Understand More about Hereditary Cardiovascular Conditions
Being diagnosed with a hereditary condition can be scary. That’s why early detection is so important and can make all the difference in the world when it comes to getting in front of a disease.
Know The Basics
what is an inherited cardiovascular disorder?
There are many different disorders that involve the heart. Some of these are more likely to run in families than others. Inherited heart diseases are those that run in families and are caused by a change (or mutation) in one gene or in a number of genes. There are many categories of inherited heart diseases including cardiomyopathies, arrhythmias, thoracic aortic aneurysms and dissections, and familial hypercholesterolemia.
what are symptoms of an inherited cardiovascular disorder?
Symptoms vary from person to person, but inherited cardiovascular disorders can cause shortness of breath, fatigue, chest pain, palpitations, fainting, coughing, nausea, or even sudden death in rare cases.
causes for inherited cardiovascular disorders
Most inherited heart disorders are passed down in an autosomal dominant pattern and often show up in multiple generations in a family. These disorders can also be associated with death at a young age due to sudden cardiac arrest or an aortic dissection. Knowing if you are at an increased risk for one of these disorders can help make sure that you and your relatives get the proper medical care to prevent any serious events.
Other heart diseases can run in families in a more complicated pattern. Often, these are caused by the combination of genes that are passed down and environmental factors, including diet, exercise, smoking, ethnicity, gender and more. If you have a family history of high cholesterol, heart attacks or stroke, you may have an increased risk for heart disease.
Should You Have Genetic Testing?
If you answer “yes” to any of the questions below, hereditary cardiovascular genetic testing may be something for you and/or your
family members to consider.
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Have you/your family members* been diagnosed with any inherited heart disease/disorder? |
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Have you/your family members* been diagnosed with high cholesterol? |
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Is there any history of a sudden unexpected death or cardiac arrest in your family? |
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Does anybody in your family have a pacemaker or implantable cardioverter defibrillator (ICD) device? |
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Is there a personal or family history of unexplained fainting or passing out? |
Your healthcare provider may identify other reasons why you could consider genetic testing.
* ”Family members” refers to blood relatives, such as brothers/sisters/parents/grandparents/aunts/uncles/cousins
What are the Benefits of Genetic Testing?
finding a genetic cause for you/your family members’ cardiovascular disorder can help:
- Confirm or rule out a suspected inherited heart disease or help determine your chance of developing or passing it on
- Confirm a diagnosis, particularly when clinical criteria are unclear or borderline in an individual
- Choose a better medicine or other treatment method
- Identify an inherited mutation following a sudden unexplained death with autopsy findings
- Offer family members genetic testing (for a familial mutation) and implement medical surveillance to only those that need it
- Clarify risks to family members, including the inheritance pattern
- Reduce healthcare costs, resources, and anxiety for families
what happens if i test positive for a gene mutation?
There is a 50/50 random chance that each of your children, brothers, sisters, and parents, also has this same mutation. The picture below shows how people carry and pass on these mutations. Your family members can now be tested for this mutation, if they would like. Any family members who also carry the mutation are at increased risk to develop the cardiovascular disorder and should be followed by a cardiologist. Any family members who test negative for this mutation are likely not at increased risk for the cardiovascular disorder and should not need to have a cardiologist follow them closely.
Possible Genetic Test Results
Positive
A mutation was found in at least one of the genes tested
There may be management recommendations specific to the gene that has a mutation
Genetic testing for certain family members may be recommended
Negative
No genetic changes were found in any of the genes tested
Management recommendations are based on personal and family history
Talk to your healthcare provider to find out if genetic testing should be considered for your family members
variant of unknown significance (vus)
At least one genetic change was found, but it is unclear if this change causes the cardiovascular disorder or not
Management recommendations are based on personal and family history
Talk to your healthcare provider to find out if genetic testing should be considered for your family members
It is possible to have a combination of positive and VUS results, since multiple genes are tested.