Sarcomeric Gene Variants and Their Role with Left Ventricular Dysfunction in Background of Coronary Artery Disease

Biomolecules. 2020 Mar 12;10(3):442. doi: 10.3390/biom10030442.

Abstract

: Cardiovascular diseases are one of the leading causes of death in developing countries, generally originating as coronary artery disease (CAD) or hypertension. In later stages, many CAD patients develop left ventricle dysfunction (LVD). Left ventricular ejection fraction (LVEF) is the most prevalent prognostic factor in CAD patients. LVD is a complex multifactorial condition in which the left ventricle of the heart becomes functionally impaired. Various genetic studies have correlated LVD with dilated cardiomyopathy (DCM). In recent years, enormous progress has been made in identifying the genetic causes of cardiac diseases, which has further led to a greater understanding of molecular mechanisms underlying each disease. This progress has increased the probability of establishing a specific genetic diagnosis, and thus providing new opportunities for practitioners, patients, and families to utilize this genetic information. A large number of mutations in sarcomeric genes have been discovered in cardiomyopathies. In this review, we will explore the role of the sarcomeric genes in LVD in CAD patients, which is a major cause of cardiac failure and results in heart failure.

Keywords: actin; dilated cardiomyopathy; left ventricle dysfunction; myosin; sarcomere; tropomyosin; troponin.

Publication types

  • Review

MeSH terms

  • Cardiomyopathy, Dilated / genetics*
  • Cardiomyopathy, Dilated / metabolism
  • Coronary Artery Disease / genetics*
  • Coronary Artery Disease / metabolism
  • Humans
  • Polymorphism, Genetic*
  • Sarcomeres / genetics*
  • Sarcomeres / metabolism
  • Ventricular Dysfunction, Left / genetics*
  • Ventricular Dysfunction, Left / metabolism
  • Ventricular Function, Left / genetics*