A report seeks answers about a mysterious and dangerous heart disease in children

After a pregnancy without incident, Amanda Blanchfield thought she gave birth to a healthy baby, a boy that she and her husband called Cash.

A slight heart murmur told the doctors that there was a problem. Echocardiography revealed cardiomyopathy, a disease of the heart muscle.

In Cash's case, an obstruction prevented the blood from circulating through his heart, forcing him to work harder and get fatter. A heart that should have been the size of a strawberry had on the contrary almost taken over his entire torso.

"It was the worst case (that his doctors) had ever seen, because his heart was incredibly thick," recalls Blanchfield.

In the two months following his birth, Cash was placed on a transplant list where he waited 51 days for a new heart.

Today, he is three years old and is in good health. But so much about the state of health that almost killed him remains a mystery. That's why a new report from the American Heart Association aims to raise children's awareness of the disease and encourage more research to find better treatments.

Although cardiomyopathy in children is rare, it can "lead to some of the worst results in pediatric cardiology", according to the scientific statement published Tuesday in the newspaper circulation.

Cardiomyopathy occurs when heart muscle cells are abnormally formed or adversely affected by other conditions, preventing the heart from effectively pumping blood. Nearly 40% of children born with cardiomyopathy resulting in heart failure or other symptoms undergo a heart transplant or die within the first two years of diagnosis. This disease is the main reason why children over 1 year of age undergo a heart transplant.

The statement is intended to help state "what do we know and where are the gaps," said Dr. Steven Lipshultz, who chaired the editorial board of the statement.

"Everyone wants guidelines for clinical practice, but this field has not yet done enough clinical trials to be able to say," There is convincing evidence that, if you see this, you have to use this medication, or you should treat it that way, "said Lipshultz, chair of the pediatrics department at the Jacobs School of Medicine and Biomedical Sciences at the University of Buffalo in New York.

Pediatric cardiomyopathy occurs in about 1 in 100,000 children, which is about the same incidence of some childhood cancers, such as lymphoma and neuroblastoma. But there is much less research on the disease and little improvement in treatment: the percentage of children who undergo heart transplantation because of cardiomyopathy has not decreased during of the last decade.

The cause of the disease is often unknown, although genetic causes are "likely to be present" in most cases.

Cardiomyopathies can be grouped into four categories. Lisa Yue's husband was diagnosed as a teenager with a type called hypertrophic cardiomyopathy, but his case was considered benign. Yet, it was enough for Yue to be worried about the illness for his son's son Bryan.

"The idea at the time was that cardiomyopathy would not manifest in young children," Yue said.

One month after consulting the pediatrician, Bryan's undiagnosed hypertrophic cardiomyopathy resulted in fatal cardiac arrest. He died in 1999 at the age of 11 months.

A year later, the couple welcomed a second son, Kevin, who was diagnosed with cardiomyopathy.

"I remember the head of pediatric cardiology told us," We do not know enough about this disease to treat it effectively, "Yue said.

Kevin died in 2001 while waiting for a heart transplant. He was 9 months old.

The limited information available at the time led Yue and her husband to create the non-profit children's cardiomyopathy foundation to advance research and increase education. Yue said she hoped the AHA's scientific statement "would help doctors better understand this potentially life-threatening heart disease so that more lives can be saved."

Lipshultz said he hoped that further research would eventually lead to identifying the causes of cardiomyopathy so that children could be treated more specifically.

"(This state) can cause incredible pain and suffering for children and their families, and can be very costly for society," he said. "Over time, research leads to better quantifiable results, but we still have a long way to go if we really want to protect and preserve the next generation."

The American Heart Association News covers the health of the heart and brain. All opinions expressed in this story do not reflect the official position of the American Heart Association. Copyright is the property of the American Heart Association, Inc., and all rights are reserved. If you have any questions or comments about this story, please send an email to [email protected].