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A lot has changed in the 24 years since Daniel Maldonado of Andover had his first heart transplant at BWH. For starters, doctors now are able to test patients for the gene that can cause the type of cardiomyopathy that Maldonado and many members of his family have been diagnosed with.
“My older sister died from dilated cardiomyopathy, and at the time, we didn’t know it was genetic,” said Maldonado, a father of two, in Andover. “She was offered a transplant after she got sick, but it was so new at the time that she was too scared. By the time she changed her mind, it was too late for her.”
Maldonado had his transplant at age 26 in 1986, just two years after the first heart transplant in New England was performed at BWH. “Seeing my mother lose her daughter, and knowing that my sister wasn’t able to do it gave me motivation to have the transplant,” he said. “I was scared, but I had faith.”
History of Heart Transplant
About 27 years ago—before Maldonado’s transplant—many in the medical field thought heart transplantation was too risky. Even BWH leaders were hesitant to allow the procedure to be performed here.
“I was asked to re-explore it in depth, and felt that heart transplantation was a viable, long-term option for survival,” said Gilbert Mudge, MD, who started the hospital’s heart transplant program. “We had to convince the hospital leadership and insurance companies that it was.”
He and his team did exactly that, and on Feb. 2, 1984, BWH surgeons successfully performed a heart transplant on patient Gerald Boucher and followed that up with New England’s second heart transplant eight days later on Matthew Shelales.
Since 1984, BWH has performed more than 550 heart transplants and encompasses one of the busiest cardiac transplantation and circulatory assist programs in New England, with patients’ survival exceeding national averages.
“Since the time of the first heart transplant, outcomes have greatly improved, and patients are living longer with excellent quality of life now,” said Michael Givertz, MD, medical director of the Heart Transplant and Circulatory Assist Program.
Excellent Quality of Life
While the surgery itself has changed little over the last 25 years, better medications to prevent infections and counteract organ rejection are now available. Many patients are able to go home about two weeks after the surgery.
“I can’t believe how quickly people are out of the hospital after transplant now,” said Nancy Fraser, who received a heart transplant in 1987 at age 19 and remained in the hospital for a full month afterward.
Fraser, who suffered a stroke at age 16 as a result of cardiomyopathy, struggled with the rejection medications for a year after transplant, but then she made a full recovery and resumed a healthy life. “I was back to going out dancing,” she said.
Fraser had put her dreams of attending beauty school on hold while she was sick, but when she was 25, she enrolled. “I like to make people feel good,” said Fraser, who is now district manager for a salon chain. “Especially with what I went through when I was sick, a lot of times I didn’t feel or look good.”
Today, many patients are feeling healthier pre-transplant with the help of major advances in technology, such as the ventricular assist device (VAD). “VADs serve as a bridge to transplant for many patients,” Givertz said.
With a VAD, many patients can go home, work and do other activities while waiting approximately five to six months for a heart, the average wait time across the country.
Research Paves the Way for Personalized Medicine
Meanwhile, researchers are forging ahead with studies that help to personalize medicine for patients with genetic diseases, like dilated cardiomyopathy, which runs in the Maldonado family.
“Daniel and his family played a key role in furthering our understanding of the genetic causes of dilated cardiomyopathy by participating in genetic research,” said Carolyn Ho, MD, medical director of the Cardiovascular Genetics Center.
In 2000, researchers led by Christine and Jon Seidman at BWH published a paradigm-changing study that described how mutations in the same family of genes can cause dramatically different forms of cardiac remodeling, resulting in both dilated and hypertrophic cardiomyopathy.
“We’re continuing to study the genetic contributors of dilated cardiomyopathy in the advanced heart failure population at BWH,” Ho said. “Until recently, genetic testing for dilated cardiomyopathy was only available through research studies. Insights into the causes of heart failure in the Maldonados and other families have enabled the development of clinically available genetic testing. In the future, we anticipate the emergence of even more powerful genetic analysis techniques and bench-to-bedside translation of genetic discoveries into improved patient care.”
In fact, a new genetic test for dilated cardiomyopathy, the DCM CardioChip, was launched this week at the Partners Laboratory for Molecular Medicine and is now available for patients. “The test uses a new array-based technology that makes it cheaper and faster than other methods,” said Heidi Rehm, PhD, a geneticist in the lab. “It also tests for 19 genes, compared to other tests that screen for fewer genes, which means there is a higher clinical sensitivity and greater likelihood that we will find the unique gene mutation causing disease in each patient.”
Genetic testing may allow definitive identification of which family members are truly at risk for developing disease, as well as assisting with early diagnosis of people even before the onset of symptoms. This information can help physicians begin prescribing medications to try to forestall the progression of dilated cardiomyopathy.
“It’s reassuring that people can now be screened,” said Maldonado, whose younger brother Abel died in 2005 from cardiomyopathy. “It’s good to know your risk, and there are medications we can take to help.”
Maldonado, who underwent a second heart transplant at BWH in 2005, is thankful for the many doctors, nurses and others who have cared for him the past 24 years at BWH.
“I will never leave Massachusetts,” Maldonado said. “I love the seasons, and I need my doctors.”