Genetic Testing for Inherited Cardiac Conditions

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What is Inherited Cardiac Conditions?

Genetics can influence the risk for heart disease in many ways. Inherited cardiac conditions can affect people of any age and can be life threatening. As genes control every aspect of the cardiovascular system, one single variation (mutation) in one single gene can affect the likelihood of developing heart disease.

It is possible to have a faulty gene leading to a cardiac condition without developing any signs or symptoms. The common inherited cardiac conditions, to name a few may include:

• Long QT Syndrome
• Comprehensive Cardiomyopathy panel
• Dilated Cardiomyopathy panel
• Comprehensive Arrhythmia panel

What is your risk for Inherited Cardiac Conditions?

A person with no family history of cardiac condition is most likely at average risk, but for a person with a family history of such, genetic testing may help to determine the risk of developing any cardiac condition.

Also, if a person has had any cardiac conditions previously, genetic testing may help to determine if there is an increased risk for additional ones.

Is hereditary testing for cardiac conditions appropriate for you?

It may be appropriate if you have a personal or family history of any of the following:

  • More than one cardiac condition in the same person
  • Multiple close family members (younger than 50 years old and on the same side of the family) diagnosed with cardiac conditions
  • 3 or more close family members (of the same side of the family) with different cardiac conditions
  • Rare cardiac conditions at any age

How does genetic testing for Inherited Cardiac Conditions work?

The genetic test is done using a blood sample. Your sample, kept in a special kit, will be sent to the genetic testing laboratory, where genes are analysed for mutations, particularly those that may cause an increased risk of cancer.

With the test results obtained, usually after 8 to 10 weeks, your doctor will discuss the prevention options and recommendations accordingly, and suggest screening and treatments that are relevant.

Genetic Test Results

There are basically 3 possible results, namely:

  • Positive
    The mutation was found, hence increasing the risk of cardiac conditions for the specific gene that has mutated. This indicates that the person is a carrier of that particular cardiac condition, or identifies an increased risk of some cardiac conditions in the future, or suggest a need for further testing.
  • Negative
    No changes or mutations found, hence the person is not affected, is not a carrier, or does not have an increased risk of developing any cardiac condition.
  • Inconclusive
    A genetic change was found, however it is unclear if it is caused by an increased risk for cardiac conditions. It cannot confirm, rule out nor indicate whether the person has an increased risk of developing any cardiac condition.
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Benefits of Inherited Cardiac Condition Testing

By doing the test, it gives you a chance to better understand your risk for being diagnosed with any cardiac diseases. If a positive result is obtained, early treatment and decisions can be planned.

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