Rare heart diseases in children // Drug Repurposing

Rare heart diseases in children

Twenty-month old Luke Reaves pushed a pig-shaped wooden toy off his hospital bed, then waited to hear the “smack” as it hit the hard floor below.

“Dah, ” his voice sounded pointing down. His mother, Emily Reaves, chuckled as he dropped more wooden animal shapes. She’s thankful now to be able to share these moments with him following his heart transplant.

Luke was diagnosed a year ago with cardiomyopathy (a weakened heart muscle) caused by a rare hereditary metabolic disorder, Barth syndrome.

With only about 200 reported cases of Barth worldwide, finding a hospital that understood a metabolic heart condition like Luke’s was important for Emily and Jason Reaves, even if it meant traveling outside Alabama. They learned that Monroe Carell Jr. Children’s Hospital at Vanderbilt cardiologists had expertise to treat children with these conditions, including Barth.

“Most pediatric institutions have someone in genetics who can make the proper diagnosis in these children. However, these children often present first to cardiology, ” said Vernat Exil, M.D., a pediatric cardiologist at Children’s Hospital. “Many pediatric heart institutes do not have pediatric cardiologists with the expertise. So, because Barth is a rare disease, it is possible to miss the diagnosis, as it is not often seen.”

Luke was a happy, healthy, thriving infant his first six months, weighing nearly 20 pounds. Emily Reaves raised concerns at his 6-month checkup that he wasn’t rolling. His pediatrician thought maybe Luke’s chubbiness was a lot to roll.

But at 8 months old, Luke wasn’t nursing well and was fussy. After a day of few wet diapers, he saw his pediatrician for a possible infection and dehydration.

“He listened to his heart and it was in a gallop. There I was sitting in the doctor’s office with a 20 ½ pound 8-month-old, and he looked nothing but healthy. We got an X-ray at the pediatrician’s office that day. His heart was enlarged, ” said Emily Reaves.

Doctors in Alabama diagnosed Luke with dilated cardiomyopathy, an enlarged left ventricle and heart failure.

“You feel tricked that for the first six months you think you have a ‘normal’ child. You worry about him and what he is going to have to go up against, ” Emily Reaves said.

While the cause of cardiomyopathy is often unknown, doctors ran blood and urine tests. Luke’s unusually chubby cheeks set off red flags. Metabolic testing revealed Barth syndrome, a genetic, neuromuscular disorder passed from mothers, who are carriers, to sons. Characteristics can include a cherubic face, neutropenia (lack of ability to fight infections), muscle weakness and growth delays.


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