After answering practical questions about genetic testing, we want to focus on one of the most common tests – Cardiac Genetic Testing.

So what is Cardiac Genetic Testing?

Cardiac genetic testing identifies any malicious genes related to heart diseases in your family’s genetic history.
Doctor’s use this to examine a person’s genetic makeup to discover the root cause of a family disease.

Our bodies are controlled by small bundles of genes. When one of those bundles changes it leads to a mutation. This mutation in a person’s genes can cause a disease to present itself.

Because parents pass their genes down to their children, these genetically linked diseases often can be seen running in families. 

How does a Cardiac Genetic Test help your entire family?

This type of genetic test can also help a doctor identify if a family member can be at risk for developing the same genetic disease.

Once the mutated gene is identified in one member of the family, a doctor will often recommend other closely related members of the family get tested. Through this they can identify who carries the gene and who will be most effected by it.

If the gene is identified in another family member, this will help all families to seek out preventative care before symptoms of the disease arise.

Let’s take a moment to look deeper into what this is and the implications of a ‘Genetic Heart Disease’.

  • A variety of heart conditions can be caused by a mutation in genes
  • If the heart disease (or condition) is caused by a mutation in genes it can be passed down to children
  • Heart diseases caused by gene mutations are not infectious, therefore 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 it is much more likely they will develop the condition more than the average person.

Let’s take a look at cardiomyopathy as an example. Some infectious diseases or viruses affect the heart’s ability to pump blood in an average person, giving them a cardiomyopathy.

The average person might have a 10% chance of developing a cardiomyopathy from a complication in an infectious disease.

But someone with a mutated gene has a genetic predisposition for cardiomyopathy and therefore might have a 70% chance of developing a cardiomyopathy.

Common Genetic Heart Diseases

Cardiomyopathies is the most common type of Genetic Heart Disease. This is a disease of the heart muscle that makes it harder for the heart to pump blood to the rest of the body.

  • 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.

Although Hypertropic Cardiomyopathy is the most common genetic heart disease below we list a few more that are also well documented.

  • 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. This can often 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.

One of the most common types of Genetic Heart Diseases are different types of Arrhythmias. This is an abnormality in the timing or pattern of the heartbeat.

  • 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.

This is not an exhaustive list of genetic heart diseases but these are some of the most commonly found diseases in the United States. If you are experiencing any of these symptoms or suspect any of these diseases it’s important to contact your primary care physician to discuss your treatment options as soon as possible.

From the FTC Fact Sheet on Genetic Testing

Link To The FTC Fact Sheet

These are two important facts to keep in mind reported by the FDA regarding at-home consumer genetic testing:

Validity of Genetic Tests According To The FDA And CDC

According to the Food and Drug Administration (FDA), which regulates the manufacturers of genetic tests; and the Centers for Disease Control and Prevention (CDC), which promotes health and quality of life, some of these tests lack scientific validity, and others provide medical results that are meaningful only in the context of a full medical evaluation

Claims Of Genetic Tests

Having a particular gene doesn’t necessarily mean that a disease will develop; not having a particular gene doesn’t necessarily mean that the disease will no.

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