Many youngsters with cardiomyopathy have a genetic mutation however few are screened

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Many children with cardiomyopathy have a genetic mutation but few are screened

Lipshultz is the lead author of the study of genetic screening for pediatric cardiomyopathy. It shows strong evidence of routine genetic screening in children with this disease, and shows that there is wide variation in the amount of screening that is done at different centers. Photo credit: Douglas Levere / University of Buffalo

A national study of genes in pediatric cardiomyopathy conducted by the University of Buffalo shows strong evidence for routine genetic screening in children with the disease. The study, published April 28 in the Journal of the American Heart Association, found large differences in screening, with some centers performing routine genetic testing and others not.

The National Institutes of Health's 14-center study of 152 children with cardiomyopathy found that only half underwent genetic screening. Of those who had not undergone screening, 21% were found to have a genetic cause for the disease after being subjected to genetic testing as part of the research study.

"Even in families with no family history of cardiomyopathy, we've found that many children with cardiomyopathy have a genetic cause that we can identify," said Dr. Steven E. Lipshultz, lead author and lead researcher on the study; and A. Conger Goodyear Professor and Chair of Pediatrics at the UB's Jacobs School of Medicine and Biomedical Sciences.

The paper's first author is Stephanie M. Ware, MD, Ph.D., of the Indiana University School of Medicine.

The results of the study are critical to the treatment and potential cure of this rare, sometimes fatal, pediatric disease. "We assumed that many of the life-threatening cardiomyopathies in children were due to genetic mutations," said Lipshultz. "This research confirms that belief. If we know the cause, we can more effectively treat, and in some cases cure, these children with therapies that target the specific mutation that is causing their disease."

Screening can save lives

Genetic screening could provide important, life-saving information to families, Lipshultz said.

"Because some mutations have rapidly progressive fatal consequences, children with these mutations could be identified through genetic screening and prioritized for life-saving heart transplants," he said.

Information about which mutation may be involved in a patient's disease can also make a significant difference in the type of treatment prescribed and in outcome. Lipshultz noted that he and his colleagues have published research showing that children whose cardiomyopathy is due to certain mutations that lead to heart failure worsen and even die when treated with therapies commonly prescribed for heart failure become.

"This is because these therapies make the child's genetically compromised mitochondria work harder," said Lipshultz. "This can tragically hasten the deaths of these children. However, knowing that these types of mutations are present, alternative therapies can be used that preserve and protect mitochondrial function. This is one of many examples of the genetic cause of cardiomyopathy known could mean the difference between a child's life and death. "

The study also identified new gene mutations associated with cardiomyopathy.

children
Photo credit: Pixabay / CC0 Public Domain

Genetic screening is very different

Although the study was conducted in large children's hospitals with well-established cardiomyopathy programs, only a few of them used genetic screening as a routine part of clinical care. At the national level, a minority of children and their families with cardiomyopathy have the option to undergo genetic screening. Lipshultz and his co-authors hope this study will change.

UB, for example, is one of only 40 cardiomyopathy centers worldwide that have been critically and rigorously reviewed by the Foundation for Cardiomyopathy for Children and certified as a Recognized Center for Cardiomyopathy to provide high quality heart care and specialized disease management to children with cardiomyopathy. (This study was also funded by the Children's Cardiomyopathy Foundation.) At UB and the John R. Oishei Children's Hospital, federal and private resources provide additional funding for more research and clinical care in pediatric cardiac clinical genetics as well of genetics ready advice.

Lipshultz added that unfortunately, most children with the disease are not cared for in these specialized centers.

"One hurdle is having cardiologists and geneticists interested in ordering these genetic tests and then advising families on the results," he said. "Testing for the most common gene mutations associated with cardiomyopathy can be done virtually anywhere, as laboratory companies provide kits for patient samples collected."

The study supports existing clinical guidelines for pediatric cardiomyopathy, but Lipshultz indicated that these are not widely used. "Our results show that with routine clinical evaluation, a high percentage of children with genetic causes for their cardiomyopathy are missing," he said, adding, "If you aren't looking, you don't know."

The results also provide additional evidence for cardiac surveillance, which examines all immediate family members of a child with cardiomyopathy and an associated gene mutation to see if they too have the same mutation and cardiomyopathy.

At a time when gene-specific targeted therapies are increasingly becoming possible that can optimize care and planning, the failure to genetically examine these patients is beyond defense, Lipshultz said.

Exome sequencing

In the study, researchers performed full exome sequencing in large numbers of children with cardiomyopathy. Sequencing the entire exome is a much broader way to identify gene mutations than just looking for the six or eight most common mutations known to be associated with cardiomyopathy, Lipshultz explained.

"By sequencing the entire exome, a much wider range of pathological mutations can be identified and new new mutations that may be associated with cardiomyopathy can be identified," he said.

What is known – and not known about – heart muscle disease in children?

More information:
American Heart Association Journal (2021). DOI: 10.1161 / JAHA.120.017731

Provided by
University in Buffalo

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