Investigation on Genetic Mutations Leading to Monogenic and Polygenic Heart Diseases Using Publicly Available Disease Databases

Abstract

An investigation was completed use publicly available NCBI and DISGNET databases to determine the genetic association to predominant heart diseases. Preliminary research was conducted to detect the two most common types of heart disease, hypertrophic cardiomyopathy (HCM) and coronary artery disease (CAD), and the respective monogenic and polygenic genes responsible for causing these diseases. The genetic etiology of the mutating genes was investigated with hopes that the phenotypic results could be established on publicly available databases. This would allow countless changes in medicine regarding heart disease such as accurate genetic counseling, treatment guidance, risk assessment, and preventative measures, such as living heart friendly lifestyle, can be taken to positively influence the disease course. This course of action would lead to early diagnosis in affected individuals and possibly preventing sudden cardiac death.