Genetic testing a tool for families struggling with certain heart conditions

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Studying the hereditary roots of certain cardiovascular diseases could help patients and their doctors make decisions, identify risks and manage treatment, according to a new report.

The American Heart Association’s scientific statement summarizes what is known – and what needs further research – about the genes that influence heart disease and how genetic testing can impact the management of these conditions. The report was published Thursday in the journal Circulation: genomics and precision medicine.

“With most genetic cardiovascular diseases, inheriting a mutation (or variant) from a parent greatly increases the risk of contracting the disease but does not guarantee the disease,” said Dr. Kiran Musunuru, president of the statement drafting group, in a press release. .

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

Cardiovascular conditions that may have an inherited genetic component, according to the statement, include:

– cardiomyopathies, diseases of the heart muscle that can lead to heart failure

– aneurysms and dissections of the thoracic aorta, which can cause swelling and rupture of the main artery of the body

– arrhythmias, abnormal heart rhythms that can be fatal

– familial hypercholesterolemia, extremely high LDL cholesterol levels which greatly increase the risk of heart attack

“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 Musunuru.

Before considering testing, the statement says a health care provider and patient should document family medical histories, ideally going back three generations, to determine if there is a pattern of certain types of heart disease. Then, screening should be reserved for people diagnosed with or suspected of having an inherited cardiovascular disease, or those who have a family member with a genetic variation for one of the conditions.

Since immediate family members such as parents, siblings, or children may share genetic variants that predispose them to inherited heart disease, they are considered to be at higher risk for these diseases. So, once a genetic variant is identified, immediate family should consider testing and counseling, the statement said.

Despite advances in human genetics that have improved the understanding of inherited cardiovascular disease, the statement cautions that there are still many unknowns. In many cases, genetic testing may be inconclusive. Or a person diagnosed with an inherited cardiovascular disease may not test positive for the genetic variations.

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

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