormalities in pediatric patients with congenital heart disease. This diagnostic test was used solely for observational and genetic correlation purposes.

Intervention Type: DIAGNOSTIC_TEST

Eligibility Criteria

Inclusion Criteria

• Children with a confirmed diagnosis of congenital heart disease (by echocardiography and/or cardiology evaluation).
• Age between 1 month and 18 years.
• Patients attending Assiut University Children's Hospital or Elmabara Insurance Hospital during the study period.
• Informed consent obtained from parents or legal guardians.

Exclusion Criteria

• Patients with acquired (non-congenital) heart disease.
• Critically ill patients in unstable condition not suitable for blood sampling.
• Incomplete clinical data or refusal of parents/guardians to participate.

• Minimum Eligible Age: 1 Month
• Maximum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Assiut University

OTHER

Sponsor Role: lead

Responsible Party

Alyaa Ramadan Ibrahim

Resident, pediatrics Department

Responsibility Role: PRINCIPAL_INVESTIGATOR

Central Contacts

Alyaa Ramadan Ibrahim, resident

Role: CONTACT

ramadanalyaa58@gmail.com

01004231328

References

S. Zaidi and M. Brueckner, "CHD Epidemiology: Evidence for Genetics Underlying CHD Congenital Heart Disease Compendium Genetics and Genomics of Congenital Heart Disease," 2017,

Reference Type: BACKGROUND

Wang H, Lin X, Lyu G, He S, Dong B, Yang Y. Chromosomal abnormalities in fetuses with congenital heart disease: a meta-analysis. Arch Gynecol Obstet. 2023 Sep;308(3):797-811. doi: 10.1007/s00404-023-06910-3. Epub 2023 Jan 7.

Reference Type: BACKGROUND

PMID: 36609702 (View on PubMed)

Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S, Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW; American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. Circulation. 2018 Nov 20;138(21):e653-e711. doi: 10.1161/CIR.0000000000000606.

Reference Type: BACKGROUND

PMID: 30571578 (View on PubMed)

Other Identifiers

AUN-CHD-Genetics-2025

Identifier Type: -

Identifier Source: org_study_id