Genetic testing for heart disease can help patients and families identify risks


Heart muscle becomes enlarged, thick, or stiff in cardiomyopathy, and in rare cases, muscle tissue is replaced with scar tissue. Credit: American Heart Association

Genetic Testing and Counseling for Inherited Cardiovascular Diseases Can Help Patients and Their Families Make Informed Decisions About Managing Their Heart Health, According to “Genetic Testing for Inherited Cardiovascular Diseases,” a New Scientific Statement from the American Heart Association, published today in the association journal Circulation: genomic and precision medicine.

The statement summarizes what we know – and don’t know – about genes or the combination of genes that can influence inherited heart disease and also provides best practice suggestions for genetic testing.

“Although genetic testing has seen explosive growth in recent years, both in the clinical setting and with direct-to-consumer testing, genetic testing for heart disease should be reserved for specific patients,” said Kiran Musunuru, MD, Ph.D., MPH, ML, FAHA, Chairman of the Scientific Statement Writing Group and Professor of Cardiovascular Medicine and Genetics at the Perelman School of Medicine at the University of Pennsylvania in Philadelphia.

According to the statement, cardiovascular diseases that may have an inherited genetic component include:

  • cardiomyopathies, diseases of the heart muscle which can lead to heart failure;
  • thoracic aortic aneurysms and dissections, syndromes that cause the main artery in the body to swell and rupture;
  • arrhythmic disorders that predispose people to abnormal, life-threatening heart rhythms; and
  • familial hypercholesterolemia, or very high LDL cholesterol levels which greatly increase the risk of a heart attack.

Before considering genetic testing, a healthcare provider should work with the patient to document their family medical history, ideally over three generations, to determine if there is a pattern of certain types of heart disease. Genetic testing should generally be reserved for patients with a confirmed or suspected diagnosis of inherited cardiovascular disease or those at high risk due to a variant causing the disease previously identified (a genetic defect that is different from most humans. , often responsible for the disease in question) in their family.

Genetic counseling is essential before genetic testing to educate patients about the process and potential results, as well as the potential risks and uncertainties associated with testing. Counseling is also essential after genetic testing, so that the counselor can explain the results and potential consequences for the health of the patient and the health of family members, including children.

Since immediate family members (first-degree relatives such as fathers, mothers, siblings or children) may share genetic variants predisposing them to inherited cardiovascular disease, they are considered to be more at risk. risk for the same conditions. Once a genetic variant is identified within a family, all first-degree relatives should consider undergoing genetic testing and counseling for that specific mutation whenever possible.

Genetic counselors can also advise and support patients on the best ways to communicate news of any genetic variation they may discover through genetic testing to other family members. Although privacy laws restrict the ability of healthcare professionals to disseminate information directly to potentially affected loved ones, they can provide written letters explaining genetic findings, which patients can pass on to family members. .

“With most genetic cardiovascular disease, inheriting a mutation (or variant) from a parent greatly increases the risk of getting the disease but does not guarantee the disease,” Musunuru said. “In some cases, it might be possible to act early and prevent the disease. In other cases, having the mutation of a genetic cardiovascular disease might lead to a different and perhaps more aggressive treatment. “

Advances in human genetics are improving our understanding of a variety of inherited cardiovascular diseases. However, there are still limits. Genetic testing may not reveal a cause or confirm a diagnosis of the patient’s disease.

In many cases, genetic testing can reveal a mutation called “not interpretable” or a “variant of uncertain significance”. A variant of uncertain significance, or SUV, is not considered to be definitely pathogenic (causing disease) or benign, which means that it is not clear whether the patient is at increased risk for disease. Since it is not clear whether the SUV increases the risk of disease or not, it can be difficult for doctors to advise patients on the appropriate treatment.

It is also possible that a patient will be diagnosed with inherited cardiovascular disease, but genetic testing does not reveal any genetic mutations. It is therefore difficult to explain why the patient has the disease and if any of their family members are also at risk.

“Another problem is that we have not yet clarified the full spectrum of genes responsible for various hereditary cardiovascular diseases. We are still in discovery mode, with research efforts ongoing,” added Musunuru. “Methods of genetic testing are evolving, and reliable classification of variants identified in genetic testing will remain a major challenge for the practice of clinical genetics.”

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Provided by the American Heart Association

Quote: Genetic Testing for Heart Disease Can Help Patients and Families Identify Risks (July 23, 2020) Retrieved November 18, 2021 from patients-families.html

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