At one time, respiratory failure was the primary cause of death in young men and boys with muscular dystrophies, but since improvements in ventilator support have addressed this problem, cardiac complications such as cardiomyopathy have become the main cause of death in this group, with the highest risk of death in people with Duchenne muscular dystrophy (DMD). Researchers from Rome have reported that the novel use of ventricular assist devices in this population can prolong life.
Gianluigi Perri, MD, PhD, of University Hospital and Bambino Gesù Children Hospital in Rome, and his coauthors, shared their experience treating seven patients with dystrophinopathies and dilated cardiomyopathy (DCM) with left ventricular assist devices (LVADs) from February 2011 to February 2016 (J Thorac Cardiovasc Surg. 2017 March;153:669-74). “Our experience indicates that the use of an LVAD as destination therapy in patients with dystrophinopathies with end-stage DCM is feasible, suggesting that it may be suitable as a palliative therapy for the treatment of these patients with no other therapeutic options,” Dr. Perri and his coauthors said.
Heart transplantation is considered the procedure of choice for children with severe advanced heart failure, but transplantation is contraindicated for children with dystrophinopathies because of the risk of respiratory failure and progression of skeletal myopathy leads to limited functional capacity. Hence, Dr. Perri and his coauthors developed their alternative treatment for end-stage heart failure in these children. They used the Jarvik 2000 LVAD (Jarvik Heart Inc., New York) as destination therapy.
Six of the seven patients they operated on had DMD and one had beta-2 sarcoglycan deficit. Their ages ranged from 14.2 to 23.4 years. Two patients had early complications: retropharyngeal bleeding and cholecystectomy; and abdominal bleeding and splenectomy. Two different patients had late complications: gastrostomy; and osteolysis and infection at the pedestal site. Three patients died after the operation: one of stroke at 15 months; one of severe bleeding about 28 months later; and one of lung infection 45 months afterward. Follow-up for the surviving patients ranged from about 2 months to 40 months. Median hospital stay was 77 days.
Dr. Perri and his coauthors noted that the DMD Care Considerations Working Group expanded acceptable therapies for DMD cardiomyopathy to include novel treatments such as mechanical circulatory support and implantable cardioverter-defibrillators.
“Although the best approach remains unclear, it does seem clear that treatment should be more aggressive,” the researchers said. The limited life expectancy of these patients makes transplantation a complicated choice when a shortage of donors is a concern. “Therefore, the alternative therapeutic option is the use of LVAD,” Dr. Perri and his coauthors said.
These patients need care at centers “with a high level of experience of patients with DMD,” the researchers stated. Common comorbidities such as severe kyphoscoliosis and respiratory muscle weakness in this population increase surgical risks.
Dr. Perri and his coauthors used a surgical technique that involved avoiding the left thoracotomy approach common in adults who undergo VAD implantation, because of respiratory insufficiency in these younger patients. They also used cardiopulmonary bypass in all but one patient who had a minimally invasive off-pump procedure through a left anterior minithoracotomy.
The researchers “strongly suggest” noninvasive ventilation after surgery to assist in pulmonary function often compromised by scoliosis and muscle weakness. “Our experience shows that postoperative care can be extremely challenging and is often burdened by unexpected complications,” they noted.
Kyphoscoliosis poses challenges when placing drains, and complications of these patients should be treated only in a specialized center. “Indeed, one of our patients died in a peripheral hospital because they underwent bronchoscopic examination with an endoscope that caused severe and intractable retropharyngeal bleeding,” they said.
The researchers no relevant financial relationships to disclose.