Role of Genetics in Cardiovascular Diseases - An Overview

Introduction

The term "genetics'' means received. Genetic variations are hereditary characteristics that parents pass on to their offspring. Every cell in a child's body gets a copy of their parents' genetic information during development. In many ways, genetics can affect the chance of developing heart disease.

Genes, including the communication between heart cells and the strength of the blood vessels, entirely control the cardiovascular system. Heart disease can be impacted by a genetic variation (mutation) in a particular gene. When a family member is found to have heart disease or a heart disorder, the other family members are advised to get a screen test for risk factors and early-stage diseases.

How Can Genetics Affect Cardiovascular Problems?

Trillions of cells make up the human organism. The nucleus of every cell contains the information that makes it distinct. Genes make up this information. Genetic cardiovascular disorders are caused mainly by a defect in one or more genes. There is a 50:50 possibility that they may inherit defective genes from their parents.

What Are the Types of Cardiovascular Diseases Affected by Genes?

• Cardiomyopathy - Familial dilated cardiomyopathy is a genetic cardiac condition when the heart's cardiac muscle weakens and thins out in at least one chamber. Enlarging the chamber's open region (dilated) results the heart being unable to pump blood as effectively as normal. The cardiac muscle thins and weakens even more due to the heart's effort to compensate by pumping more blood through the heart. This disease progresses to heart failure over time.

• Heart Arrhythmias - Heart arrhythmias is an inherited cardiac rhythm disorder in which the heartbeat gets chaotic and irregular, which increases the risk of stroke.

• Cardiac Amyloidosis - Cardiac amyloidosis is a cardiac condition when amyloid protein deposits are found in the heart.

• Cardiac Tumors - Cardiac tumors are also known as heart tumors, in which growth develops in the heart.

• Autoimmune Disorder - A disorder when the immune system mistakenly attacks the body. Examples include lupus, rheumatoid arthritis, and scleroderma.

• Familial Thoracic Aortic Aneurysm Syndrome - Genetic disorder known as familial thoracic aortic aneurysm syndrome is brought on by abnormalities in several genes, most frequently the ACTA2 or TGFBR2 genes.

• Heart Valve Disease - Some congenital heart valve diseases are inherited, which means the heart valve defect is brought on by particular genes that are passed down to a child from the parents. For example, stenosis may result from an inherited heart valve disorder called bicuspid aortic valve.

• Higher Amount of Cholesterol (Familial Hypercholesterolemia) - Higher than normal blood cholesterol levels are a hallmark of the genetic disorder known as familial hypercholesterolemia. Up to 10 percent of early-onset coronary artery disease, or heart disease before age 55, is attributed to familial hypercholesterolemia.

• Pulmonary Hypertension - When the blood arteries connecting the heart and lungs experience excessive pressure, it is known as pulmonary hypertension.

What Are the Signs and Symptoms of Genetic Cardiovascular Diseases?

The signs and symptoms of genetically associated cardiovascular diseases include:

• Chest pain.

• Chest tightness.

• Breathing difficulty.

• Neck, jaw, pharynx, upper abdominal region, or back pain.

• Weakness or coldness in legs or limbs.

• Fatigue.

• Heart palpitations.

• Lightheadedness.

• Fainting.

• Sudden cardiac death.

How Is Genetic Associated Cardiovascular Disease Diagnosed?

The diagnostic options available for genetic-associated cardiovascular diseases include the following:

• Computed tomography (CT scan) - A cardiac computed tomography (CT) scan, also known as a calcium-score screening heart scan, is a process that makes use of numerous X-ray beams at various angles to produce high-quality, three-dimensional (3D) images of the heart, blood vessels, and surrounding structures.

• Magnetic Resonance Imaging (MRI) - The heart's blood supply is also examined during cardiac MRI images. They can assist the doctor in examining conditions like coronary heart disease and reduced blood flow to the heart muscle, which may cause angina (chest discomfort).

• Echocardiogram (ECHO) - The medical staff may use an echo test to examine the heart's anatomy and evaluate its work. The examination aids the medical staff in determining the size, thickness, and motion of the heart's walls, as well as the heart's size and structure.

• Stress Test - Cardiologists use a cardiac stress test to assess the heart's ability to respond to stress in a safe, clinical setting. Exercise or intravenous pharmacological stimulation may cause a stress reaction.

• Cardiac Catheterization - Cardiac catheterization is a technique used to detect or treat certain heart conditions, such as blocked arteries or irregular heartbeats, by guiding a thin, flexible tube (catheter) through a blood vessel to the heart.

What Are the Treatment Options Available for Genetics Associated with Cardiovascular Diseases?

The treatment options available for genetics associated with cardiovascular diseases include:

• Lifestyle changes.

• Avoid drinking alcohol.

• Do not smoke.

• Consume heart-healthy food.

• Follow the doctor's advice regarding exercise.

• Discuss weight-loss alternatives with a doctor if overweight.

• Reduce stress.

• Schedule regular checkups and follow-up exams with a doctor.

Oral Medication

• Antiarrhythmic drugs will assist in regulating the heartbeat.

• Blood blockages can be treated, prevented, and reduced with anticoagulants, also known as "blood thinners."

• Anti-inflammatory drugs can help with both pain alleviation and inflammation reduction.

• Beta-blockers will aid in lowering blood pressure.

• Calcium channel blockers will ease tension, widen blood vessels, slow heartbeat, and decrease blood pressure.

• Diuretics, also known as "water pills," will assist in lowering the body's fluid retention.

• Protein regulators and drugs that alter genes.

Surgery

• Coronary Artery Bypass Grafting (CABG) - The surgical treatment known as coronary artery bypass surgery, often referred to as coronary artery bypass graft, addresses plaque buildup in the heart's arteries. The CABG procedure joins blood vessels above and below the blocked artery using healthy blood vessels from another body section. Bypassing the constricted or obstructed coronary arteries establishes a new pathway for blood flow. The blood vessels are typically leg veins or arteries from the arm or chest.

• Heart Transplantation - A heart transplant is a surgical procedure where the patient's unhealthy heart is removed and replaced with a healthy heart from an organ donor.

• Pacemaker Implantation - An implantable pacemaker is a small electronic device often positioned in the chest, just below the collarbone, to assist in controlling slow electrical issues with the heart.

• Septal Myectomy - In an open-heart treatment called a septal myectomy, the surgeon cuts away a portion of the septum between the ventricles that has grown thick and long

• Ventricular assist device (VAD).

Conclusion

Heart diseases like congenital heart disease and myocardial infarction are included in the category of cardiovascular diseases, most of which are inherited. The genes and particular DNA sequence variants accountable for this heritability have been the subject of intense research. The risk of heart disease can rise even when inheritance is combined with harmful lifestyle decisions like smoking and eating poorly. The risk of heart disease can increase even further.