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Genetic testing provides relief for family with a history of heart problems

Several members of Sally Christenson’s family share a genetic mutation that puts them at a higher risk for a heart condition. She wanted to know whether her sons were at risk.
Sally Christenson (left) and members of her family share a gene mutation that puts them at higher risk for a heart condition. Worried her two sons (center) might share the same mutation, Sally decided to have them screened. “It is scary waiting to find out the results, but it’s better to know and to be proactive than to stay in the dark or do nothing,” she said.

For Sally Christenson, deciding whether to get her two sons genetically tested for the heart disease that runs in her family was easy.

“It was a no brainer. I had to know. Otherwise I would just worry about them all the time,” she said.

Christenson suffered a cardiac arrest in 2015. After the episode, Christenson found out she—like her mother, brother and other relatives—has a unique gene mutation that put her at a higher risk for developing hypertrophic cardiomyopathy (HCM). HCM is a common condition that causes the heart muscle to thicken, which in turn can block blood flow within the heart and lead to cardiac arrest.

That discovery prompted her to bring her young sons in to meet with Sarah Kreykes, a genetic counselor with University of Minnesota Health Heart Care. Kreykes and other University of Minnesota Health care providers have been following Christenson’s family for years. Christenson wanted to know: Were either of her sons affected by the same genetic abnormality? Were they at risk for developing hypertrophic cardiomyopathy?

Genetic testing services can detect a problem early, and can help a person anticipate future health needs. It also enables care providers to take a proactive approach to the treatment of a health condition.

Kreykes offers counseling to people with a demonstrated family history of certain types of cardiac disease. In addition to at-risk patients, the clinic offers testing to their families or to families in which a sudden cardiac death has occurred.

Learn more about our genetic counseling services for congenital heart disease or call 612-676-5961 to make an appointment with a cardiovascular genetic counselor.

When many people hear about cardiac or cardiology conditions, they often think heart attack or coronary artery disease, but Kreykes said genetic testing is limited for people with those conditions. In reality, the conditions that she tests for most include:

  • Hypertrophic cardiomyopathy
  • Dilated cardiomyopathy
  • Arrhythmogenic cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy/or dysplasia (ARVC/D)
  • Long QT syndrome
  • Brugada syndrome
  • Aortic aneurysms and dissections
  • Familial hypercholesterolemia (high cholesterol)

“If there’s a family history of one of these cardiac diseases, people can come in for genetic counseling to discuss what testing options may be available,” Kreykes said. To determine whether someone is at a higher risk for a disease, a provider will take a small blood sample and examine DNA in the blood for abnormalities.

“We know that certain genes are related to certain conditions. So, we’re basically doing a spellcheck to see whether there are any DNA changes or errors that have occurred in a particular gene,” Kreykes said.

Depending on the results, testing can also reduce anxiety for families facing the threat of hereditary health problems. Christenson’s case is a perfect example: Both of her sons’ tests came back negative for the gene mutation linked to HCM.

Learn more about University of Minnesota Health Heart Care.

Going through the testing process with Kreykes was calming and educational, Christenson said. If her sons hadn’t received testing, her concerns would have been unaddressed.

“It is scary waiting to find out the results, but it’s better to know and to be proactive than to stay in the dark or do nothing,” she said.

Kreykes doesn’t tell people she counsels whether to undergo testing. She and other counselors educate and advise people on the pros and cons of getting tested.

“As counselors, we don’t say: ‘You have to do this test and here’s why,’” Kreykes said. “Ultimately, you’re the one who must decide whether you want to be tested.”