Cardiac Management of the Patient With Duchenne Muscular Dystrophy

Abstract

Duchenne muscular dystrophy (DMD) results in a progressive cardiomyopathy that produces significant morbidity and mortality. To improve the quality of life in patients with DMD, cardiac care is focused on surveillance and management, with the goal of slowing the onset and progression of heart failure complications. The current article is intended to be an expanded review on the cardiac management data used to inform the 2018 DMD Care Considerations recommendations as well as be a discussion on clinical controversies and future management directions. The new cardiac guidance includes changes regarding noninvasive imaging surveillance of cardiac function and pharmacologic therapy. Many emerging therapies lack sufficient evidence-based data to be recommended in the 2018 DMD Care Considerations. These are discussed in the present article as clinical controversies and future directions. Important emerging therapies include new heart failure medications, mechanical circulatory support with ventricular assist devices, heart transplantation, and internal cardiac defibrillators. Future research studies should be focused on the risks and benefits of these advanced therapies in patients with DMD. We conclude this review with a brief discussion on the relationship between the heart and the recently developed medications that are used to directly target the absence of dystrophin in DMD.

Exploring the acceptability of implantable defibrillators in patients with cardiac dystrophinopathy and carers

“…Worldwide, a small number of patients with cardiac dystrophinopathy have had ICDs implanted for prophylactic indications and there are anecdotal reports of some receiving antitachycardia pacing or shock therapy appropriately for spontaneous arrhythmias 24. However, whether widespread deployment of ICDs would prolong life for the majority of patients with DMD remains to be determined 25. It is also uncertain whether the increased risk of the implant procedure itself justifies the potential benefits in this progressive, multisystem condition 26 27.…”

Duchenne Dilated Cardiomyopathy: Cardiac Management from Prevention to Advanced Cardiovascular Therapies

“…While in recent years, many studies have focused on the early identification of myocardial damage and the early start of cardiac therapy capable of slowing cardiac remodeling has been emphasized in DMD, the therapeutic strategy for patients with established DCM has been studied less deeply [ 3 , 16 , 54 ]. Current indication recommends all drugs used for HF treatment.…”

“…Dilated cardiomyopathy (DCM), arrhythmias, and congestive heart failure (HF) represent the most important life-limiting condition in Duchenne muscular dystrophy (DMD) [ 1 , 2 , 3 ].…”

Effectiveness of pharmacological treatments in Duchenne muscular dystrophy: a protocol for a systematic review and meta-analysis

“…However, improvements in the management of DMD have delayed the onset of these events. The use of glucocorticoids and physiotherapy delays the loss of strength and ambulation5 6; early pharmacological therapy for heart failure improves prognosis and survival7; and surgery for scoliosis, respiratory physiotherapy and the use of non-invasive ventilation have enhanced lung capacity, hypercapnia and respiratory failure, increasing survival 8–10. Also, a high interindividual intrinsic variability in the progression of the disease due to the type of mutation in DMD , or to polymorphisms in other genes, is characteristic 11…”