Genetic Insights and Prevention Strategies for Heart Failure

Heart failure, also known as congestive heart failure (CHF), is a long-term, worsening condition in which the heart muscle can't pump sufficient blood to supply the body's requirements for blood and oxygen. This can happen when the heart becomes too weak or stiff to function properly.

There are several reasons why you may have heart failure. One common cause is coronary artery disease, where the arteries that supply blood to the heart become narrow or blocked, reducing blood flow. High blood pressure can also lead to heart failure because it makes the heart work harder than normal, which can weaken it over time. Heart attacks, which damage the heart muscle, can also cause heart failure. Other causes include problems with the heart valves, which control blood flow in and out of the heart, and cardiomyopathy, a disease of the heart muscle itself. Additionally, conditions like diabetes, obesity, and certain infections can increase the risk of heart failure.

Certain genetic conditions due to gene abnormalities can unmask later in life and present as heart failure. These genetic mutations can easily be detected using commercially available genetic panel testing using blood or saliva.

In the United States, more than 5 million people have congestive heart failure. It's the most common reason for hospitalization in patients over 65, and one in nine deaths involves heart failure as a contributing factor.

How Genetics Affect Your Heart Health

Unlike heart conditions that you can develop due to aging or lifestyle, inherited heart diseases (also called familial or genetic heart diseases) are passed on through your genes. These heart issues are hereditary.

Genetic variations are traits passed down from parents to their children. During development, the parents' genetic code is copied into every cell of the child's body.

Genes influence every part of the cardiovascular system, from the strength of blood vessels to how heart cells communicate. A mutation in a single or multiple genes can increase the risk of developing heart disease.

Some of the most common inherited heart diseases include:

• Cardiomyopathy: This condition causes the heart muscle to become enlarged, thick, or stiff. Dilated cardiomyopathy and hypertrophic cardiomyopathy are common examples and cause heart failure and/or cardiac arrest in young people, especially athletes. Common conditions are related to genes such as Lamin, Titin, muscular dystrophy genes and others.
• Marfan syndrome and Loey Dietz syndrome: These affect the connective tissues in the heart and blood vessels, increasing the risk of aortic aneurysms.
• Bicuspid aortic valve disease: This occurs when the heart valve has only two flaps instead of three, leading to leakage or narrowing.
• Arrhythmia: This is an irregular heartbeat and includes conditions like Brugada syndrome, long QT syndrome, and others.
• Cardiac amyloidosis: This condition involves the buildup of protein deposits in the heart, making it harder for the heart to pump.

Knowing your genetic risk can help you take steps to manage and reduce the chances of developing heart problems. This might include regular check-ups, a healthy diet, exercise, and avoiding smoking.

Heart Disease—Your Family History

To find out your family history of heart disease, start by talking to your relatives. Ask your parents, siblings, grandparents, aunts, and uncles if they have had any heart-related issues, such as heart attacks, high blood pressure, or heart surgeries. It's important to note the age at which they were diagnosed or experienced these conditions.

It is ideal to document your family’s heart health back three generations and to share it with your healthcare provider. They can help you understand your risk and suggest steps to manage it. Keeping a record of your family's health history and updating it regularly can be very helpful.

Family members who share the same genetic heart abnormality can experience a wide range of symptoms, from very mild to severe, or sometimes no symptoms at all. Most inherited heart conditions can affect individuals at any age.

Genetic Testing

If a close relative has tested positive for an inherited heart condition, you might consider genetic testing. The results can help you manage your risk by avoiding certain medications or activities and making informed decisions about how to best care for your heart.

Genetic testing can help identify the exact genetic mutation causing your heart problem. This can lead to a clearer diagnosis and better treatment options tailored to your individual's needs.

Genetic testing can show if other family members are at risk, and if a genetic mutation is found, relatives can be tested to see if they have the same mutation. This is called cascade testing, and it can help family members take preventive steps or start early treatment if needed.

Lastly, knowing the genetic cause of heart failure can help people make informed decisions about lifestyle changes and monitoring their health. It also provides valuable information for family planning and managing the health of future generations.

Genetic Testing—The Process

Genetic testing for heart failure involves several steps:

Consultation: Start by talking to your primary care physician or cardiologist about your interest in genetic testing so they can refer you to a genetic counselor who specializes in inherited heart conditions.

Genetic Counseling: During your appointment, the genetic counselor will review your personal and family health history, often going back three generations. This helps identify patterns of heart disease in your family

Sample Collection: Genetic testing typically requires blood, hair, or other tissue samples. This sample is sent to a lab where they analyze your DNA for specific genetic mutations linked to heart conditions.

Results Interpretation: Once the results are ready, your genetic counselor or doctor will explain what they mean. If a genetic mutation is found, they will discuss the implications for your health and potential treatment options

Family Testing: If a genetic mutation is identified, your relatives can also be tested to see if they carry the same mutation.

Ongoing Support: Your healthcare team will continue to support you with regular check-ups, monitoring, and any necessary treatments based on your genetic test results.

An appointment for genetics services often involves more detail than other health appointments. Your visit can last approximately two hours due to the complex nature of many genetic conditions.

Prevention and Being Proactive

Heart failure doesn't mean the heart has stopped working or is about to stop. Instead, it means the heart muscle has weakened or has a mechanical issue that limits its ability to fill with blood. This causes the heart to struggle to meet the body's needs, leading to blood backing up and becoming congested. As a result, not enough oxygen-rich blood reaches the body's organs.

To compensate, the heart beats faster, trying to reduce the time needed for refilling after each contraction. Over time, this leads to less efficient blood circulation and can cause heart palpitations. The heart may also enlarge to hold more blood. Fluid can build up in the lungs, causing shortness of breath. When the kidneys don't get enough blood, they retain water and sodium, which can lead to kidney failure. Heart failure often gets worse over time, even with treatment.

To prevent congestive heart failure, it's crucial to avoid the conditions that lead to it. If these conditions do develop, managing them carefully is key.

Avoid smoking at all costs: Smoking can significantly contribute to arterial damage that can lead to heart failure. This includes secondhand smoke.

Adopt a heart-healthy diet: Focus on foods low in saturated fat, trans fat, sugar, and sodium. Choose fruits, vegetables, low-fat dairy, lean proteins like skinless chicken, and healthy fats found in olive oil, fish, and avocados.

Lose weight: If you're overweight, aim to shed some pounds. Being overweight puts more pressure on your heart to work harder.

Exercise: When you exercise, your heart beats faster, which helps improve blood circulation throughout your body. This increased circulation strengthens your heart muscle, making it more efficient at pumping blood. It also helps lower blood pressure and reduce bad cholesterol levels, both of which are risk factors for heart disease. Additionally, exercise improves your body's ability to use oxygen, which can enhance overall cardiovascular health.

Be consistent: If you have any other heart conditions, follow your treatment plan closely. Consistently taking prescribed medications, such as statins for high cholesterol, can have a significant impact.

While there is no cure for heart failure, prevention and treatment can relieve symptoms and slow further damage.

OU Health Genetic Testing and Heart Care

Congestive heart failure/cardiomyopathy is a serious condition, but with the right help you can lead a productive life and be on the path to recovery. Monitor your symptoms and your health, and work with your health care provider to find the right treatment for you.

Learn more about comprehensive, multidisciplinary heart care or get a second opinion by calling (405) 271-7001.