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One in every 100 babies is born with congenital heart disease CHD, it is one of the leading cause of mortality from birth defects. Although advancements in surgery and care have improved rates of survival for these infants, CHD patients remain at elevated risk for heart complications, congenital abnormalities and neurodevelopmental deficits later in life.

Some genetic mutations are transmitted from parents to children: researchers identified mutations in FLT4 gene that consistently led to Tetralogy of Fallot, a complex malformation that often presents with cyanosis, or blue baby syndrome. The team found that mutations in the gene encoding myosin, a contractile protein that is highly expressed during development accounted for about 11 percent of Shone syndrome which affects four regions of the left-side of the heart.

The team also reports a shared mutation among some CHD patients with Ashkenazian ancestry. The identical mutation in both gene copies of GDF1 accounted for five percent of severe CHD among children of Ashkenazian descent could have direct clinical implications for assessing risk among people with this ancestry.

Some mutations appear for the first time in a child's genome: the team reports de novo mutations in many genes, but particularly in those that modify chromatin, a complex material that surrounds DNA and that undergoes dynamic changes during development.
These mutations occurred regularly in CHD children with other congenital defects and neurodevelopmental issues.

These same genes have been previously associated with autism, which may be responsible for high rates of neurocognitive issues in some children with CHD. These new findings could be used to expand current genetic testing panels for CHD, to improve both information for parents about the recurrence risks in future children, and the long-term care of the CHD infants.

As many as 400 genes contribute to CHD, sequencing a baby's whole genome may be a better approach than screening for specific mutations. Whole-genome sequencing may be the most effective way to detect genetic variants that cause birth defects and may effect a child's short- and long-term care.
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