Cardiac Management of Ventilator-Assisted Individuals with Duchenne Muscular Dystrophy

Abstract

As life expectancy of patients with Duchenne muscular dystrophy (DMD) has increased to the 5th decade, in part due to improved ventilatory support, cardiomyopathy is projected to increase as a cause of death. International guidelines recommend an annual assessment of cardiac function and initiation of appropriate pharmacological treatment. We conducted an audit of the cardiac management in patients with DMD requiring ventilatory support and reported a case series of the collated cardiac investigations. Patients with DMD requiring ventilatory support were included in the study. The date of the last electrocardiogram (ECG), echocardiogram (ECHO), cardiology review and pharmacological management were retrieved from the medical records. If an annual cardiac assessment had not been performed this was requested and the latest ECGs and ECHO reports were collated. A total of 30 patients with DMD (29 males, mean (SD) age of 30 (7) years) met the inclusion criteria. Although there was ECG and ECHO documentation in 24 and 21 individuals, respectively, it was only recent in 10 and 6 individuals. In all, 60% of patients had been assessed by a cardiologist, but only 10% within the last year. Over half of the patients failed to attend their new appointments. From the available results, 18 of the 19 patients had an abnormal ECG, 11 of the 16 patients had left ventricular (LV) impairment and 55% of patients had a change in prescription following cardiac investigations. There is a need for a coordinated cardiorespiratory approach towards adult patients with DMD. Over a third of patients had normal LV function suggesting that cardiomyopathy is not inevitable in this group.

Compliance to Care Guidelines for Duchenne Muscular Dystrophy

“…We identified three previous studies [9-11] examining different aspects of self-reported real-world DMD care in various settings. The first study [9] investigated cardiac management in 30 Canadian DMD patients and showed suboptimal frequency in visits to cardiac specialists, including poor compliance by patients to attend new appointments. The second study [10] investigated palliative care of 34 US DMD patients.…”

Cell therapy in muscular dystrophies: many promises in mice and dogs, few facts in patients

“…Some muscles perhaps could not be treated properly (e.g., the diaphragm and intercostal muscles, involved in breathing). We should look for other options for the treatment of cardiopathy in DMD patients [115,116], which will depend on the degree of evolution of the same. Finally, we should accept that there are other dystrophin-related problems in some DMD patients that are not linked to myofiber necrosis, such as cognitive disorders [117], which could be treated only by an efficient gene therapy, and this probably very early in the life of the patient.…”

Echocardiographic Image Quality Deteriorates with Age in Children and Young Adults with Duchenne Muscular Dystrophy

“…Systolic left ventricular dysfunction and ventricular remodeling is almost universally present in patients with DMD by 18 years of age ( 4 , 7 , 8 ). Early initiation of medical therapy, including angiotensin-converting enzyme inhibitors, aldosterone receptor antagonists, and beta receptor antagonists, may slow cardiac disease progression and remains an active area of research ( 9 , 10 ). However, due to patients’ non-ambulatory status and respiratory compromise, heart failure symptoms typically do not present until advanced cardiomyopathy has developed.…”