Genetic testing of tools for families dealing with specific heart diseases

American Heart Association News

Published

Thursday, 23 July 2020 1:03 pm

Researching the genetic roots of some cardiovascular diseases could help patients and their physicians make decisions, identify risks, and manage treatments, according to a new report.

The American Heart Association scientific statement summarizes what is known about the genes that affect heart disease, and what further research is needed, and how genetic testing affects how those conditions are managed. doing. The report was published Thursday in Circulation: Genomic and Precision Medicine.

“In most inherited cardiovascular diseases, inheriting a mutation (or variant) from a parent significantly increases the risk of contracting the disease, but does not guarantee the disease,” Kiran Musnur, a statement writing group. He said in a news release.

“In some cases, it may be possible to act early to prevent the disease,” said Musnull, a professor of cardiovascular medicine and genetics at the Perelman School of Medicine in Philadelphia at the University of Pennsylvania. “In other cases, having a genetically-induced mutation in cardiovascular disease may lead to a different and perhaps more aggressive treatment.”

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

– Cardiomyopathy, a myocardial disease that can lead to heart failure

– Thoracic aortic aneurysm and anatomy. It causes the body’s aorta to swell and burst.

– Arrhythmias, potentially fatal abnormal heart rhythms

– Very high LDL cholesterol levels that significantly increase the risk of familial hypercholesterolemia, heart attack

“While genetic testing has seen explosive growth over the past few years, genetic testing for heart disease should be reserved for specific patients, both in the clinical setting and directly to consumers.” He said.

Before considering testing, providers and patients should document their family medical history and ideally go back three generations to determine if there are patterns of certain types of heart disease. States. Second, you need to schedule screening for people who have been diagnosed with, or are suspected of having, hereditary cardiovascular disease, or for whom one of the family members has a genetic mutation in one of the medical conditions.

Relatives, such as parents, siblings, and children, are considered at high risk for this disease because they share genetic mutations and can predispose to hereditary heart disease. Therefore, relatives should consider testing and counseling once a genetic variation is identified, the statement said.

Despite advances in human genetics to improve understanding of hereditary cardiovascular disease, the statement warned that there are still many unknowns. Genetic testing is often inconclusive. Alternatively, a person who has been diagnosed with hereditary cardiovascular disease may not test positive for a genetic mutation.

“Another problem is that we have not yet defined the complete spectrum of genes responsible for various hereditary cardiovascular diseases. We are still in discovery mode and are continuing our research efforts.” Musunuru said. “As genetic testing evolves, reliable classification of genetically identified variants will continue to be a major challenge to clinical genetics practice.”

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