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

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.