congenital Heart Defects and Non-Cardiac Malformations in Patients with a Normal Karyotype

Authors

  • Ravi Keshri Assistant Professor, Department of Anatomy, Hi Tech Medical College and Hospital, Rourkela, Odisha, India

Keywords:

Congenital heart defects, Non-cardiac malformations, Normal karyotype, Multidisciplinary management, Genetic associations

Abstract

Background: Congenital heart defects (CHDs) are the most general type of birth defect, frequently associated with non-cardiac malformations, even in patients with normal karyotypes. Understanding these associations can enhance diagnosis, management, and outcomes. The study investigated the prevalence and types of non-cardiac malformations in patients with CHDs and normal karyotypes, and to identify significant associations between these anomalies.

Methods: A retrospective observational study was conducted. The study included 300 patients with CHDs and normal karyotypes. Data were collected from medical records, including demographic information, types of CHDs, and non-cardiac malformations. Statistical analysis was performed, employing chi-square tests and logistic regression.

Results: The study found that 33.3% of patients had musculoskeletal anomalies, 28.3% had genitourinary anomalies, and 21.7% had gastrointestinal anomalies. Significant associations were observed between VSD and musculoskeletal anomalies (χ² = 12.5, p < 0.01) and ASD and genitourinary anomalies (χ² = 5.8, p = 0.02). A family history of anomalies was a significant predictor of multiple congenital anomalies (OR = 3.2, 95% CI: 1.8-5.7, p < 0.001). Surgical interventions led to favorable outcomes in 83.3% of patients.

Conclusion: This study highlights the prevalence of non-cardiac malformations in patients with CHDs and normal karyotypes and identifies significant associations between specific CHDs and non-cardiac anomalies. These findings underscore the importance of a multidisciplinary approach in managing these patients.

Recommendations: Future research is needed to explore the genetic and developmental mechanisms underlying these associations. A multidisciplinary approach should be implemented in clinical practice to improve diagnosis and management of patients with CHDs and associated non-cardiac malformations.

Published

2024-06-30

How to Cite

Keshri, R. . (2024). congenital Heart Defects and Non-Cardiac Malformations in Patients with a Normal Karyotype. Student’s Journal of Health Research Africa, 5(6). Retrieved from https://sjhresearchafrica.org/index.php/public-html/article/view/1242

Issue

Section

Section of General Medicine Research