NEW HAVEN — While doctors can treat almost all of the one in 100 babies born with congenital heart disease, they hope to use genetic testing to find out what other medical problems those patients will suffer.
The connections between congenital heart disease and other serious medical problems are beginning to be discovered, according to a new study involving Yale University.
Those born with heart disease are more likely to develop neurodevelopmental issues, such as learning disabilities, autism or other intellectual disabilities, according to Martina Brueckner, professor of pediatrics and genetics at the Yale School of Medicine and one of the researchers. Other issues include respiratory problems that can lead to pneumonia and heart arrhythmias.
Those born with mild heart disease are 10 percent more likely to develop seemingly unrelated problems, while those with severe heart disease are 50 percent more likely to do so, Brueckner said Monday. “The most severe end of that spectrum is people who can’t do normal adult daily life,” she said.
A study published Monday in the journal Nature Genetics was the result of genetic analysis of 2,871 patients of all ages who were born with congenital heart disease. A total of 11,000 people have taken part in the study, part of the Pediatric Cardiac Genomics Consortium.
“Ninety percent of people with congenital heart disease now survive to be adults, which is a giant step forward for us,” Brueckner said. But many “have a lot of other problems, and it’s very puzzling as to why, especially as to the patients whose heart disease has pretty much been taken care of.
“What we would like to identify is those patients with congenital heart disease who are at a higher risk for things like autism,” Brueckner said. “Then we can refer them to the right people so they get the best long-term outcome. The earlier we intervene, the better they do.” Immunizations in young children, preschool interventions and “different ways of taking care of them around the time of their heart surgery” are among the ways patients can be treated, she said.
Among the study’s findings are that genes linked to autism were also associated with congenital heart disease and that some patients’ respiratory ailments are linked to hairlike structures on the surface of cells, according to a press release.
Nine centers in the United States and University College, London, are involved in the research project. The patients’ and their families’ genes were sequenced by the Yale Center for Genome Analysis at West Campus in West Haven.
Genetic testing can lead to “better holistic care,” Brueckner said. “Take care of the whole patient, not just the heart, and then take care of the whole family.”
Contact Ed Stannard at firstname.lastname@example.org or 203-680-9382.