Genetic testing can diagnose cardiomyopathy in children, study finds


Results from a recent study suggested that genetic testing for cardiomyopathy in children and their immediate family members can provide a precise clinical diagnosis that could help predict whether a child will have heart failure and require a transplant.

The study was published in the journal, Circulation Genomic and Precision Medicine, and led by Richard Bagnall, PhD, head of the Bioinformatics and Molecular Genetics Laboratory at Centenary Institute in Camperdown, Australia. According to the study, the causes of cardiomyopathy, a disease in the heart muscle, are lesser known in children. For this investigation, Bagnall and his team of researchers sought to better understand the causes of cardiomyopathy in children and whether genetic testing could be used as a diagnostic tool for the disease.

“Genetic testing allows us to look for variations in the genes known to cause cardiomyopathy,” Bagnall said in a statement. “We wanted to better understand this disease in children.”

Cardiomyopathy weakens the heart muscle, making it difficult for the heart to pump blood throughout the body. According to the study, children with cardiomyopathy are more likely to require a heart transplant because they have a higher risk of life-threatening arrhythmias and heart failure.

For the investigation, 221 Australian children aged 18 and under were recruited from pediatric cardiology services and genetic heart disease clinics. About a third of the participants developed cardiomyopathy at less than a year old. In addition, about a third of the patients received a heart transplant. Researchers conducted genetic testing on the patients as well as their family members when possible.

After analyzing the genetic testing, researchers found that 50 percent of the childhood cardiomyopathy cases could be attributed to know gene mutations. The data suggested that when a child required a heart transplant and their family members didn’t, the parents did not have the mutation that caused the disease in their child, or the child had two separate variants from each parent.

In addition, the research revealed variants in genes that cause multi-organ syndromic disease, which scientists were previously unable to diagnose in children as the characteristics of the disease don’t fully develop until adulthood.

“Knowing that a gene mutation is a cause of their child’s condition can provide answers to otherwise unresolved questions,” Bagnall said. “In addition to the scientific knowledge gained about which mutations cause heart muscle conditions at different ages, unaffected children from the same family who do not have the gene change, no longer require ongoing surveillance.”

According to Bagnall, the study’s results indicate that genetic testing can be used to help diagnose cardiomyopathy in children and help guide treatment options.

“Genetic testing can often mean a more accurate diagnosis that can guide therapeutic approaches, inform prognosis and help in better identifying other family members who may also be at risk of developing the disease,” he said.