Genetic Disorders Linked With Cardiovascular Symptoms

What Is an Inherited Cardiac Condition?

Genetic disorders linked with cardiovascular symptoms or cardiac genetic problems are passed down through family generations. It is also referred to as "inherited cardiac conditions" or "genetic heart conditions." It can affect anyone at any age. Some of these diseases can be fatal if left untreated. In multiple ways, genetics can influence the risk of heart disease. Genes, including the communication between heart cells and the strength of the blood vessels, entirely control the cardiovascular system. A single gene mutation or genetic variant can impact the risk of heart disease. Genetic variations are transmitted from parents to children through the DNA of eggs and sperm. During development, every cell in a child's body receives a copy of the genetic information from both parents. When a person is diagnosed with heart disease, other family members should screen for risk factors and early-stage illnesses that may not yet exhibit symptoms.

What Are the Types of Inherited Cardiac Conditions?

The pattern of cardiovascular problems in the family can help the physician determine if any other family members will develop similar conditions. Cardiomyopathies and channelopathies are the most prevalent inherited heart disorders.

The following are some examples of inherited disorders:

Familial Hypercholesterolemia (FH) - An inherited genetic disorder that runs in families and is caused by one or more defective genes. If left untreated, it causes heart and circulatory disease.

Cardiomyopathy - Cardiomyopathy is a condition where the heart muscle stiffens, thickens, thins, or fills with body substances that should not be in the heart muscle. Hence, the heart's ability to pump blood is diminished, potentially leading to arrhythmias and heart failure. Types of cardiomyopathy include the following:

• Hypertrophic Cardiomyopathy (HCM) - It happens when the walls of the ventricles (usually the left ventricle) thicken due to the growth of the heart muscle cells. Because of the thickness, the heart cannot relax and fill with blood.

• Dilated Cardiomyopathy (DCM)- It is the most prevalent kind of cardiomyopathy. The heart's ability to pump blood is reduced in dilated cardiomyopathy because the left ventricle is enlarged, dilated, and weakened. As a result, the heart's muscle fails to contract and pumps blood inefficiently.

• Arrhythmogenic Right Ventricular Cardiomyopathy - A rare type of cardiomyopathy. It occurs when the muscle tissue in the right ventricle dies and is replaced with fatty or fibrous tissue. It disrupts the heart's electrical signals and causes arrhythmias.

Channelopathies - Channelopathy can cause abnormal heart rhythms and includes the following conditions:

• Long QT Syndrome - It is a disease caused by faulty ion channels. Ions are charged atoms that open up specific cell channels to carry electrical signals into and out of them. QT interval is a prolonged electrical recovery phase of the heartbeat that may cause erratic, fast beats.

• Short QT Syndrome - A reduced or shortened QT interval can lead to potentially fatal arrhythmias (abnormal heart rhythm).

• Brugada Syndrome - A genetic heart rhythm disorder leading to sudden cardiac arrest and ventricular fibrillation. It is a rare condition that interferes with the electrical signals that regulate heart rhythm. This results in an abnormally rapid heartbeat.

• Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) - It is a rare inherited heart rhythm disorder. It usually occurs when an individual is experiencing physical or mental stress, and it can result in an excessively rapid heartbeat. It manifests in young children and adults.

• Catecholaminergic Polymorphic Ventricular Tachycardia - A disease of the calcium channels in the heart muscle that causes electrical signaling issues and irregular heartbeats, particularly during exercise.

• Progressive Cardiac Conduction Defect (PCCD) - It is a rare genetic cardiac disorder that makes the heart beat very slowly and can interfere with the heart's rhythm. The result of the heart's slow electrical system functioning can cause a heart block.

What Causes Inherited Cardiac Conditions?

There are many trillions of cells in the human body. Each cell has a nucleus, which contains the information that defines a person's individuality. This information is known as the genome. Between 20,000 and 25,000 distinct genes are present in them. A mutation or fault in one or more genes is the root cause of inherited cardiac problems. It is possible to have a faulty gene that causes a heart problem, but the person never develops any signs or symptoms of the disease. There is no way to predict how the child may be affected if this arises, but they can still pass on the defective gene to their kids. If one of the parents has a defective gene, the children may have a 50:50 chance of inheriting it.

What Are the Symptoms of Inherited Cardiac Conditions?

Families may be unaware of several signs and symptoms associated with cardiovascular genetic diseases. If symptoms do appear, they may include the following:

• Chest pain.

• Fatigue.

• Heart palpitations.

• Blackouts.

• Lightheadedness.

• Fainting.

• Shortness of breath.

• Dizzy spells.

• Sudden cardiac death.

How Is An Inherited Cardiac Condition Diagnosed?

The doctor will perform a physical exam, record personal and family medical histories, and elicit the timing of the symptoms. In addition, your physician will recommend a genetic test. This examination will make understanding the present and potential risks of developing cardiovascular disease easier. Diagnostic tests and procedures are given below:

Cardiac Catheterization - This treatment helps the physician to measure blood pressure in the heart chamber, look for abnormalities in the heart chambers or valves, take blood samples to monitor the oxygen concentration in the heart chambers, and remove heart tissue samples.

Computed Tomography (CT Scan) - A CT scan generates detailed, high-quality pictures of the coronary circulation, heart anatomy, and major vessels.

Magnetic Resonance Imaging (MRI) - MRI produces finely detailed, high-resolution cross-section pictures of the body's blood arteries, heart, bones, and soft tissues using a strong magnet and radio waves. Additionally, it detects specific diseases and monitors how well you respond to treatment.

Echocardiogram (ECHO) - It creates images within your heart using high-frequency sound waves (ultrasound). These images can determine your heart's dimensions, shape, thickness, and movement of the heart wall.

Electrocardiogram (EKG/ECG) - This device detects electrical activity in a heartbeat. This electrical activity is captured on graph paper as wavy lines. ECG helps in the detection of arrhythmias (abnormal heart rhythms).

Stress Tests - Stress tests help assess how effectively the heart can withstand stress. During this test, the human body uses more energy, which usually requires the heart to pump more blood. The test can demonstrate whether there is insufficient blood flow via the arteries leading to the heart.

How Is Inherited Cardiac Disease Treated?

Numerous methods are available to prevent and treat your conditions. Changing a person's lifestyle, using medications, and having surgery are all possible treatments.

How to Treat Inherited Cardiac Disease With Lifestyle Changes?

• Eat a well-balanced, healthy diet.

• Exercise regularly and be physically active.

• Manage a healthy weight.

• Avoid drinking alcohol.

• Quit or avoid cigarette smoking.

• Manage the stress level.

• Visit the physician for regular check-ups and follow-up tests.

What Drugs Are Used to Treat Hereditary Cardiac Disease?

• Antiarrhythmic drugs will aid in regulating the heart's rhythm.

• Beta-blockers can help lower blood pressure.

• Calcium channel blockers can assist blood arteries in relaxing and widening, slow down the heartbeat, and lower blood pressure.

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

• Blood thinners or anticoagulants can treat, prevent, or minimize blood clots.

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

• Protein stabilizers and drugs that alter genes.

What Are the Medical and Surgical Techniques Used to Treat Inherited Cardiac Disease?

Cardiac Ablation - The "natural pacemaker" of the heart or an electrical impulse from the sinus node typically triggers the heartbeat. The signal controls the timing of cardiac cell activity as it travels from the top of the heart to the bottom. It follows a precise route to the ventricles for the heart to function correctly. An arrhythmia happens when the regular flow of electrical impulses is altered in any way.

Cardioversion - An electrical shock is given to the heart during this minimally invasive technique to restore a cardiac rhythm that has become abnormal (arrhythmias).

Coronary Artery Bypass Grafting (CABG) - It is otherwise called bypass surgery. It allows a section of a healthy blood vessel from the body to bypass the blocked portion of the coronary artery (veins from the leg or arteries from the chest or forearm).

Heart Transplantation - It is a kind of open-heart surgery in which a person's diseased or failing heart is replaced or removed with a healthy one from a deceased donor. Patients with advanced heart failure usually receive heart transplants.

Conclusion

People suffering from genetic cardiovascular disease can also lead a normal active everyday life. However, it depends on the severity of the disease and its symptoms. As the condition worsens, it can raise the risk of blood clots and other heart-related disorders. In addition, medical diagnosis and screening are advised for family members of those with sudden cardiac death. Therefore, if the symptoms worsen, it is essential to make lifestyle modifications.