Researchers uncover new genes linked to congenital heart disease

One in every 100 babies is born with congenital heart disease, which is the leading cause of death from birth defects in infants.
By Amy Wallace  |  Oct. 9, 2017 at 5:42 PM
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Oct. 9 (UPI) -- Researchers at Brigham and Women's Hospital have discovered new genes associated with congenital heart disease in babies.

The study, published today in Nature Genetics, identified several genetic mutations linked to congenital heart disease, or CHD.

CHD is the leading cause of death from birth defects with one in every 100 babies born having CHD. Surgical advancements and care have improved the outcomes of babies born with CHD, although patients still are at elevated risk for heart complications later in life, other congenital abnormalities and neurodevelopmental deficits.

Research from the National Heart, Lung and Blood Institute, Pediatric Cardiac Genomics Consortium, and the Bench to Bassinet Program has uncovered genetic mutations that may be part of the underlying cause of 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,'" Dr. Christine Seidman, director of the BWH Cardiovascular Genetics Center and Howard Hughes Medical Institute investigator, said in a press release.

"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."

Researchers from seven academic centers throughout the United States analyzed clinical and genetic data from more than 2,800 patients with CHD along with information from parents.

The study identified mutations in the FLT4 gene that led to Tetralogy of Fallot, a complex malformation that presents with cyanosis or blue baby syndrome. Researchers also found that mutations in the gene encoding myosin, a contractile protein highly expressed during development accounted for 11 percent of Shone syndrome, which affects four regions of the left side of the heart.

Additionally, a shared mutation in some CHD patients with Ashkenazian ancestry, the identical mutation in both gene copies of GDF1 made up 5 percent of severe CHD among children of Ashkenazian descent.

Researchers also found de novo mutations in many genes, especially those that modify chromatin, and that these mutations often occurred in children with CHD who had other congenital defects or neurodevelopmental issues. The same genes were previously linked to autism.

"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," Seidman said.

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