A left ventricular assist device (LVAD), which helps the heart pump blood throughout the body, was implanted in the chest of a young man with Duchenne muscular dystrophy (DMD) at Cincinnati Children's Hospital Medical Center in September. The patient is 29-year-old Jason Williams, of Peebles, Ohio.
According to a press release issued Oct. 16 by Cincinnati Children's, this is the first time such a device has been implanted in someone with DMD in the United States.
Cardiomyopathy (deterioration of the heart muscle) and resulting heart failure (lack of pumping ability by the heart) are a major cause of disability and death in DMD and the related disorder, Becker muscular dystrophy (BMD).
Both DMD and BMD are caused by a deficiency of the muscle protein dystrophin in skeletal and heart muscle tissue.
‘New territory’ in DMD heart care
Standard treatment of cardiomyopathy in DMD and BMD involves the use of medications — ACE inhibitors, beta blockers and sometimes other drugs — as well as respiratory care. In addition, some people with DMD or BMD can benefit from an implanted defibrillator, a device that causes the heart to resume contracting in a normal rhythm. LVADs have been implanted in a few people with BMD.
MDA has a long history of supporting research into treatments for cardiomyopathy in DMD, BMD and other forms of muscular dystrophy.
"All of us at the Muscular Dystrophy Association are paying close attention to the news regarding an LVAD implant done in a patient with Duchenne muscular dystrophy at Cincinnati Children’s," said neurologist Valerie Cwik, MDA's medical director and executive vice president of research. "An LVAD could have the potential to help those with Duchenne and Becker muscular dystrophies experiencing heart failure due to their disease."
Cwik added: "We consider this [ventricular assist device implantation] very new territory for management of Duchenne, and we look forward to learning more in time. We must offer caution that this is a serious procedure that includes significant known risks, including bleeding and stroke, as well as unknown risks specific to the Duchenne and Becker communities.
"MDA has a strong interest in treatments available now that may extend life and improve quality of life, and we remain committed to funding the most promising research in Duchenne and other muscle diseases."
A cardiologist's perspective
The implanting of an LVAD in someone with DMD seems "a logical step," says Elizabeth McNally, a cardiologist and MDA research grantee at the University of Chicago. "We have considered it in patients, and I know of two Becker patients who have received them."
Until a few years ago, McNally says, LVADs were only approved for temporary use, as a “bridge” to heart transplantation. However, within the last three years or so, she notes, they have been approved by Medicare as a "destination device," meaning they can be implanted in people who are not candidates for a transplant. Most people with DMD would not be considered candidates for heart transplantation, although some with BMD have received transplants.
"Neither is a panacea," said McNally, referring to heart transplantation and ventricular assist devices. "The LVAD is associated with a lot of complications, the primary ones being infection, bleeding, blood clots and strokes. These patients have to be carefully managed; you're still managing the heart failure, plus other problems.
"On the other hand, if you get a transplant, you now have to manage the risk of infection from the immunosuppression that's needed, as well as the long-term complications of the immunosuppressant medications," McNally noted.
“In Duchenne and Becker muscular dystrophies, a ventricular assist device seems like a reasonable thing to do."
For more information
Here are some additional resources that focus on the cardiomyopathy and other cardiac complications in DMD and BMD: