Current Practices in Treating Cardiomyopathy and Heart Failure in Duchenne Muscular Dystrophy (DMD): Understanding Care Practices in Order to Optimize DMD Heart Failure Through ACTION

Abstract

Cardiac disease has emerged as a leading cause of mortality in Duchenne muscular dystrophy in the current era. This survey sought to identify the diagnostic and therapeutic approach to DMD among pediatric cardiologists in Advanced Cardiac Therapies Improving Outcomes Network. Pediatric cardiology providers within ACTION (a multi-center pediatric heart failure learning network) were surveyed regarding their approaches to cardiac care in DMD. Thirty-one providers from 23 centers responded. Cardiac MRI and Holter monitoring are routinely obtained, but the frequency of use and indications for ordering these tests varied widely. Angiotensin converting enzyme inhibitor and aldosterone antagonist are generally initiated prior to onset of systolic dysfunction, while the indications for initiating beta-blocker therapy vary more widely. Seventeen (55%) providers report their center has placed an implantable cardioverter defibrillator in at least 1 DMD patient, while 11 providers (35%) would not place an ICD for primary prevention in a DMD patient. Twenty-three providers (74%) would consider placement of a ventricular assist device (VAD) as destination therapy ( n = 23, 74%) and three providers (10%) would consider a VAD only as bridge to transplant. Five providers (16%) would not consider VAD at their institution. Cardiac diagnostic and therapeutic approaches vary among ACTION centers, with notable variation present regarding the use of advanced therapies (ICD and VAD). The network is currently working to harmonize medical practices and optimize clinical care in an era of rapidly evolving outcomes and cardiac/skeletal muscle therapies.

Mineralocorticoid Receptor Signaling in the Inflammatory Skeletal Muscle Microenvironments of Muscular Dystrophy and Acute Injury

“…Clinically, both non-specific and specific MRAs, spironolactone and eplerenone respectively, inhibit the decline of left ventricular circumferential strain and ejection fraction in DMD patients to a similar degree ( Raman et al, 2015 ; Raman et al, 2019 ). Based on these studies, MRAs are now given early in DMD cardiomyopathy progression ( Villa et al, 2022 ). However, of great concern for clinical translation, simultaneous treatment of dystrophic mice with glucocorticoids and MRAs reduces MRA efficacy in both cardiac and skeletal muscle due to competition for MR binding ( Janssen et al, 2014 ).…”

Angiotensin receptor‐neprilysin inhibitor in symptomatic patients with Duchenne dilated cardiomyopathy: A primetime

“…It is not known whether this might be applicable to DMD patients with HF, providing additional benefits in this particular setting. In a recent survey on the therapeutic approaches to DMD, ARNi has been considered only by 23% of providers when EF was below 40%, highlighting a great variability in terms of therapeutic approaches and the need for more harmonized practices 9 . Our aim has been to investigate the efficacy and tolerability of ARNi compared with ACEi in DMD patients.…”

Duchenne muscular dystrophy and dilated cardiomyopathy with deletion of exon 45 and 49

“…Muscle disease in DMD-carriers varies significantly in clinical presentation, from creatine-kinase (CK)-elevation only [10] , exercise intolerance [11] , to blatant muscle weakness and wasting [11] . Cardiac disease also varies significantly across individual DMD-carriers, and may include ECG abnormalities (including a wide variety of rhythm and voltage abnormalities, including sinus tachycardia, short PR intervals, and deep and narrow Q waves) [12] , systolic dysfunction, heart failure and myocardial fibrosis [13] . In the index case, the patient presented with dilated cardiomyopathy.…”