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The gel stain looks like the ghost of a bar graph, an array of translucent purple blocks conjured on clear contact paper in distorted, mirage-like lines. The blocks are samples of proteins that were taken out of heart tissues, some healthy, some diseased.
Each block tells Children’s Hospital Colorado’s Kathryn Chatfield, MD, who is one of only a handful of triple-board-certified pediatric cardiac geneticists in the nation, something about what’s going on in the heart’s cells.
“These proteins are supposed to stick together,” she says, tapping a sallow block with her pen, “but they’re falling apart.”
The job of those proteins, and hundreds of mitochondrial heart proteins like them, is to convert fatty acids and oxygen into energy — a critical job in the heart. “The heart needs to be on 24/7,” Dr. Chatfield notes. “It cannot take a break.”
Hearts fail in adults, in general, as they wear and age. Heart disease in children tends to be congenital, and it tends to be rare. Dr. Chatfield studies a set of congenital heart diseases that stem from genetic failures to build proteins correctly, resulting in slackened and dilated heart muscle that can’t adequately contract.
“We’re trying to find a molecular glue to stick these proteins together,” says Dr. Chatfield, “so they can do their job more effectively.”
Dr. Chatfield is honing in on a drug that may do just that in some kids. But the potential variation of protein abnormalities is basically endless, and it’s a frontier scientists like Dr. Chatfield are just beginning to explore. Pediatric heart failure is not well understood. Dr. Chatfield’s work — studying the nuanced molecular differences of the heart between boys and girls, children and adults — narrows a prodigious research gap.
“Any advance makes a big difference when 30 to 50 percent of these kids are going to need a transplant,” Dr. Chatfield says. “There’s a lot of room for improvement.”
Children who undergo the Fontan procedure often outgrow the materials used in reconstructive surgeries. But regenerative medicine may change that.