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

Официальное название

Incidence of Chromosomal Abnormalities in Patients With Congenital Heart Diseases Attending Assiut University Children's Hospital

Обзор

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.

Подробное описание

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.

Вмешательства

• Диагностический тест 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.

Первичные конечные точки

• Incidence of Chromosomal Abnormalities among Children with Congenital Heart Disease [Срок оценки: At enrollment (karyotype performed at baseline during the study period: September 2025 - September 2026)]
• Incidence of Chromosomal Abnormalities among Children with Congenital Heart disease [Срок оценки: At enrollment (karyotype performed at baseline during the study period: october 2025 - October 2026)]

Критерии участия

Критерии включения

• 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.

Критерии исключения

• 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.

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения

Когортное

Центры проведения

Список центров уточняется — проверьте первичный протокол.

Публикации

• S. Zaidi and M. Brueckner, "CHD Epidemiology: Evidence for Genetics Underlying CHD Congenital Heart Disease Compendium Genetics and Genomics of Congenital Heart Disease," 2017,
• 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
• 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 He PMID 30571578

Идентификаторы

NCT: NCT07204509 · AUN-CHD-Genetics-2025

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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