Copy number variations: The potential association genetic cause in severe cardiovascular diseases with unknown aetiology

Abstract

AbstractCardiovascular diseases (CVDs) are the leading cause of mortality worldwide. While both genetic and environmental factors significantly contribute to the pathogenesis of CVDs, recent advancements in genetic technology have further emphasized the significance of genetic factors in CVDs. Growing evidence suggests genetic changes as a primary cause of CVDs and their susceptibility. The major genetic changes include chromosomal aneuploidy, abnormal chromosomal structure, and single gene mutations. Copy number variation (CNV) is a type of newly introduced structural change that influences the copy number of a genome region. CNVs could manifest with more severe phenotypes compared to single‐nucleotide polymorphism (SNP) as they affect a considerably larger segment of the genome. Additionally, for the same reason, CNVs tend to manifest earlier in life compared to SNP. Recent studies have demonstrated the fundamental role of CNVs in the development or susceptibility to cardiovascular disorders. However, it remains to be determined which CVDs should prompt CNV tests in clinical practice. In this review, we discussed the extent to which CNV could take part in CVDs and further hypothesized that testing for CNV might be most beneficial for selective patients with CVDs.