Congenital Heart Disease Shares Genes with Autism, Other Conditions


Whole-genome sequencing may better detect the risk of having an infant with congenital heart disease.

Due to advances in surgery, nearly all infants with congenital heart disease (CHD) live to their adult years. However, many patients experience a host of additional health problems, including neurodevelopmental issues, respiratory problems, and heart arrhythmias.

A new genome analysis published by Nature Genetics suggests that the genes that cause CHD are closely related to several conditions, including autism and respiratory diseases.

Although CHD affects only 1% of babies, the complexity of the disease’s biology has made it notoriously difficult to predict. This leaves many parents in the dark about their child’s health in the future and the risk of having another child with CHD.

“As a clinician, there’s nothing more devastating than when parents ask us about future risk for a child with CHD or for having another child, and we have to tell them, ‘we don’t know,’” said co-corresponding author Christine Seidman, MD. “The discoveries revealed through this work not only teach us about the fundamental biology through which the heart gets built, but also have important clinical implications: Detecting these mutations could help us alert patients and parents to risk of ongoing problems that can be addressed and managed, and define risk for a second child.”

Included in the analysis were genes from 2871 patients with CHD and their families, which allowed researchers to learn whether the mutations were inherited or spontaneous. The authors used a whole exome approach combined with a statistical analysis.

The investigators discovered that genes associated with autism also played a role in CHD, while also finding novel genes implicated in CHD, according to the study.

Additionally, the authors found that respiratory problems in patients with CHD were linked to defective cilia, which cover the surface of cells and have numerous biological functions, according to the authors.

One mutation resulted in Tetralogy of Fallot, while a mutation in the gene encoding myosin led to Shone syndrome, which affects the left side of the heart, according to the study.

Additionally, 5% of patients with severe CHD were of Ashkenazian descent. This finding could lead to better screening and risk assessment of these patients, according to the authors.

There were numerous mutations that were not inherited, including those that modify chromatin. These changes were observed mostly in patients with other birth defects and neurodevelopmental issues. These genes have also been linked to autism, according to the study.

These findings may help inform genetic testing for CHD, improve counseling for families regarding the risk of having another child with CHD, and could also further personalized therapy for these patients, the study concluded.

“It has been frustrating to see one patient recover nicely and another with the exact same heart defect struggle,” said researcher Martina Brueckner, MD. “This type of study helps us understand why and is a step toward personalized treatment.”

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