A Systematic Literature Review of TBX4 and SOX17 genes in Congenital Heart Disease with Pulmonary Arterial Hypertension Phenotype

Abstract

Pulmonary arterial hypertension (PAH) is a chronic and progressive vascular disorder manifested through increased pressure within the pulmonary arteries. It is widely associated with congenital heart disease (CHD) in pediatric patients, with cases related to CHD accounting for nearly 28 percent of all PAH occurrences. This condition severely affects the overall well-being and daily functioning of those diagnosed. Although the exact mechanism is not fully understood, various studies suggest the involvement of cellular and molecular factors, including genetic alterations. This study aimed to understand the association between genetic variants in SOX17 and TBX4 with the incidence of PAH-CHD. The methods used included a systematic literature review based on the PICO framework, from major academic databases namely PubMed, Google Scholar, Sinta, and Scimago. Articles were screened using the PRISMA method and managed through the Mendeley application. The results indicate that variants in the SOX17 and TBX4 genes are correlated to hereditary forms of PAH and may be associated with cardiac and thoracic vascular malformations. Early identification of these genes is crucial for more accurate diagnosis, risk prediction, and management of PAH-CHD.