AHA says genetic testing for certain CV conditions can help guide decisions

The American Heart Association (AHA) believes that genetic testing can improve the understanding of a variety of inherited cardiovascular diseases and could help patients and health care providers make decisions, identify risks, and manage treatment.

AHA outlined current best practices for genetic testing for the management of inherited cardiovascular diseases in a new scientific statement, which was published this July in the journal Circulation: Genomic and Precision Medicine.

"In some cases, it might be possible to act early and prevent the disease," said Kiran Musunuru, MD, chair of the statement’s writing group, in a news release. "In other cases, having the mutation for a genetically caused cardiovascular condition might lead to different and possibly more aggressive treatment."

However, he said that while inheriting a mutation or variant from a parent substantially increases the risk of getting the disease, it does not guarantee the disease.

"Although genetic testing has seen explosive growth in the past few 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, who is a professor of cardiovascular medicine and genetics at the University of Pennsylvania's Perelman School of Medicine in Philadelphia.

The statement also outlines what a health care provider should consider before recommending a genetic test for a patient.

According to the AHA statement, cardiovascular conditions that may have an inherited genetic component include

  • Cardiomyopathies
  • Thoracic aortic aneurysms and dissections
  • Arrhythmias
  • Familial hypercholesterolemia

The statement also points out that the field of clinical genetics is changing quickly and there is still much to discover. “Genetic testing methods are evolving, and reliable classification of variants identified in genetic testing will remain a preeminent challenge for the practice of clinical genetics,” Musunuru said.