Pinpointing genetic causes for heart disease is a complex and dynamic process that changes rapidly as new discoveries are made.
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There are a few important things to keep in mind if you want to explore your family’s genetic risk for certain heart disorders.
Checking for risk factors and genes
While the genetics of many common cardiovascular disorders are unknown, family history can often be used to help determine cardiovascular health risks. In some cases, the genetics might be known and in that case the family has the option to be screened for the presence of an abnormal gene.
“A primary care physician can help collect your family history and determine whether or not additional evaluations, like a referral for genetic counseling, are necessary,” said clinical geneticist Rocio Moran, MD. “In some cases, genetic testing might be helpful.”
Deciding whether to test a child
It’s not always necessary to test children at an early age, even when screening has shown a potential risk for a family to have a condition. Some genetic disorders do not have symptoms until adulthood and knowing whether a child has the disorder would not alter medical management.
Parents work with geneticists and genetic counselors to make this personal choice about whether to test a child; often times, parents wait until children are old enough to decide for themselves if they want the genetic information.
Factors to look at when deciding to test
Family members, genetic counselors and physicians should jointly consider the advantages and possible disadvantages of genetic testing. Among many factors are:
- The disease in question
- Impact on the family
- Impact on a child
- Changes in medical management: Current and future screening and treatment
Using genetics to identify the disease
If you decide to participate in genetic testing, begin with the person who has the condition. If a gene that causes the disease is identified, additional counseling can help the family decide which family members would benefit from this information.
“Utilizing genetics to identify the disease makes it much easier to know who needs additional medical screening or treatment and who can return to population-based screening and treatment,” says Dr. Moran.
Many different tools can be used to help geneticists and genetic counselors identify the genetic cause of a particular disorder in a family. These tools include:
- Understanding the natural history of the symptoms in question
- Reviewing the family history to understand how the disorder might be inherited and identify family members who might benefit from testing or screening
- Recognizing any other medical problems or symptoms that might provide clues to the diagnosis
In a patient such as Porter Lyons, the fact that he showed symptoms of cardiomyopathy at an early age was a clue that this was a disorder with a likely genetic cause. As a result, he underwent genetic testing to help provide his physicians and his family with additional information about how to personalize his treatment.
Getting access to the right tests
A physician, geneticist or genetic counselor can order many genetic tests through a regular lab. There are times, however, when despite having a strong suspicion of a genetic disorder, such as the case with Porter Lyons, the testing comes up normal. This is when physicians like Dr. Moran collaborate with researchers from around the world to provide families access to additional, advanced testing for their patients. These collaborations have been critical to providing the much-needed genetic answers to patients and their families.
If you have concerns about the medical conditions that run in your family, always talk to your primary care physician. If your family member has a positive gene for a medical condition, ask your doctor if you should see a specialist to determine if genetic testing is necessary.