Rare Diagnosis, Unique Solution for Teen’s “Medical Mystery” Condition

Children’s Hospital Los Angeles doctors track down the source of
girl’s enlarged liver

LOS ANGELES–(BUSINESS WIRE)–“I was surprised because they always said it was the liver…”

When Blanca Ortega-Banuelos was born in Mexico in 2001, doctors there
noticed she had a liver significantly larger than normal. But they
couldn’t figure out why. They diagnosed her with everything from
cirrhosis to hepatitis. They performed liver biopsies and endoscopy
procedures to no avail. Blanca says they told her parents she probably
would not live past the age of 10.

But she continued to push on, and three years ago, Blanca and her family
moved to Los Angeles. Still, she was tired and listless, often left
short of breath performing the simplest tasks. She stayed away from any
strenuous activity.

In 2014, Blanca was referred to the Heart Institute at Children’s
Hospital Los Angeles by a gastroenterologist who suspected a possible
issue with her heart. This is where Blanca first met cardiologist Frank
Ing, chief of the Division of Cardiology at CHLA and co-director of the
Heart Institute.

Dr. Ing says echocardiograms and MRIs appeared to show nothing wrong
with Blanca’s heart, but when the referring doctor told him Blanca’s
liver was functioning normally despite its size, he decided to take a
closer look with a catheter and angiogram.

And that’s when they found their culprit – a membrane so thin it didn’t
show up on scans.

“Blanca was born with a rare congenital heart vessel defect, a complete
obstruction of the inferior vena cava (IVC) vein, a main supplier of
blood to the heart,” Ing explains. In Blanca’s case, the passageway
leading to her right aorta was completely blocked, causing blood to back
up into her liver. That’s what was mimicking symptoms of liver failure
and making Blanca’s life so miserable.

“This often gets missed,” Ing says. “This was complete blockage of a
major vein from the body to the heart and it was life-threatening.”

Blanca had survived because her body had naturally found, and in some
cases created, alternate vessels to get some blood back to her heart.
“It’s like a car blocking the road ahead, and the cars behind it move
around the obstruction and find other ways to reach their destination,”
Ing says.

The diagnosis – membranous atresia (obstruction) of the IVC – is very
rare in the U.S., and has mostly been reported in adults in Nepal, South
Africa, India, Japan, China and Korea. Left untreated, cases have led to
increased swelling of the liver, visibly bulging veins running up the
body, and in some cases hepatocellular carcinoma (liver cancer).
Successful treatment often required open heart surgery, but in Blanca’s
case, Dr. Ing and his team were able to repair the obstruction using a
less invasive interventional catheter approach – possibly the first time
this had been done in a child in the U.S. Entering through Blanca’s
thigh, Ing took a thin wire and ran it through the IVC, puncturing a
hole in the obstructive membrane. They then widened the opening with
progressively larger balloons and stents.

Within a few days, Blanca’s liver had already shrunk significantly.
After two more stent procedures a few months apart, Blanca’s liver is
now average size, and she can now participate in a slew of typical
activities impossible for her before, like running and softball.

Blanca, now 14, calls the surprising diagnosis and the resulting fix “a
miracle.”

CHLA can provide angiogram footage showing Blanca’s IVC before,
during and after Dr. Ing and his team opened the blockage. We also have
some video clips taken from a smartphone during one of Blanca’s
procedures at the Heart Institute. A CHLA-produced video of Blanca’s
story is available at https://www.youtube.com/watch?v=IjzVpj2gKOQ.
For more information, including interview requests, please contact CHLA
Senior Public Information Officer Owen Lei.

About Children’s Hospital Los Angeles

Children’s Hospital Los Angeles has been named the best children’s
hospital in California and among the top 10 in the nation for clinical
excellence with its selection to the prestigious U.S. News & World
Report Honor Roll. Children’s Hospital is home to The Saban Research
Institute, one of the largest and most productive pediatric research
facilities in the United States. Children’s Hospital is also one of
America’s premier teaching hospitals through its affiliation since 1932
with the Keck School of Medicine of the University of Southern
California.

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Contacts

Children’s Hospital Los Angeles
Owen Lei, 323-361-8433
olei@chla.usc.edu