Study identifies 60 genes linked to congenital heart disease

A new study has identified 60 genes associated with congenital heart disease (CHD), one of the most common birth defects. Researchers examined over 11,000 children with CHD and found these genes were mutated more often than expected. This study is part of a larger effort to understand the genetics of CHD. Published in the Proceedings of the National Academy of Sciences, the research reveals that more than half of the identified genes are connected to specific heart defects. Some mutations may also lead to other disorders, such as autism. The mutations can arise spontaneously or be inherited from parents who usually do not show symptoms of CHD. Richard Lifton, the study's senior author, highlighted that these findings could help doctors in screening for CHD and related genetic issues. The results show that about 60% of the genetic indicators for CHD come from the identified genes. Interestingly, about 5% arise from inherited mutations, while recessive mutations contribute to only 2% of cases. The study also pointed out that nearly half the genetic factors came from parents, suggesting additional genetic or environmental influences may play a role in CHD. The researchers noted that most mutations occurred in genes linked to either single types of heart defects or a wider range of heart issues. For instance, mutations in the NOTCH1 gene were found to be strongly linked to specific heart conditions. Additionally, 37 of the genes identified may also indicate a risk for neurodevelopmental disorders, including autism. This discovery could help in developing early intervention strategies for young children diagnosed with CHD. The findings suggest that routine genetic testing could lead to earlier diagnosis and better treatment for both heart conditions and any associated disorders. Lifton emphasized that the decreasing cost of DNA sequencing makes it easier to include genetic testing in the care of children with CHD, potentially leading to improved outcomes.