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

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.

The age, NT-proBNP, and Ejection Fraction Score as a Novel Predictor of Clinical Outcomes in CAD Patients After PCI

“… 15 ‐ 17 Age and cardiac function have been demonstrated that they have a tightly relation in the poor prognosis of CAD patients. 9 , 18 So, the ABEF score was reasonable to predict long-term poor prognosis in patients after PCI in the present study.…”

“… 15 ‐ 17 Most CAD patients will eventually develop left ventricular insufficiency, and LVEF have been widely performed to predict the outcomes of CAD patients. 18 …”

“…[15][16][17] Most CAD patients will eventually develop left ventricular insufficiency, and LVEF have been widely performed to predict the outcomes of CAD patients. 18 Older age and cardiac dysfunction were accepted prognostic markers in patients with CAD. Although these parameters of older age, NT-proBNP, and LVEF have gained popular attention, there still remains a gap on relationship between the combined biomarker, age, NT-proBNP, and ejection fraction (ABEF) score, and the outcomes of patients after PCI.…”

Hydrodynamics-Based Transplacental Delivery as a Useful Noninvasive Tool for Manipulating Fetal Genome

“…Indeed, we found reduced expression of EGFP-derived fluorescence in TPGD-treated hearts, and this event was closely associated with the presence of the Cas9 gene and mutations in EGFP cDNA [ 11 ]. Based on this, we next sought to target the endogenous MHCα gene [ 24 , 25 , 26 ], whose dysfunction is known to cause HCM and DCM in humans [ 27 , 36 ]. In this case, we employed another gene delivery approach, termed HGD, which relies on the introduction of a large volume of DNA solution at once and is a powerful method for the efficient transfection of murine hepatocytes [ 29 , 30 ].…”

“…At this time, we had two questions: the first was whether it was possible to disrupt an endogenous gene by this technology, and the second was whether it was possible to perform TPGD-GEF in the absence of a gene delivery reagent, such as FuGENF6. In this study, we first aimed to disrupt an endogenous murine cardiac myosin heavy-chain α ( MHCα ) gene [ 24 , 25 , 26 ] using this technology. Mutations in the MHCα gene cause hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans [ 27 ].…”