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Cardiology Genetic Counseling Services

What is genetic testing and how can it help?

The overall goal of genetic testing is to provide you and your health care provider with more answers about the cause of an inherited heart condition. Genetic testing involves providing a sample of blood or saliva to be sent to a laboratory for DNA analysis. The laboratory uses technology to look at the genes you inherited from your parents.

Sometimes, genetic test results can be inconclusive or difficult to understand. It’s important to meet with a certified genetic counselor that can help you understand what your results mean.

Genetic risk assessment for inherited heart conditions

What is an inherited heart condition?

Inherited heart conditions affect the cardiovascular system and can be passed down in families. The majority of inherited heart conditions can affect individuals at any age. Some people may not have symptoms and may not know they have the condition until someone else in the family is diagnosed.

Examples of inherited heart conditions:

  • Inherited arrhythmias, such as long QT syndrome, may cause an abnormal heart rhythm which leads to symptoms like dizziness, fainting and heart palpitations.
  • Cardiomyopathies are problems caused by abnormalities of the heart muscle. Hypertrophic cardiomyopathy is associated with abnormal thickening of a portion of the heart muscle. This can lead to symptoms such as heart palpitations, dizziness, fainting, chest pain or shortness of breath.

Who should be referred for a genetic counseling appointment?

The need for genetic testing can vary based on your heart condition and family history. The testing is completely voluntary, so talk with your doctor about whether it is right for you. Determining the genetic basis of a heart problem can be helpful for your own health and for that of your family members. Current national guidelines recommend genetic counseling for individuals with a possible inherited heart condition.

Clues in a family history:

  • family member(s) who experienced sudden cardiac arrest or death, especially at a young age
  • family member(s) that experienced aortic aneurysm or dissection
  • family member(s) with unexplained abnormal cardiac testing, such as EKG or echocardiogram
  • family member(s) experiencing chronic heart palpitations, fainting, shortness of breath, etc., that are not explained by another medical condition

Genetic counseling should be considered for individuals who have:

  • suspected or clinically diagnosed inherited heart condition
  • known family history of an inherited heart condition

The genetic risk assessment offers

  • genetic evaluation - confidential assessment of personal and family history to identify individuals at increased risk for an inherited condition
  • genetic education - information on inherited heart conditions
  • prevention options - recommendations regarding lifestyle change and medical prevention programs according to national guidelines

  • screening options - recommendations for  an appropriate and reassuring screening program according to national guidelines
  • genetic testing - access to testing when indicated
  • research protocols - access to studies on  the genetics of inherited heart conditions, screening and prevention when indicated

What to expect at your genetic counseling appointment

At your genetic counseling appointment, you will meet with a Ph.D. Medical Geneticist or Genetic Counselor. These board-certified health care professionals are trained to assess family history and provide education on inherited conditions.