IE boy celebrates 5th birthday, years after doctors found hereditary heart defect

LOS ANGELES (KABC) -- An Ontario boy and his family have a lot to celebrate on his 5th birthday. When Elias Soto was born, doctors discovered a hereditary heart defect that his father had no idea he had. Doctors are calling it a ticking time bomb.

Shortly after Elias' birth, doctors heard a heart murmur that revealed a shocking diagnosis, not only for him but for his dad, Rafael Soto.

"If it wasn't for him being born, I would have never found out I had this heart condition," Soto said.

The condition is called hypertrophic cardiomyopathy or HCM. It's the number one cause of sudden cardiac death in people under the age of 35.

"This is something You might hear about in the news where someone is playing a basketball game or a football game and falls over suddenly," said Dr. Jennifer Su, Co-Director of the Cardiogenomics Program at CHLA'S Heart Institute.

She says HCM is an inherited genetic condition that causes the heart wall to thicken abnormally.

"There is no way to stop the condition from getting worse but there are ways medically, treating with different medicines to help lower the likelihood that a rhythm problem can occur," she said.

A thickened heart muscle can cause shortness of breath and chest pain, but for some people, the first symptom could be sudden death.

"I've had doctors tell me to my face that we don't understand how you lived this long with the condition," said Soto.

Soto was an athlete in high school. Soon, he'll get an external defibrillator.

Children have a 50/50 chance of inheriting HCM from a parent. Once someone is diagnosed, it's important for all first-degree family members to get screened. Elias' older sister was next to get tested.

"Through the ultrasound, they told us she had it. And it was just devastating," said Cecilia Galeana.

The youngest sibling would also test positive, but the condition in both sisters is less severe. Although it can be scary, Galeana said knowing they have the condition gives them power. Her and Soto's wish for all their kids is to live full, happy lives.

"Don't hold back from your dreams and anything that you want to do. Just live every day until it's like your last," Galeana said.