Routine Cardiac Genetic Testing May Impact Patient Outcomes, Survival

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Routine Cardiac Genetic Testing

New Study: Many Children with cardiomyopathy have a genetic mutation but few are screened.

According to, Cardiomyopathy refers to diseases of the heart muscle. These diseases have many causes, signs and symptoms as well as treatments. In most cases, cardiomyopathy causes the heart muscle to become enlarged, thick or rigid. In rare instances, diseased heart muscle tissue is replaced with scar tissue. As cardiomyopathy worsens, the heart becomes weaker. The heart becomes less able to pump blood throughout the body and incapable of maintaining a normal electrical rhythm. The result can be heart failure or irregular heartbeats called arrhythmias. A weakened heart also can cause other complications, such as heart valve problems.

The new study has shed light on Cardiomyopathy in children specifically, overall it found that genetic screening for all children with Cardiomyopathy could make a powerful difference in outcomes and even survival.

The study, led by the University of Buffalo focused on genes in pediatric Cardiomyopathy and demonstrated strong evidence for routine genetic testing in children diagnosed with Cardiomyopathy. The study was published in the journal of the American Heart Association on April, 28th 2021. Furthermore, the study revealed wide variations in screening or genetic testing, with some centers conducting routine genetic screens and others conducting none.

The initial research was conducting at 14 centers, the National Institutes of Health funded study of 152 children with Cardiomyopathy found that only half (50%)  had undergone genetic screening for the genetic variants associated with Cardiomyopathy. Of those that had not undergone genetic testing, 21% were found to have a genetic cause for the disease after receiving a genetic screen as part of the study.

“Even in families without a family history of cardiomyopathy, we found that many children with cardiomyopathy have a genetic cause that we can establish,” said Steven E. Lipshultz, MD, the study’s senior author and principal investigator and A. Conger Goodyear Professor and Chair of the Department of Pediatrics in the Jacobs School of Medicine and Biomedical Sciences at UB. A co-author of the paper, Stephanie M. Ware, MD, PhD, of the Indiana University School of Medicine, said The study’s findings are of critical significance for treating and potentially curing this rare, sometimes fatal, pediatric disease. “We had assumed that many of the life-threatening cardiomyopathies in children resulted from genetic mutations,” explained Lipshultz. “This research confirms that assumption. When we know the cause, we can more effectively treat, and in some cases even cure, these children with therapies targeted to the specific mutation causing their disease.” The study also found novel gene mutations associated with Cardiomyopathy.

Genetic Testing Can Save Lives

Genetic screening could provide critical, lifesaving information to families, Lipshultz said. “Since some mutations are associated with rapidly progressive fatal outcomes, genetic screening could allow children with these mutations to be identified and prioritized for a lifesaving cardiac transplant,” he said. Lipshultz went on to comment further on why genetic testing is critical for children with Cardiomyopathy, “This is because those therapies push the child’s genetically impaired mitochondria to work harder,” said Lipshultz. “This, tragically, can hasten the demise of these children. But by knowing that these types of mutations are present, alternative therapies that preserve and protect mitochondrial function can be employed. This is one of many examples where knowing the genetic cause of cardiomyopathy could make the difference between the life or death of a child.”

Genetic screening varies widely

As mentioned previously, the study found that within the reviewed centers, some leveraged genetic testing routinely while others conducted none. Diving deeper into the study, it found that even though it was conducted at major children’s hospitals with well-established Cardiomyopathy programs, only some of the used genetic testing as a routine part of wholistic healthcare. Currently, in the United States, a minority of children and their families with Cardiomyopathy are provided the opportunity to undergo genetic testing, a fact that Lipshultz and his co-authors hope this study will begin to change.

“One hurdle is having cardiologists and geneticists interested in ordering these genetic tests and then counseling the families about the results,” he said. “The testing for the most common gene mutations associated with cardiomyopathy can be done pretty much anywhere, since laboratory companies provide the kits for collected patient samples.” The study supports existing clinical guidelines for pediatric cardiomyopathy, but, Lipshultz pointed out, these are not widely followed. “Our results show that with routine clinical judgment, a high percentage of children with genetic causes for their cardiomyopathy are missed,” he said, adding, “If you don’t look, you don’t know.”

“At a time when gene-specific targeted therapies are increasingly possible, which can optimize care and planning, the failure to genetically screen these patients is no longer defensible, Lipshultz said.

What does the mean for you?

Vita Medical Solutions offers cardiovascular genetic testing. Mutations associated with inherited cardiovascular diseases and sudden cardiac death can be detected through cardiac genetic testing. This type of testing presents an in-depth look at an individual’s increased risk for various cardiac conditions such as:

  • Heart Disease
  • Cardiomyopathy
  • Arrhythmia
  • Atherosclerosis
  • Hypercholesterolemia

Don’t let the first sign be a heart attack or stroke.

Vita Medical Solutions can work directly with your Primary Care Physician. With qualifying insurance, this test can cost you nothing out of pocket. To schedule a call with one of Vita Medical’s Patient Service Consultants – Click Here.

Call us 1.800.590.9292 (toll free) or email at [email protected].

Test. Know. Educate. Advocate.

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