• Hira Mubeen, Muhammad Farooq, Asif Ur Rehman, Muhammad Zubair, and Asma Haque.
• Department of Bioinformatics and Biotechnology, Government College University Faisalabad, Faisalabad, Pakistan.
• Ir J Med Sci. 2023 Apr 1; 192 (2): 595604595-604.

BackgroundCongenital heart disease (CHD) is one of the most important birth defects caused by more than one mutated gene. Mutations in the genes could cause different types of congenital heart defects including atrial septal defect (ASD), tetralogy of Fallot (TOF), and ventricular septal defect (VSD).ObjectivesCardiac transcription factors are key players for heart development and are actively involved in controlling stress regulation of the heart. Transcription factors are sequence-specific DNA binding proteins that control the process of transcription and work in a synergistic manner. We aim to characterize core cardiac transcription factors including NKX2-5, TBX, SRF, GATA4, and MEF2, which encode homeobox and MADS domain and play a crucial role in heart development.MethodsIn this study, we have explored the important transcription factors involved in cardiac development and genes controlling the expression and regulation process by using the bioinformatics approach.ResultsWe have predicted the orthologs and homologs based on their evolutionary history, conserved protein domains, functional sites, and 3D structures for better understanding and presentation of factors responsible for causing CHD. Results showed the importance of these transcription factors for normal heart functioning and development.ConclusionUnderstanding the molecular pathways and genetic basis of CHD will help to open a new door for the treatment of patients with cardiac defects.© 2022. The Author(s), under exclusive licence to Royal Academy of Medicine in Ireland.

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