Evaluation of Genome in Early Familial Coronary Artery Disease: A Case Report

Background and Objectives: Coronary artery diseases (CAD) are the most common cause of death in Iran and worldwide. Myocardial infarction (MI) is a complex multifactorial and the most severe type of CAD. Early onset MI in first degree relatives could be considered as an independent risk factor for CAD. This study was performed to investigate the genetic cause of early onset familial CAD.   Case Report: The patient was a 49-year-old female, who had an acute MI at the age of 45. Evaluation of family history indicated that her father, older brother, aunts, and male cousin were also diagnosed to have MI, and had not any diagnostic criteria for familial hypercholesterolemia, diabetes, obesity, and also they did not use alcohol and tobacco. The c.6241C>T (p.Arg2081Trp) mutation was identified in ABCA1 gene in heterozygous state (CT) in proband using Whole Exome Sequencing. Mutation was confirmed by PCR and Sanger sequencing. This mutation in heterozygous state was found in all patients and not in others. This findings show that ABCA1 gene could be a possible cause of early onset familial CAD.