A current approach to heart failure in Duchenne muscular dystrophy

Abstract

Duchenne muscular dystrophy (DMD) is a genetic, progressive neuromuscular condition that is marked by the long-term muscle deterioration with significant implications of pulmonary and cardiac dysfunction. As such, end-stage heart failure (HF) in DMD is increasingly becoming the main cause of death in this population. The early detection of cardiomyopathy is often challenging, due to a long subclinical phase of ventricular dysfunction and difficulties in assessment of cardiovascular symptomatology in these patients who usually loose ambulation during the early adolescence. However, an early diagnosis of cardiovascular disease in patients with DMD is decisive since it allows a timely initiation of cardioprotective therapies that can mitigate HF symptoms and delay detrimental heart muscle remodelling. Echocardiography and ECG are standardly used for screening and detection of cardiovascular abnormalities in these patients, although these tools are not always adequate to detect an early, clinically asymptomatic phases of disease progression. In this regard, cardiovascular magnetic resonance (CMR) with late gadolinium enhancement is emerging as a promising method for the detection of early cardiac involvement in patients with DMD. The early detection of cardiac dysfunction allows the therapeutic institution of various classes of drugs such as corticosteroids, beta-blockers, ACE inhibitors, antimineralocorticoid diuretics and novel pharmacological and surgical solutions in the multimodal and multidisciplinary care for this group of patients. This review will focus on these challenges and available options for HF in patients with DMD.

Comment on: ‘Implantation of a left ventricular assist device to provide long term support for end‐stage Duchenne muscular dystrophy‐associated cardiomyopathy’ by Stoller et al.

“…The authors addressed an important issue: despite increased awareness among clinicians, heart failure (HF) is increasingly becoming the leading cause of death in DMD patients 2. Unfortunately, none of the available therapeutic options address the progressive deterioration of ventricular performance 3. Moreover, DMD has traditionally been considered as a relative contraindication for cardiac transplantation.…”

Critical evaluation of the treatment for duchenne muscular dystrophy during the transition from adolescence to adulthood

“…Stretching of the lower extremities should also continue after the period of ambulation and into adulthood because this can provide relief from symptoms of stiffness and can improve pain. In addition to stretching, patients can benefit from therapy in a pool with assistance and support for the head and the neck, where the buoyancy provides a degree of freedom of movement …”

“…These issues are as important as the physical ones just described, and include the need for quality care, personal independence, educational and employment opportunities, meaningful relationships, and sexual activity. A social worker is also an integral part of the multidisciplinary team …”

“…In addition to stretching, patients can benefit from therapy in a pool with assistance and support for the head and the neck, where the buoyancy provides a degree of freedom of movement. 2 Second, the authors addressed therapy for heart failure but not cardiac arrhythmias. If ejection fraction is <35%, or if symptomatic ventricular arrhythmias occur, the risks and benefits of implantable cardioverter-defibrillator use should be considered and discussed with the patient and family.…”

“…A social worker is also an integral part of the multidisciplinary team. 2,3 Development of outcome measures to monitor progression in adult DMD is fundamental. To ensure good quality of life, the transition of care from childhood and adolescence to adulthood needs timely planning, to permit a smooth transition.…”