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

NCT07204509 | Not Yet Recruiting

• 1 other identifier: AUN-CHD-Genetics-2025
• Study Type: observational
• Target: 138
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Congenital Heart Disease (CHD); Chromosomal Abnormalities

Keywords

Karyotyping; gentic disease

Outcome Measures

Primary Outcomes (2)

• Incidence of Chromosomal Abnormalities among Children with Congenital Heart Disease

  Proportion of enrolled pediatric CHD patients with any chromosomal abnormality detected by conventional karyotyping of peripheral blood lymphocytes. Chromosomal abnormalities include numerical (e.g., trisomies, monosomies) and large structural rearrangements visible on karyotype.

  At enrollment (karyotype performed at baseline during the study period: September 2025 - September 2026)

• Incidence of Chromosomal Abnormalities among Children with Congenital Heart disease

  Proportion of enrolled pediatric CHD patients with any chromosomal abnormality detected by conventional karyotyping of peripheral blood lymphocytes. Chromosomal abnormalities include numerical (e.g., trisomies, monosomies) and large structural rearrangements visible on karyotype.

  At enrollment (karyotype performed at baseline during the study period: october 2025 - October 2026)

Study Arms (1)

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.

Diagnostic Test: Conventional Karyotyping

Interventions

Conventional Karyotyping 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.

Children with Congenital Heart Disease

Eligibility Criteria

• Age: 1 Month - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

This study population consists of pediatric patients with congenital heart disease attending Assiut University Children's Hospital and Elmabara Insurance Hospital. Eligible children underwent detailed clinical evaluation, dysmorphic assessment, and cytogenetic testing (karyotyping) to determine the incidence and pattern of chromosomal abnormalities.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Assiut University: lead

Related Publications (3)

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

  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.

  PMID: 36609702 BACKGROUND

• 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.

  PMID: 30571578 BACKGROUND

MeSH Terms

Conditions

Heart Defects, Congenital; Chromosome Aberrations

Condition Hierarchy (Ancestors)

Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Alyaa Ramadan Ibrahim, resident

CONTACT

01004231328; ramadanalyaa58@gmail.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Resident, pediatrics Department

Study Record Dates

• First Submitted: September 25, 2025
• First Posted: October 2, 2025
• Study Start: October 1, 2025
• Primary Completion (Estimated): October 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: October 2, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share