Pediatric cardiomyopathy: A rare medical condition

A diagnosis of pediatric cardiomyopathy can be devastating for children and their families.

“There is this sense of doom that some of the kids have,” said Dr. Steven Colan, a cardiologist at Boston Children’s Hospital.

Cardiomyopathy is a genetic or acquired disease that affects the heart muscle and may result in an impaired ability to pump blood and, in some cases, progressive heart failure and sudden cardiac death.

The disease has three common types that each vary with symptoms and treatment and include dilated, hypertrophy and restrictive cardiomyopathy. About 1 in 100,000 children get the condition.

Colan said about a third of infants recover, a third get a chronic form of the disease and have decreased heart function and another third require a heart transplant.

“Outcomes for transplantation are actually very good in children and those patients basically return to a fairly normal life,” said Colan, though many will require a second transplant as they age.

Finding a donor heart can take months or years, said Colan. “You can really only use the heart from an infant, so it’s bad news for two families, that’s the real dilemma of this whole situation.”

If the disease is not inherited, it can be acquired through the inflammation of the heart muscle, or exposure to certain toxins, bacteria or viruses. Patients with cardiomyopathy can experience decreased exercise toleration, shortness of breath, fluid retention, arrhythmia or a heart murmur.

Lisa Yue founded Children’s Cardiomyopathy, an advocacy group, after losing two of her children to the devastating condition.

“My first child died undiagnosed from cardiac arrest and my second child died — he was on the heart transplant list,” Yue said. Many children don’t present symptoms until it’s too late.

“There isn’t formal screening right now so what we can do is try to increase awareness and educate families and pediatricians,” Yue said.