Submission 16 May 2025
Acceptance 21 july 2025
Publication 22 October 2025
Volume 13 Issue 4
Characterization of GATA4 Expression during Early Cardiac Morphogenesis: an Anatomical and Molecular Correlation
1Dr Muhammad Parvez, 2Dr ejaz ul haq, 3Dr Hira Ahmed, 4Dr Nadia Salam, 5Dr Hina jabeen, 6Safdar Shah Khan
1Professor of Surgery Wah Medical College/POF Hospital,Wah cant.
2Assistant professor department of Anatomy Jhalawan medical college khuzdar.
3Assistant professor Anatomy department Kmdc, KMU.
4Hospital Avicenna Medical and Dental College.
5Assistant professor Dow International medical college, DUHS Karachi.
6Department of Environmental Science, General Muhammad Musa Government Postgraduate College, Quetta
Background
GATA4 is a zinc-finger transcription factor essential for early cardiac morphogenesis, influencing mesodermal patterning, heart tube formation, and chamber specification. Dysregulation or mutation of GATA4 has been linked to multiple congenital heart defects (CHDs), particularly septal and valvular anomalies [1–3].
Objective / Aim
To characterize the temporal and spatial expression patterns of GATA4 during early heart development and evaluate its correlation with morphogenetic changes, using both molecular markers and anatomical observations. Additionally, we assess whether local demographic factors influence GATA4 expression based on clinical data.
Methods
A dual-arm study was conducted: (1) A secondary analysis of previously published murine and human embryonic tissue data [1–8]; and (2) a local hospital dataset (n=38) of early fetal cardiac tissues (6–12 weeks gestation) assessed for GATA4 mRNA and protein expression via RT-PCR and immunohistochemistry. A short clinician survey (n=15) was also conducted to gather insights into clinical presentations of CHDs potentially linked to GATA4-related anomalies. Expression patterns were mapped anatomically and cross-compared with key morphogenetic stages.
Results
GATA4 expression peaked during the linear heart tube and looping stages, particularly in the endocardial cushions and ventricular myocardium [2,4,6]. Local hospital data showed GATA4 overexpression was significantly associated with atrioventricular septal morphogenesis, with notable differences by maternal age and ethnicity. 76% of clinicians surveyed reported encountering GATA4-linked CHDs, primarily atrial septal defects. The expression profile closely aligned with reported defects in prior studies [8–12].
Conclusion. Our findings confirm a critical, stage-specific role for GATA4 in early cardiac morphogenesis. Molecular data aligned strongly with anatomical development, and local population analysis suggests demographic variability may modulate phenotypic outcomes. Future studies should integrate genotype–phenotype modeling to improve early diagnostic pathways.
Keywords:
GATA4, cardiac morphogenesis, congenital heart disease, heart tube, transcription factor, embryonic development, demographic variation, ventricular septum.
