Congenital heart diseases (CHDs) are a group of complex diseases characterized by structural and functional malformations during development in the human heart; they represent an important problem for public health worldwide. Within these malformations, septal defects such as ventricular (VSD) and atrial septal defects (ASD) are the most common forms of CHDs. Studies have reported that CHDs are the result of genetic and environmental factors. Here, we review and summarize the role of genetics involved in cardiogenesis and congenital cardiac septal defects. Moreover, treatment regarding these congenital cardiac septal defects is also addressed.

Congenital Heart Diseases (CHDs) are a heterogeneous group of structural abnormalities affecting the heart and major arteries, which are present in at least 1% of births worldwide. Studies have linked CHD to both genetic and environmental factors. In this regard, it has been demonstrated that changes in the epigenetic pattern impact the expression of key genes involved in proper cardiac development. Therefore, it is suggested that aberrant epigenetic mechanisms may contribute to the development of these pathologies. Here, we review and summarize the main epigenetic mechanisms involved in CHD. Moreover, cardiac development and the importance of the environment and CHD are also addressed.

Peripheral arterial disease (PAD) is a complex, multifactorial atherosclerotic disease that primarily affects the arteries supplying the lower extremities, causing significant occlusion and reduced blood flow. Several studies have found an association between PAD and both genetic and environmental factors, which play a key role in the disease’s pathophysiology. Therefore, in this review, we describe the main genetic variants associated with plaque initiation, progression, and rupture in PAD. Furthermore, we identify different KEGG pathways involved in the pathological processes of these genes. We also describe gene expressions or transcriptomic studies, particularly in biopsies from patients with PAD. These findings could help identify the functional impact of genetic variants on the disease phenotype and, consequently, allow for the development of appropriate interventions that improve patient prognoses.