Outcomes of Cardiac Involvement in Patients with Late-Stage Duchenne Muscular Dystrophy under Management in the Pulmonary Rehabilitation Center of a Tertiary Referral Hospital

Abstract

Objectives: The purpose of this study was to investigate the clinical outcome as well as the sequential changes of cardiac function in late-stage Duchenne muscular dystrophy (DMD) patients by 2-dimensional echocardiography. Methods: A total of 31 individuals (initial age: 21.6 ± 5.0 years, range: 15–35 years) with late-stage DMD (Swinyard-Deaver’s stage 7 or 8) were enrolled. All of these patients had respiratory insufficiency and were on ventilator support. Sequential echocardiographic data were collected over at least 3 years. Repeated measures analysis of variance was used to compare changes in left ventricular ejection fraction (LVEF) over time. Results: The sequential change in the mean LVEF showed no significant differences with initial, 1-, 2-, and 3-year follow-up LVEFs which were 42.2, 42.9, 43.8 and 42.6%, respectively (p = 0.320). In terms of the clinical outcome, all but 1 patient survived during the follow-up period of 46.5 ± 9.1 months. Conclusions: The cardiac function in late-stage DMD patients showed a stabilization of LVEF on adequate ventilatory support and optimal cardiac medication therapy until their mid-30s. In addition, considering the favorable clinical outcome in our study, the process of cardiac involvement in late-stage DMD may demonstrate that in some patients it is nonprogressive.

Cardiac Management of Ventilator-Assisted Individuals with Duchenne Muscular Dystrophy

“…10 This is consistent with an observational study of teenagers and young adults (mean age 22 years) receiving ventilatory support 17 in whom no deterioration in LV function over 3 years was observed amongst patients with reduced LV function on pharmacological treatment (ACE inhibitors or ARB). 17 In contrast to clinical reports in which nearly all adult patients with DMD develop cardiomyopathy, 7,10,22 31% (5 of the 16) of our DMD patients were found to have normal LV function (LVEF >60%) despite their being older (mean age 30 (7) years). This is supported by the data from Kwon el al.…”

“…who noted amongst 15 of the 31 young adults (mean age 22 [5] years) receiving ventilatory support that the LVEF was >50%. 17 It is therefore conceivable that ventilatory support delays the progression of cardiomyopathy especially since respiratory failure contributes to the cardiac morbidity and mortality in this population. 23,24 Our data add to this emerging literature showing that cardiomyopathy, previously described as inevitable, 10 may not be universal even in a population with a mean age in the 4th decade.…”

“…10,[12][13][14] Patients are now living into their 4th and 5th decades but to date there is little information about this group. One recent observational study, involving teenagers and young adults (mean age of 22 years), requiring ventilatory support reported a lower prevalence and progression of cardiomyopathy compared to other studies 17 raising a question regarding the common assumption that it was almost inevitable.…”

Current Concepts in the Management of Duchenne Muscular Dystrophy

“…The incidence of cardiomyopathy in DMD increases with age, affecting 30 % of patients by 14 years of age, 50 % of patients by 18 years of age, and up to 90 % of older patients [31]. Given advances in noninvasive and invasive ventilator support leading to prolonged survival in DMD, the effective management of cardiomyopathy has become more crucial.…”

Presence or Absence of Cardiac Disease in Duchenne Muscular Dystrophy

“…In an observational study on 31 DMD patients under non-invasive ventilatory support with a mean age of 22 years at study entry published by Kwon et al [19] in this issue of Cardiology , echocardiographic parameters hardly changed during the 3-year follow-up. Cardiac function remained stable in patients in whom cardiac medication remained unchanged over the 3 years (n = 28) as well as in those in whom it had changed (n = 3).…”