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Published on: August 8, 2022
Sarcomeric Gene Variants and Their Role with Left Ventricular Dysfunction in Background of Coronary Artery Disease
Surendra Kumar1, Vijay Kumar2, Jong-Joo Kim2
1Department of Anatomy, All India Institute of Medical Sciences, New Delhi 110029, India.
Insights
Coronary artery disease (CAD) can lead to left ventricle dysfunction (LVD). Sarcomeric gene mutations play a key role in LVD, offering new diagnostic and therapeutic avenues for heart failure patients.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Cardiovascular diseases, including coronary artery disease (CAD) and hypertension, are leading causes of death globally.
- Left ventricle dysfunction (LVD) is a common complication in later stages of CAD, significantly impacting prognosis.
- Left ventricular ejection fraction (LVEF) is a critical prognostic indicator in CAD patients.
Purpose of the Study:
- To review the role of sarcomeric genes in the development of left ventricle dysfunction (LVD) in patients with coronary artery disease (CAD).
- To highlight the advancements in genetic diagnosis for cardiac diseases and their implications.
- To explore the molecular mechanisms underlying LVD in the context of CAD.
Main Methods:
- Literature review focusing on genetic studies of cardiomyopathies and LVD.
- Analysis of research on sarcomeric gene mutations.
- Synthesis of current understanding of genetic factors in CAD-related LVD.
Main Results:
- Numerous mutations in sarcomeric genes have been identified in various cardiomyopathies.
- Genetic studies increasingly correlate LVD with conditions like dilated cardiomyopathy (DCM).
- Progress in genetic identification enhances diagnostic capabilities for cardiac conditions.
Conclusions:
- Sarcomeric genes are significantly implicated in the pathogenesis of LVD in CAD patients.
- Genetic insights provide opportunities for improved diagnosis and management of heart failure.
- Understanding these genetic links is crucial for advancing cardiovascular medicine.
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.
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