Genetic testing to identify cardiomyopathy in children

A new study has found that genetic testing can diagnose cardiomyopathy – a disease of the heart muscle – in children and help discover who will develop heart failure and need a transplant.

Researchers at Murdoch Children’s Research Institute and the Centennial Institute showed that genetic testing for cardiomyopathy in children and their first-degree relatives (a parent or sibling), provides an accurate clinical diagnosis that can guide treatment options.

The results are published in the journal Circulation: genomic and precision medicineEvaluation of the genetic causes of cardiomyopathy in infants and children. A disease involving weak heart muscle, cardiomyopathy makes it difficult for the heart to pump blood effectively throughout the body. Children with cardiomyopathy are more likely than adults to develop life-threatening arrhythmias and acute heart failure and require a heart transplant.

Centennial Institute Dr. Richard BagnallCardiomyopathy, although rare in infants and children, often leads to major health problems and death, said the head of the Laboratory of Bioinformatics and Molecular Genetics.

Genetic testing allows us to look for changes (mutations) in genes known to cause cardiomyopathy. We wanted to better understand this disease in children.

In the study, 221 Melbourne and Sydney children aged 18 or younger with cardiomyopathy were recruited from pediatric cardiology services or genetic cardiology clinics. Where possible, family members were also genetically tested. About a third of the participants developed cardiomyopathy at the age of less than a year and about a third had a heart transplant.

In addition to the genetic basis, Dr. Bagnall said the research team wanted to find out why some infants and children develop heart failure and need a transplant, while their parents and siblings don’t.

In their analysis, the researchers were able to trace known genetic mutations to 50 percent of the childhood cardiomyopathy cases investigated.

“We demonstrated that pediatric cardiomyopathy often has a known underlying genetic basis,” said Dr. Bagnall.

“When a child needs a transplant, but family members don’t, we often find that the disease-causing gene mutation was not found in their parents or that the child had two separate variants – one from each parent.”

The research also revealed variants in the genes that cause multiorgan syndrome diseases, which had not been clinically diagnosed before because the characteristic features were not yet fully developed in children.

Murdoch for kids Professor Robert Weintraub He said understanding the cause of these dangerous and sometimes life-changing conditions was important to patients and their families.

“Knowing that a genetic mutation is the cause of their child’s condition can provide answers to questions that are not otherwise resolved,” he said. In addition to the scientific knowledge gained about mutations that cause myocardial disease at different ages, unaffected children of the same family who do not have the gene change, no longer need constant monitoring.”

“Children who have the mutation may not develop the condition but need close follow-up. However, there is still much to learn, especially in those families in which a genetic mutation has not been found.

Dr. Bagnall said the results showed that genetic diagnosis of childhood cardiomyopathy has important clinical benefits that lead to more accurate and faster diagnosis and identification of recessive and other genetic variants.

“Genetic testing can often mean a more accurate diagnosis that can guide treatment approaches, aid diagnosis and help better identify other family members who may also be at risk for disease,” he said.

Publications: Richard de Bagnall, Emma S. Singer, Julie Walker, Natalie Nowak, Judy Engels, Ingrid King, Evan Makioka, Joshua Crowe, Ann Ronan, Robert J. Weintraub and Christopher Simmerian. “The genetic basis of pediatric cardiomyopathy,” Circulation: Genetic and Precision Medicine. DOI: 10.1161 / CIRCGEN.121.003686

Researchers from the University of Sydney, Royal Children’s Hospital, Royal Prince Alfred Hospital, Garvan Institute for Medical Research, University of New South Wales, University of Melbourne, Victorian Clinical Genetics Services and Newcastle University also contributed to the research.

*The content of this communication is the sole responsibility of Murdoch Children and does not reflect the views of NHMRC.

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