Christopher was born without a tricuspid valve and one “working ventricle.” He had to undergo several surgeries as a child to ensure blood flow to his pulmonary artery.
A few years ago, at 25, he needed a new pacemaker, but because his cardiologist didn’t specialize in congenital heart disease, Christopher was worried the doctor wouldn’t be familiar with the intricacies of his unusual heart structure. He asked the physician to take some images in advance of the procedure to be sure he knew what he was dealing with.
What the doctor saw took him aback.
He told Christopher, “I’m not operating on you. I’ve never seen this before.”
He referred him to Boston for the procedure.
Baystate’s Adult Congenital Heart Program
There was a time when patients like Christopher would not have lived to adulthood, says Dr. Yvonne Paris, chief of Baystate Pediatric Cardiology. But thanks to advanced diagnostics– sometimes even during pregnancy–and changes in cardiac surgery and medical care, she says children with congenital heart disease are living well into their 30s, 40s, 50s and beyond.
It is for them that Baystate launched its new Adult Congenital Heart Program in April 2014. The program is overseen by Dr. Paris; Dr. Leng Jiang, director, Noninvasive Cardiology at Baystate; and Dr. Michael Singh, who practices at both Baystate and Boston Children’s Hospital, and who specializes in adult cardiovascular disease, adult congenital heart disease, and Marfan syndrome/related connective tissue disorders. Rounding out the team are Rose Marie Manarite, NP; Rebecca Fisher, PA; Qiwen Ye, RDCS; and Beth Donahue, office supervisor. Together, they provide a high-quality, expert continuum of care for young adults with congenital heart disease as they age.
Dr. Paris and Baystate’s other pediatric cardiologists – Dr. Anna Tsirka, and Dr. Stewart Mackie, – treat the patients when they are children and teens, transitioning them to adult care somewhere between 18 and 21, whenever the patient seems ready.
Routinely, the pediatric cardiologists refer these patients to an adult cardiologist, such as Dr. Jiang, who is the director of Baystate’s world class echocardiography laboratory, and who trained in adult and pediatric echocardiography at Mass General Hospital, Harvard University. If the severity of the disease is more complex, as in Christopher’s case, or if patients had previously had surgery in Boston, Dr. Paris refers them to Dr. Singh, who sees patients monthly at Baystate’s Tolosky Center at 3300 Main Street in Springfield.
“We’re helping the patients by being closer to them, making it easier to access care so they don’t get lost without follow up,” Dr. Singh s. “A lot of these patients are young. Many do not have the resources to take an entire day off to drive into Boston. It gives the patients a way to get very specialized care for very complex heart conditions in their own communities.”
Christopher couldn’t agree more. “It’s awesome that he [Dr. Singh] comes to Springfield. It makes it a lot easier for me to keep up with my health.”
Increasing Survival Rates
In the 1960s, only 15% of children born with congenital heart disease survived through puberty.
“Now, the expectation is 90% will survive to that age. This population of patients is growing, and it’s estimated there are now about one million people in the country living with congenital heart disease,” Dr. Paris said.
In the past, patients would have remained under the care of their pediatric physician throughout their life span; but as they began to live longer, that care arrangement became inadequate. The adult patients developed adult diseases like diabetes, lung disease, and high blood pressure, which pediatricians are not trained to manage.
“Several years ago, it became clear we needed to develop a specialized field of adult congenital heart physicians,” Dr. Paris said. “Other adult physicians are not familiar with these kinds of diseases, as adult cardiologists are not trained in congenital heart disease. Baystate’s clinic is innovative in meeting this need.”
Leading the Nation
Care for adult patients with congenital heart disease is also expanding nationally. In October 2015, the American Board of Medical Specialties will offer the examination for certification in adult congenital heart disease for the first time.
Dr. Singh is on the panel of physicians writing the questions for that board exam, so he will be among the first to be granted certification. He has also been involved in writing guidelines for accreditation for adult congenital heart disease programs and clinics like Baystate’s.
His initial training was in internal medicine and pediatrics; he completed a fellowship in adult cardiovascular disease at Baystate Medical Center, and then a second in adults with congenital heart disease, pulmonary hypertension, Marfan syndrome, and other related connective tissue disorders.
High Risk but Underserved
Adult patients with congenital heart disease can fall through the cracks for many reasons–ranging from a lack of skilled providers to the fact that the patients often don’t understand the need for closely-monitored, ongoing care.
“Even though there are over a million adults with congenital heart disease, it is estimated that only 35,000 are followed in specialized clinics,” Dr. Singh said. “This puts them at risk for lack of appropriate medical care, which may lead to long-term cardiac and non-cardiac complications that would have been preventable.”
Christopher’s Story
Christopher was almost a patient who fell through the cracks. He was diagnosed at birth with congenital heart disease. At 3, he had a Glenn shunt inserted to connect the superior vena cava to the pulmonary artery. At 4, he had the Fontan procedure to connect the inferior vena cava to the pulmonary arteries, providing a downstream gradient of sorts for blood flow.
In 1995, he also had a pacemaker implanted to address an irregular heart rhythm called intra atrial reentrant tachycardia. This was actually the first procedure that Christopher can recall, and it marked the first time he knew he was different from other children.
At age 16, he met Dr. Paris at Berkshire Medical Center, where she ran a clinic. Two years later, he became rebellious, tired of doctors and procedures.
“I basically just stopped with everything,” he said. “Or tried to.”
That didn’t last long. Christopher realized he was having medical issues and needed care. He was transferred to Boston for the second pacemaker implantation and was eventually referred back to Dr. Paris, who referred him to Dr. Singh for ongoing supervision.
Dr. Singh says he is ensuring that Christopher’s heart rhythm issues remain under control, and is monitoring his liver because patients with the Fontan circulation and other congenital heart diseases tend to develop multi-organ systems issues including liver disease and other non-cardiac system dysfunction.
Christopher says that having this disease has been incredibly stressful for him, and he often feels alone in it.
Dr. Singh notes anxiety and depression are common in patients like Christopher, likely from dealing with the stress and strain of surgeries and living with a chronic medical condition. It’s a side of the disease he makes sure to talk with patients about, and he makes referrals to mental health professionals as needed.
Christopher says about his visits with Dr. Singh: “It really makes me feel comfortable,” adding that seeing a specialist who understands the disease has given him new faith. “It eases me a little bit.”