People tell James DeGiacomo, a 55-year-old route salesman, he’s lucky to be alive—and not only because he survived COVID-19. Even though the virus swept through his family in March 2020, he was recovering by May and back to making deliveries. Then, one day he came home from work, did some chores in the yard, ate dinner, and went upstairs to shower. That’s when he felt a striking pain in his chest, different than any pain he’d ever had, followed by an odd sensation radiating along his jawline.
“My wife and daughter called my son’s fiancé, who is a nurse, and she said to go to the emergency room,” says DeGiacomo.
It took 17 minutes to get to Yale New Haven Hospital, which was, ironically, on one of his delivery routes. Within an hour of his arrival, he called his wife to report on his diagnosis: A section of his aorta was dissecting, or tearing, a problem that can cause life-threatening internal bleeding. He would need open-heart surgery immediately. He told her he loved her.
The surgery would be a long and complex one. There was a bulge in the aortic root (technically, it was a rupture in the aorta, the body’s largest artery). A surgery in the root, which connects the aorta to the heart, usually involves replacing a valve that keeps the blood flowing in the proper direction.
But Yale Medicine cardiac surgeon Roland Assi, MD, MMS, had a better idea.
He wanted to perform a surgery that would repair the valve rather than replace it. It’s one of the most technically complex operations in cardiac surgery, but it has important advantages for patients. Repair means the problem is solved and life goes on as it did before. In contrast, patients having a replacement need to choose between the implantation of an animal valve (that would need to be replaced in 10 or 15 years) or an artificial valve, which would mean taking blood thinner medications for the rest of their life—and raising the risk of stroke.
Aortic root aneurysm: A 'silent' but serious condition
What’s called “valve-sparing surgery” in the aortic root isn’t new, but because of its complexity, few cardiac surgeons have developed the expertise they need to perform it, says Prashanth Vallabhajosyula, MD, MS, director of Yale's Aortic Institute, part of Yale New Haven Hospital’s Heart and Vascular Center.
Before coming to Yale, Dr. Vallabhajosyula performed the surgery at the University of Pennsylvania, and he saw the need for this level of care in Connecticut, so patients would not need to travel to New York or Boston to see a surgeon qualified to do the procedure. “It’s been shown that when the operation is done properly, it has much better long-term outcomes in terms of mortality, stroke, infection, and other major problems—because you keep your own valve,” Dr. Vallabhajosyula says. But, given the scarcity of this expertise, “Many patients end up getting replacements when they should be getting repairs,” he says.
The aorta, which is attached to the heart by the aortic root, is shaped like a cane. It curves at the top (near the heart) and descends down (near the abdomen). It’s less common for aneurysms to develop in the aortic root than in the abdominal aorta. “Because of their location, aortic root aneurysms are more dangerous and technically more challenging to operate on,” Dr. Assi says. This type of aneurysm mostly occurs in people in their 40s, 50s, and 60s. Sometimes, the aneurysms are related to high blood pressure, or another heart—or other inherited—condition.
Aneurysms are usually “silent,” with no symptoms, and are typically only detected incidentally when a patient undergoes imaging for another condition. In fact, a newly diagnosed patient usually has no idea that an aneurysm has been growing inside of them for years, Dr. Assi explains. “It’s a very slow process. In general, it’s like blowing up a balloon. You need a lot of pressure for it to actually pop,” he says.
But some people notice small signs. In DeGiacomo’s case, he’d previously had chest discomfort that led a cardiologist to diagnose a small bulge in his aorta in 2017. It had been monitored regularly since then.
Dr. Vallabhajosyula also had a patient named Anisa (who asked to keep her last name private), who noticed an unusual palpitation—like a “skipped heartbeat or an extra heartbeat”—when she sat down to rest while her infant son was taking a nap. “It was a sensation I couldn’t quite put my finger on,” she says.
Anisa was 36 and healthy—she took pride in working out regularly. When her cardiologist diagnosed a bulge in her aortic root, she cried. “I envisioned the worst-case scenario,” she says. Over the course of several months, she had multiple telehealth visits with Dr. Vallabhajosyula, who calmed her fears and told her he wanted to repair her valve rather than replace it. “That was music to my ears,” she says.
Valve-sparing aortic root surgery: A complex operation
Both patients were brought into the operating room while the pandemic was in full force—DeGiacomo in May 2020, Anisa in December 2020.
The procedure to repair a patient’s aortic root can take several hours—even longer if a patient has complex anatomy. The heart must be kept still, so a cold solution is used to stop the heart while a heart-lung machine takes over the patient’s breathing.
Throughout the operation, the surgeon works in close collaboration with imaging experts who provide guidance regarding the patient’s cardiac anatomy and location of the aneurysm. Great skill is needed, says Dr. Vallabhajosyula, because “the surgeon must be able to imagine how the heart and aortic root are going to sit in the chest when the heart is actually beating again—when the heart and aorta are full of blood.”
Each patient is different. For instance, Dr. Assi says DeGiacomo’s surgery was an emergency that took longer than might be expected because the dissection "propagated into the arch." So, in addition to the root surgery, part of the arch had to be replaced.
Anisa’s experience was different. She is among the 1 to 2% of the population with a bicuspid valve, which is considered a congenital, or “at-birth,” anomaly—meaning she was born with a valve in her aortic root that has two flaps instead of the usual three. That was more challenging to repair, Dr. Vallabhajosyula explains.
Because she was diagnosed before her condition became an emergency, she was able to schedule her surgery in advance.
Genetic testing can help identify aneurysm risk
Doctors hope to start to identify aortic aneurysms—including those in the root—early, when patients like DeGiacomo and Anisa—and their children and family members—undergo genetic testing. If the test shows they have a genetic mutation that puts them at risk for an aortic aneurysm, they can be monitored by a cardiologist. That way, if one develops, it can be diagnosed early.
Scientists are still in the process of identifying genetic mutations associated with aortic aneurysm, but they are making progress. Ten years ago, they knew of 10 mutations linked to aortic aneurysm; today they have a list of 45—and there are still more to be identified, says Joelle Buntin, MSN, RN-BC, the surgical nurse coordinator for the Aortic Institute, who manages genetic testing for patients.
“We do whole exome sequencing on pretty much all our patients,” Buntin says. If a gene is identified, a single gene analysis can be done for their family members to see if they carry the same gene and if they will be susceptible to an aneurysm as well, she says. A patient can use a home test that involves providing a saliva sample and putting it in the mail—or they can go into a lab and provide a blood sample. “We find a known marker in, on average, one out of three patients,” Buntin says.
Yale also has a surveillance clinic that provides patients who have had aneurysm surgery with lifelong follow-up. The clinic will also follow family members with a known gene mutation associated with aortic aneurysm to monitor their aorta size and watch for growth.
Awareness that a patient has a certain genetic mutation can provide critical information doctors can use for decision-making. For instance, the presence of a particular gene may help doctors predict that a patient’s aneurysm is in danger of rupture when it reaches a certain size. Other mutations are associated with Marfan syndrome and Ehler’s Danlos syndrome, two inherited disorders. For many of these patients, an echocardiogram can also provide critical information, Buntin says.
In DeGiacomo’s family, genetic testing revealed that one family member had a genetic mutation similar to his own, while another had a bicuspid aortic valve. Both of those family members will be monitored throughout their lives and should be able to have any complications treated before they become emergencies, says Dr. Assi. “Now that we know, we can prevent problems from happening,” he says.
Yale's approach to aortic root surgery has led to 'excellent outcomes'
Dr. Vallabhajosyula routinely follows up with patients who have had this surgery at Yale, and he says all have done well. “We haven’t had any mortality or stroke. Patients don’t need blood thinners—in fact, they need no medicine at all related to the aorta, and their valve should potentially last for the rest of their life," he says.
Part of this is because when the surgery is elective, patients are chosen carefully based on such factors as health—if the surgeon thinks there could be serious complications, he or she may decide it’s better for that patient to have a valve replacement.
Yale surgeons also have standardized the preoperative, intraoperative, and postoperative care for these patients, and routinely employ the same surgical techniques. They also work with a dedicated multidisciplinary team. “This has enabled us to maintain and achieve excellent outcomes so far,” says Dr. Vallabhajosyula. “But that does not mean we are complacent. As a team, we are constantly discussing how we can improve the care we provide to our aortic patients and their families,” he says.
Yale surgeons also maintain an active database of all the aortic root surgeries they perform, with information on root dimensions and characteristics of the valve before and after the operation. This will help to add to the body of literature on this medical problem, the doctors say. “We want to continue to learn from this process,” says Dr. Assi.
Anisa was told she could expect to feel better three months after surgery and to be fully recovered about a year later. Just before her three-month mark, she said, “Right now, I feel very good and I’m inching toward great. I work out every day.”
She does plank exercises, as well as uses an elliptical machine and exercise bike. She even makes herself available to talk to new patients about her experience with the surgery. “I tell them, 'I’m so sorry you have to go through this, but in retrospect—in the grand scheme of things—what a blessing to have found this,'” she says.
DeGiacomo is changing his career, after doctors told him some of the physical work related to making deliveries as a route salesman could be risky. It’s no longer easy for him to help friends with projects that involve climbing ladders and lifting heavy objects. But he is grateful. “The surgery made me re-examine my life,” he says. “I feel incredibly blessed and fortunate. I always had a pretty good attitude, but now every day is a gift.”