Cardiac Involvement Classification and Therapeutic Management in Patients with Duchenne Muscular Dystrophy

Abstract

Duchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. The clinical picture included peripheral muscle weakness, cardiomyopathy and chronic respiratory insufficiency. In this paper, the authors review cardiac involvement in patients with DMD, propose a cardiac impairment classification and discuss therapeutic management options.

Predictors of early left ventricular systolic dysfunction in duchenne muscular dystrophy patients

“…These findings may justify changes in cardiomyopathy screening strategies in DMD patients. The importance of the early detection of LVSD lies in the fact that early initiation of specific treatments could prevent the progression of cardiomyopathy and, eventually, improve cardiac function as well as prevent serious complications, such as sudden death, which is increasingly frequent among this population . Further studies are required to confirm these findings and to establish their impact on the clinical management of DMD patients.…”

“…Global longitudinal strain (GLS) is the most commonly used strain‐based measure and reflects the longitudinal contraction of the myocardium . Early detection of LVSD by myocardial strain measurements and identification of its predictors may be useful for screening, follow‐up, and the development of therapeutic strategies for DMD patients …”

“…8 Early detection of LVSD by myocardial strain measurements and identification of its predictors may be useful for screening, follow-up, and the development of therapeutic strategies for DMD patients. 3,7,9,10 The aim of this study was to analyze the value of myocardial strain measurements by echocardiography as a main tool for the early detection of LVSD in DMD patients. In addition, clinical features, laboratory data, genetic analyses, and electrocardiographic features were correlated with TTE data to identify predictors of early LVSD.…”

Expanded Diagnostic and Therapeutic Options for Cardiac Disease in Duchenne Muscular Dystrophy

“…With interest we read the article by Fayssoil et al about cardiac involvement classification and therapy in patients with Duchenne muscular dystrophy (DMD) [1]. We agree with the authors that search for cardiac involvement and cardiac therapy are important in the care of patients with DMD, however we want to add some comments and suggestions.…”

Reply‐ Focus on left ventricular systolic and diastolic function in the assisted 6‐minute hand bike cycle test in muscular dystrophy

“…Given the relatively high prevalence of echocardiographic abnormalities in DMD patients, the low number of DMD participants reporting either cardiac dysfunction, or currently using cardiac medication in our study, is initially surprising. It has however been speculated that as adults with DMD have very limited mobility, cardiomyopathy related symptoms are often absent . The fact that none of our DMD participants are currently medicated with either beta‐blockers or ACE (angiotensin‐converting enzyme) inhibitors is unlikely to influence the data presented from the A6MCT, as none of those with DMD have sufficient strength to produce a metabolic response during the hand cycling, and remained largely passive to the movement.…”