Amanda Allen learned about disappointment early in life.

At the age of 12, the aspiring athlete was diagnosed with a congenital heart disease known as congenitally corrected transposition of the great arteries, or CCTGA. Her condition was detected during a routine physical exam.

Not only would she have to sit the year out — she would never be able to play sports again. Her hopes for a college basketball scholarship were ended almost before they began.

CCTGA is one of many types of congenital heart disease. With CCTGA, the left and right ventricles of the heart are reversed during fetal development. The heart twists abnormally and the stronger left ventricle, which typically pumps blood to the entire body, instead pumps blood to the lungs. The weaker right ventricle, in turn, takes on the more difficult task of pumping blood to the entire body instead of to the lungs.

Even though the heart is able to function with the abnormal development, the condition remains very serious as those diagnosed with CCTGA are more likely to experience other health issues, including:

• A leaky valve
• A ventricular septal defect - an opening in the dividing wall between the heart’s two lower chambers
• Narrowing of the main artery to the lungs
• The need for a pacemaker due to a blockage in the heart’s electrical system

While infants may be diagnosed with the condition at birth, some, like Allen, are diagnosed incidentally, with no symptoms as children or young adults. Often, symptoms develop later in life, with the diagnosis typically made via echocardiogram or cardiac MRI.  

No warning of heart disease

Allen’s parents had no indication their child was born with congenital heart disease until that routine exam revealed the unexpected diagnosis, which also included a leaky tricuspid valve.

Over the next 10 years, Allen heeded her local doctors’ advice: “Don't do anything that pushes you physically,’” she recalled them telling her. “I did relatively well and was being followed on a regular basis. It was kind of a wait and see situation.”

Adding insult to injury, Allen also discovered she would be putting her health at risk with a future pregnancy.

“It’s relatively common with this particular heart problem for patients to get into trouble with pregnancy,” said Timothy Cotts, M.D., a U-M Health cardiologist and nationally renowned expert in CCTGA.

“Some patients will get better once the baby is delivered. But one of the risks for many patients is continued decreased heart function and development of heart failure after a pregnancy,” said Cotts.

Facing the risk

Aware of the risk, her desire for children grew, says Allen, who was living in Ohio at the time.

“I asked my doctors about getting pregnant. They told me it would be risky and that I would need to be followed by the right team of specialists.”

Allen describes her first pregnancy in 2001 at age 24 as “wonderful,” noting that she had “zero issues.”

But three years later, and pregnant with her daughter, things didn’t go as smoothly. Now living in Michigan, Allen experienced frightening symptoms.

“I couldn't sleep. I couldn't walk from my couch to the bathroom without being out of breath. I knew something was very wrong.”

Allen’s obstetrician attributed her symptoms to those of a normal pregnancy. But when symptoms continued to worsen, Allen insisted on having a chest X-ray, which revealed excessive fluid in her lungs, leadingto a diagnosis of pneumonia.

Despite her condition, she gave birth to a healthy daughter via cesarean delivery, but her own health was in jeopardy as the pneumonia turned out to be the wrong diagnosis. Hospitalized and now on a ventilator with blood collecting in her lungs, Allen’s condition was deteriorating.

Her doctors, at the time, didn’t realize she was in heart failure.

Finally, hope

Days of uncertain and her family’s fear for the young mother’s life prompted a consultation with a team from University of Michigan Health and the decision to transport Allen via survival flight to Ann Arbor.

Allen’s family immediately felt she was safer at U-M Health.

“There was a roomful of doctors and they were all aware of what was going on. They told my family, ‘It doesn't look good right now. However, here’s what we’re going to do.’ And they were all working together. My family finally felt like there might be hope.”

Struggling to survive, Allen was immediately evaluated for a heart transplant, says U-M Health cardiologist David Dyke, M.D., who would oversee her care over the next two decades.

We can quickly make a determination of the need for a tricuspid valve replacement because if you wait too long, the outcomes can be much worse.”

- Timothy Cotts, M.D.

“With the patient’s background of congenital heart disease and severe heart failure, we brought her to U-M for an urgent transplant evaluation,” said Dyke. “But she actually did reasonably well in the intensive care unit and with close monitoring and certain types of intravenous medications, we were able to slowly get her out of heart failure.”

Using a Swan-Ganz catheter, a thin tube that passes through the heart and into the lungs, doctors were able to monitor Allen’s heart function and blood flow, says Dyke, adding that aggressive therapy was used to treat her failing liver. 

“The doctors told my family, ‘Either her organs are going to shut down little by little or this is going to work. She is healthy, and that's a good thing,’” said Allen.

Each day, Allen’s family would notice another improvement, she says.“I was hooked up to so many things — including a central line in my neck, an arterial line in my wrist, a feeding tube and a breathing tube. But little by little, the medication was working.”

“Ultimately, she turned the corner and we were able to deescalate therapy. Fortunately, she was young and healthy enough that we didn’t have to go the route of the transplant,” said Dyke.

Allen found she was able to sit up in bed, something she hadn’t done in weeks. Best of all, she was finally able to go home to be with her children and eventually return to work at General Motors as a plant supervisor.

But, she recalled, “I still faced the issue of my leaky valve. Because of my pregnancy and fluid overload, my heart had to work so hard that the valve was leaking at a much higher rate.”

In April 2004 Allen underwent a successful open heart surgery to replace her tricuspid valve with a tissue valve.

“One of the principles of management of these patients is to be proactive about replacing the tricuspid valve if it’s not functioning well,” said Cotts. “This made a big difference for the patient and most likely helped to preserve her ventricular function.

Much to her surprise, Allen was also given the OK to finally exercise.

“Dr. Dyke told me I could run — not a marathon but I could run and exercise. It was the first time really since I was 12.”

One more challenge

Eight years later and surprised with a third pregnancy, Allen’s first instinct was to consult with Dyke, who advised her of the risks, but gave her hope for a successful pregnancy.

“He told me I needed to be seen by the U-M team every week during much of my pregnancy and would have to be admitted a few weeks prior to my due date.”

The multidisciplinary team at U-M Health collaborated with other specialties — including high-risk obstetrics, heart failure, cardiac surgery and genetics — to ensure Allen’s comprehensive care.

“We have a team-based approach and patients like Ms. Allen are often followed by our congenital heart team and our advanced heart failure team,” said Cotts. “Then, as necessary, we bring in the expertise of other specialties for the management of these patients."

During her pregnancy, however, Allen developed endocarditis, an infection of the heart, which was causing her tissue valve to deteriorate.

“This is a known complication for patients who have undergone valve replacements,” noted Cotts.

Allen underwent another successful open heart surgery to replace her tissue valve with a mechanical valve after the birth of her third child.

Today’s treatment options

“Today, an infant or child diagnosed with congenitally corrected transposition of the great arteries might be considered for a complex surgery so that the left ventricle pumps to the entire body and the right ventricle pumps to the lungs,” said Cotts. “Certain patients really benefit from this surgery known as a double switch procedure.”

But some patients, like Allen, do well without the procedure, he says, noting that it was not available when she was diagnosed as a child.

“Early involvement with adult congenital experts for this condition is key,” said Cotts, whose CCTGA patient volume is among the highest in the country. “We can quickly make a determination of the need for a tricuspid valve replacement because if you wait too long, the outcomes can be much worse. You want to get to these patients before there is any decline in cardiac function.”

Allen’s tricuspid valve replacement at U-M Health has positively impacted her long-term outcome, says Cotts, who added: “Continued expert congenital cardiac care over the course of her life is critical.”

The young mother’s dedication to adopting healthy habits also plays a big role, he says, noting that she stays fit and has an active lifestyle. “Her exercise capacity is higher than expected, which has enabled her to do much better in the long run.”

A determined Allen wouldn’t have it any other way. “I work out and I keep myself healthy. I get my heart rate up but I don't push it. I just do enough to keep myself healthy without trying to win a marathon.

“There's no cure for my CCTGA, but I feel awesome,” Allen said. “I can work out, I work full time and I’ve got my kids” — now totaling six, thanks to her blended family

“Life is great. I feel great.”