With just 13 cases per every 1 million Americans, pulmonary arterial hypertension (PAH) is not a condition most providers will encounter. In addition, the symptoms associated with PAH — shortness of breath, fatigue, cough, heart palpitations, swelling in the feet — are nonspecific and can mirror the presentation of other maladies. As such, it takes time to diagnose, according to UVA pulmonologist Andrew D. Mihalek, MD.
“The standard time to diagnosis is around 1 to 2 years,” he says. “If someone in their 30s comes in with these symptoms, a doctor doesn’t immediately think of pulmonary arterial hypertension, and often will rule out other processes like asthma before backing into this diagnosis.”
For the patient highlighted in the case study below, the diagnosis came only after she learned about her pregnancy. “Ultimately, it was the pregnancy that unveiled her condition,” says Mihalek. “The hemodynamics, how blood flows through the body, changes significantly during pregnancy and so do a woman’s hormones, both of which can exacerbate symptoms of this type of pulmonary hypertension.”
Unfortunately, pregnancy is contraindicated for women with PAH because of the high risk of mortality, which can be as high as 30% to 50%. “Medically speaking, pregnancy is 100% recommended against in patients with pulmonary arterial hypertension,” says Mihalek. “However, this patient found out she had this condition after her pregnancy.”
As a result, the patient faced a heartbreaking choice, and her UVA team faced an ethical dilemma many care providers are forced to confront over the course of a career. Find out how they responded and learn more about the patient in the case study below.
Case Study: Pulmonary Arterial Hypertension
Patient: Hilary Oberhelman-Chavez, age 35, from Lynchburg, Virginia
Leading Care Team: pulmonologist Andrew D. Mihalek, MD, cardiologist Sula Mazimba, MD, and maternal-fetal medicine specialist, Robert Fuller, MD, PhD
Presented to UVA with: Shortness of breath, chest tightness, fatigue, heart palpitations, leg cramps, pregnancy (10 weeks gestation)
“I was born with a very benign heart murmur, but other than that, I’d never had any health issues or been hospitalized,” says Chavez. “I had an easy pregnancy with my daughter, but with this pregnancy, I started getting short of breath just doing stuff around the house at around 8 weeks.”
In the years preceding her second pregnancy, Chavez saw several local practitioners for early symptoms, including heart palpitations and fatigue. However, her health concerns were thought most consistent with anxiety or deconditioning. This changed when her local cardiologist did an echocardiogram. “My pulmonary pressures were through the roof, and that’s when they referred me to UVA,” says Chavez.
Diagnosis: Pulmonary arterial hypertension (PAH)
Chavez was admitted to UVA, where she had another echocardiogram to confirm signs of pulmonary hypertension and look for evidence of heart failure. This test was followed by a heart catheterization procedure.
“When you have elevated blood pressure in the pulmonary arteries of the lungs, the right chamber of the heart, which tends to be under much lower pressure and weaker than the left side, starts struggling to pump blood against very high pressures,” says Mazimba. “What makes blood go around the body is the pressure gradient, moving from high pressure to low — this keeps blood moving — so if pressure is similar between the two sides of the heart, then the heart comes to a standstill and you have cardiac arrest. The risk for cardiac arrest was a major concern for this young lady.”
Chavez’s official diagnosis was pulmonary arterial hypertension, a rare variant of pulmonary hypertension that can have a genetic cause rather than a more common cause, such as congestive heart failure, valvular disease or underlying lung disease. “She would meet our most severe classification in the most severe variant of this disease,” says Mihalek.
Treatment: IV medication, increased surveillance, cesarian section
Chavez was started on prostacyclin therapy, an IV medication that promotes vasodilation of the pulmonary arteries. “We had to titrate these medications, gradually increasing dosage over two weeks,” says Mazimba. “These medications can have intolerable side effects, including nausea, vomiting, headaches and diarrhea, so we had to find the right balance that would allow her to go home safely and comfortably.”
Throughout her initial treatment in the hospital, the high-risk obstetrics team kept a close watch on the baby’s condition. “They checked on the baby every day and he was doing fine through all of this. His heartbeat was strong,” says Chavez.
“The main health risk of this condition is for the mother,” says Fuller. “There’s a different physiology during pregnancy that high-risk OBs can help communicate to cardiologists in cases like these. We can help clarify what a pregnant woman is going through compared to an adult who isn’t pregnant.”
“The doctors were really concerned about my health,” says Chavez. “They talked about how serious this condition was and told me that my husband and I were going to need to consider possibly terminating the pregnancy because it’s a very high mortality rate for pregnant women with this disease. That was one of things that was talked about right away. I had had two miscarriages prior to this pregnancy, so that was really rough. It was hard to process with everything going on. I couldn’t think about anything else but what my body was going through. So we decided to wait until after I was out of the hospital to make a decision. Fortunately, we had some time because it was still early in the pregnancy.”
“Most high-risk doctors like me will counsel toward termination simply because we don’t want [the mother] to die,” says Fuller. “But we also have to discuss faith-related issues and how that intersects with her healthcare as much as we talk about lab results. If your faith is important to you and continuing your pregnancy is important as an extension of your faith, then it’s OK to choose to take a risk so that your faith needs will be satisfied. We counseled her about the risks, but at the end of the day, she decided to accept the risks of pregnancy and continue to build her family and be true to herself.
When she realized that her medical teams would accept her decision to continue her pregnancy, a huge burden was lifted off of her to go forward with her pregnancy with confidence,” adds Fuller. “She could have faith that whatever happened would be OK because she chose to let that be a big part of her decision. Her care teams rallied around that decision. We had a large multidisciplinary team who were all very determined to have the best outcome for her and her baby as we possibly could.”
Chavez was discharged from the hospital after two weeks in her twelfth week of pregnancy. At home, she continued to mix her own medications and gradually increased her dosage. She returned for follow-up visits at UVA every two weeks initially and then every week as her due date approached. Her pregnancy progressed normally and she was scheduled for a cesarean delivery at 35 weeks on Dec. 31. “The initial plan was to be admitted at 28 weeks, but I was able to make it to 35 weeks,” says Chavez.
Her contractions began on Dec. 30, so the UVA team rushed to prepare for an early delivery. The team included multiple specialists well informed of Chavez’s condition, including maternal-fetal medicine, surgery, pulmonary, operating room staff, anesthesiology, neonatology, pharmacology and the surgical ECMO team. The surgical ECMO team was prepared to use extracorporeal membrane oxygenation (ECMO) to replace the function of Chavez’s heart and lungs, if that became necessary during her delivery.
Chavez was given an epidural and surgeons successfully delivered the baby. “He came out and he was fine. He was crying and everything and the doctors said he looked good,” she says.
Chavez, however, experienced a drop in blood pressure. “There were a couple of moments during the delivery when we considered putting her on ECMO, but we made a few changes to her medications and we were able to stabilize her blood pressure,” says Mazimba.
Despite the successful delivery, Chavez was not in the clear. “We have to keep in mind that, with a high-risk pregnancy like this, delivery is just one part of the journey because consequently most deaths will occur in the post-partum period,” he adds. “The heart really struggles at that point.”
“During pregnancy, blood volume increases by 20-30% and the heart output is up by 50%. So at the end of the day, the heart is working very hard during pregnancy to manage extra blood and pump that blood to the baby,” explains Fuller. “After delivery, the uterus is no longer able to receive the extra blood, so we have 20% more blood in the pipes, but now all that extra blood has nowhere else to go in the body except into mom’s blood vessels, and the heart becomes overwhelmed. A healthy heart can compensate and, in a short period, typically mom can re-adapt to the less-athletic state of pregnancy. But for moms with pulmonary hypertension, the extra blood puts a strain on the heart and lungs and they’re not flexible enough to adapt. This can be life-threatening.”
Chavez was taken to the UVA Coronary Care Unit (CCU) for recovery, with ECMO on standby as a precaution. She received blood transfusions due to blood loss during surgery, in addition to IV medication and standard care for her C-section.
The baby was healthy and weighed 5 lbs., 7 oz. He was discharged from the hospital after five days. “I was able to see him a couple of times each day while he was in the hospital,” she says. “We were really pleased he was a good weight since he was five weeks early.”
Chavez remained in the hospital for two weeks after delivery. She experienced side effects of the medication, but her condition stabilized and she was discharged home. “It was so good getting to come home to my babies,” she says. “I feel like the CCU team and doctors worked hard to make that happen. There were a lot of ducks that had to be in a row — a lot of medications at my house — before I could be discharged. And I know they worked hard to make that happen.”
Outcome: A healthy baby and mother is stable
Chavez has now returned to her daily routine, caring for her two children. She remains on IV medications to treat pulmonary hypertension. “The last time I had an echo and blood work, the doctors were shocked at how good things were looking,” she says.
Her son, Adrian, is now 7 months old. He had an echocardiogram as a precaution, and results were normal.
Follow-Up: Continued surveillance and IV medications
Chavez will continue being monitored by the pulmonary hypertension team at UVA. “Currently, her heart function is significantly improved. However, this is a progressive disease,” says Mazimba. “If her disease were to progress and we exhausted our ability to keep her stable on medication, a lung transplant may be necessary.”
“We don’t know her trajectory,” adds Mihalek. “We do know her life will be shortened by this disease — she may live to 95 rather than 100 — and she knows this, too. In the next year, one of the things that will occur is the constant assessment of her disease and tinkering of her medications. Her care now is about how to make her care plan fit her life. We want to transition so that she’s spending less time in clinic and more time at home with her family.”
A Testament to Collaboration
The UVA team is adamant about this being a Hilary success story and not a UVA success story. “She took it upon herself to do her research and ask great questions, so we can’t take her out of the equation,” says Mihalek.
However, there is something to be said for the combined expertise of the many specialists required to manage this complex condition. “I think the reason this went so well is because we had a plan. [Dr. Mazimba] and I met extensively with every level of service — anesthesiology, neonatology, pharmacy, nursing staff, pulmonology, cardiology, hematology, maternal-fetal medicine and others,” says Mihalek. “These meetings were quite extensive and very collegial. The collaboration across service lines was awesome. I think we understand the complexities of this disease better than most places because of that collaboration.”
To refer a patient to UVA Health, call UVA Physician Direct at 800.552.3723.