Congenital heart disease genes found in children with autism and other conditions

Mutated genes present in many patients with congenital heart disease (CHD) are also often found in patients with autism and certain respiratory disorders, according to an extensive analysis of genes from 2,871 congenital heart disease patients and their families.

The research, published last month in the journal Nature Genetics, is the third major publication generated by the Pediatric Cardiac Genomics Consortium (PCGC), a group of 10 centers in the United States and London, including the University of Rochester Medical Center (URMC), that is aiming to identify genetic causes of CHD.

“It has long been apparent that there is a connection between the developing heart and brain — that patients who have challenges in one area often have challenges in the other — and now we have genetic proof,” said George A. Porter, M.D., Ph.D., associate professor of Pediatrics, Cardiology, at URMC, and an author of the paper.

The publication is the continuation of the PCGC’s research, which will soon enter its ninth year and has enrolled 11,333 patients; Porter and Eileen Taillie, the local study coordinator, have recruited 573 of those patients from URMC and associated pediatric cardiologists in Buffalo and Syracuse. The group conducts a range of genetic tests on selected groups of these patients, with the most significant results thus far coming from whole exome sequencing on over 3,000 patients with complex CHD and their families. The ongoing project represents the most robust genetic analysis ever performed on patients with CHD, which affects about 1 percent of babies.

“Clinically, this is the next step toward a more personalized approach for patients with CHD,” said Porter. “One possibility: you could potentially create a panel of genes to test in patients with CHD, and if you find one that also affects learning, for example, you could intervene earlier.”

The paper’s co-senior authors were Martina Brueckner, M.D., of the Yale School of Medicine, and Christine Seidman, M.D., of Harvard Medical School.

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The University of Rochester Medical Center is home to approximately 3,000 individuals who conduct research on everything from cancer and heart disease to Parkinson’s, pandemic influenza and autism. Spread across many centers, institutes and labs, our scientists have developed therapies that have improved human health locally, in the region and across the globe. To learn more, visit www.urmc.rochester.edu/research.