Cardiac Genetic Testing

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Cardiac Genetic Testing for Those 65 and Over

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Cardiac Genetic Testing for Those 65 and Over

Clear Bridge Biomedics offers at-home cardiac genetic testing through our partners at Kardia Guard. When you order this free test, we will send the testing kit directly to your doorstep. Simply follow the instructions included in the kit and perform a cheek swab. Then package up your genetic sample and return it by mail to our lab. A team of expert medical scientists will test your sample for the relevant genes and return the results to you and your medical professional as soon as possible.

What is Cardiac Genetic Testing?

Cardiac genetic testing is a way for doctors to examine someone’s genetic makeup to discover the root cause of a family disease. Everything in our body is controlled by little bundles of information called genes. When one of those bundles changes (called a mutation) it can cause diseases to present themselves in a person. Because parents can pass their genes down to their children, these genetically linked diseases often can be seen running in families. Cardiac genetic testing identifies any malicious genes related to heart diseases.

This test can also help doctors determine who might be most at risk for getting the same genetic disease. Once one member is determined to carry a mutated gene, doctors often recommend other closely related members of the family get tested to identify who carries the gene and who will be most effected by it. If someone else shows the gene, the next closest family members will also get tested. Ideally, this cascade continues until the family doctors have a clear view of who does have the possibility of developing the disease, who simply carries the gene but will not likely ever get sick, and who does not possess the mutated gene. This process is called cascade genetic testing.

What is genetic heart disease?

A genetic heart disease is simply a heart disease or condition that is caused by a mutation in someone’s genes. Many heart conditions can be genetic and can be passed from parent to child. These diseases are not infectious, so they cannot be passed from person to person outside of the parent-child relationship.

Having a mutated gene does not guarantee that someone will develop a genetic disease. Having a mutated gene simply means that someone is much more likely than the average person to develop the condition. If you take a cardiomyopathy as an example, there can be several reasons someone can develop a cardiomyopathy. Some infectious diseases or viruses affect the heart’s ability to pump blood in an otherwise average person, giving them a cardiomyopathy. In this example, the average person might have a 10% chance of developing a cardiomyopathy from a complication in an infectious disease. Someone with a mutated gene that gives them a predisposition for a cardiomyopathy might instead have a 70% chance of developing a cardiomyopathy from the same complication, or might just develop one without getting infected at all!

Some types of genetic diseases

Cardiomyopathies

  • Hypertropic Cardiomyopathy: This is a condition in which the walls of the heart are thicker than normal. These thickened walls stiffen as the patient gets older, sometimes leading to a decrease in the amount of blood pumped through the body. This condition is caused almost entirely by a gene mutation, but is not always detrimental to the patient’s way of life.
  • Dilated Cardiomyopathy: this is a condition in which the walls of the heart are thinner than normal. Because the heart muscle is weaker than normal, it overcompensates by attempting to pump more blood. Often, this can lead to heart failure.
  • Arrhythmogenic Right Ventricular Cardiomyopathy: this is a condition in which portions of the heart muscle thin and weaken over time. This thinning and weakening of the heart muscle increases the chances of an arrhythmia later in life, and introduces the potential for sudden death.
  • Restrictive Cardiomyopathy: this is a condition in which the heart muscles stiffen over time, preventing the heart muscle from relaxing and taking in new blood. Restrictive cardiomyopathy can, in later stages, lead to fluid buildup in the heart and heart failure.

Arrhythmias

  • Long QT Syndrome: this is a condition in which the heart beats irregularly fast. Often, this disease is not detected on its own, instead showing up on unrelated EKG tests for other diseases. Long QT Syndrome is a cardiac genetic disease that can cause seizures, fainting, and heart failure.
  • Brugada Syndrome: This is a condition in which the lower chambers of the heart beat irregularly and out of sync with the rest of the organ. Because this keeps the heart from pumping blood, Brugada syndrome can cause rapid fainting and death if not discovered early. This is why cardiac genetic testing is often highly recommended for anyone experiencing heart problems.
  • Catecholaminergic Polymorphic Ventricular Tachycardia: This is a condition in which the heart accelerates at an abnormally fast rate. This can lead to lightheadedness, fainting, and potentially heart failure.
  • Short QT Syndrome: This is a condition in which the heart takes less time to rest in between beats. This leads to a lack of blood being pumped through the body because fresh blood cannot fill the heart’s cavities before the next beat. In some people, this disease has few symptoms and does not impact their quality of life. In others, it is serious and dangerous, requiring medication.
  • Sudden Arrhythmic Death Syndrome: This is not exactly a condition in and of itself. Instead, sudden arrhythmic death syndrome is a description for any genetically caused, seemingly overnight arrhythmic death. Often, these deaths are the result of undiagnosed genetic diseases, and the remaining members of the family often undergo a cascade of genetic tests to identify the cause.

Marfan Syndrome

Marfan syndrome is a genetic condition in which the connective tissue in the body becomes thin and brittle, rupturing easily. While this can cause a number of problems throughout the body, one of the most common serious side effects of this disease is heart failure. Because the heart is always pumping, it can wear out its connective tissue far faster than other muscles, leading to heart failure and death.

Who should take a cardiac genetic test?

If your doctor has prescribed a cardiac genetic test to diagnose or confirm any of the above diseases, you need to order a genetic test. Clear Bridge Biomedics offers a free at-home cardiac genetic test to screen for all of these diseases, and more.

If your family has a history of cardiac events, including fainting, irregular heartbeats, or sudden arrhythmic deaths, please consider ordering a free genetic test.

If someone in your immediate family has been diagnosed with a genetic cardiac disease or you are concerned about passing on an inherited disease to your children, a cardiac genetic test might be right for you.

If you have been experiencing  any of the below symptoms, you might also consider genetic testing.

  • Any patient that is exhibiting cardiac symptoms or with a family history of cardiac disease.
  • Unexplained cardiac arrest or sudden deaths in the family that might have been caused by an undiagnosed heart disease.
  • Unexplained fainting, or fainting with exercise or emotional stress.
  • Unexplained seizures, or seizures with normal neurological evaluation.
  • ICD/pacemaker at under 50 years of age.
  • Heart failure at less than 60 years of age.
  • Enlarged heart.
  • Irregular heartbeat.
  • Early heart attack, coronary artery disease or stroke (men under 55, women under 65)

Cardiac Genetic Testing FAQ

If I test positive, does that mean I have the disease?

Not necessarily, just that you are at a higher risk for developing the disease. If you take a cardiomyopathy as an example, there can be several reasons someone can develop a cardiomyopathy. Some infectious diseases or viruses affect the heart’s ability to pump blood in an otherwise average person, giving them a cardiomyopathy. In this example, the average person might have a 10% chance of developing a cardiomyopathy from a complication in an infectious disease. Someone with a mutated gene that gives them a predisposition for a cardiomyopathy might instead have a 70% chance of developing a cardiomyopathy from the same complication, or might just develop one without getting infected at all! This is why knowing what your genes say about your body is so important!

Is there any way I can keep from getting the disease if I have the genetic mutation but no symptoms?

Yes, there often are steps you can take to prevent yourself from getting a cardiac genetic disease. None of these recommendations are guaranteed. If you have the mutation, there is always a chance you simply just develop the disease, but following these steps might lessen the effects and make your heart stronger. First, always ask your doctor for information on how to prevent heart disease. They will have more specific recommendations. Second, often a heart healthy diet, low on cholesterol and high in nutrients, greatly benefits any patient with heart disease. Third, depending on the specific disease, you might consider light exercise and other heart healthy physical habits to strengthen circulation and heart muscle. This is especially important if you have family with the disease but you do not yet have symptoms.

How do I know what my results are?

You will have your results returned to you when the test is concluded at Clear Bridge Biomedics, but you might not know what to do with them. Most experts recommend contacting a genetic counselor before, during, and after your decision to take a genetic test for several reasons. 1) while there are no inherent physical risks to genetic tests, you may not actually want to know the results. The choice to know is sometimes a difficult one and should be considered thoroughly. 2) Genetic information is very complicated and not easily understood by the average person looking at a results spreadsheet. Genetic counselors help everyday people interpret the results in helpful and relevant ways, leading to informed medical decisions.

 

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