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. 2023 Sep 18;9(5):00176-2023.
doi: 10.1183/23120541.00176-2023. eCollection 2023 Sep.

Cardiomyopathy as cause of death in Duchenne muscular dystrophy: a longitudinal observational study

Annabel Lechner  1 , Joël J Herzig  1 , Jacqueline G Kientsch  1 , Malcolm Kohler  1   2 , Konrad E Bloch  1   2 , Silvia Ulrich  1 , Esther I Schwarz  1   2
Affiliations

Cardiomyopathy as cause of death in Duchenne muscular dystrophy: a longitudinal observational study

Annabel Lechner et al. ERJ Open Res. .

Abstract

Background: Cardiomyopathy has become an important life-limiting factor since survival in Duchenne muscular dystrophy (DMD) has greatly increased with long-term ventilation and cough assistance. The aim of this study was to investigate the association between impaired left ventricular ejection fraction (LVEF) and survival.

Methods: In a >20-year observational study in patients with DMD (age ≥16 years) with at least three echocardiograms, the association between LVEF and survival and time to cardiac or non-cardiac death was investigated using Kaplan-Meier survival analysis and Cox regression (for LVEF).

Results: In 67 DMD patients (430 echocardiograms), the decrease in LVEF over a mean±sd follow-up period of 9.1±5.1 years was -10.0±13.9% absolute, but LVEF progression varied widely. 84% were receiving an angiotensin-converting enzyme inhibitor and 54% a β-blocker at last follow-up with an LVEF of 37.5±12.4% at that time-point. Median (interquartile range) survival was 33 (25-40) years. 28 out of 67 (42%) of the cohort had died and LVEF was a significant negative predictor of survival (hazard ratio 0.95 (95% CI 0.91-0.99); p<0.007). Those who died of cardiac death (53% of known causes of death) had significantly lower LVEF at the time of death (LVEF -11.0% (95% CI -21.1- -0.9%); p=0.035) compared with non-cardiac death and tended to die at a younger age.

Conclusions: Cardiomyopathy with systolic heart failure is the leading cause of death and lower LVEF is an independent predictor of mortality at younger ages in patients with DMD. Patients with DMD appear to be undertreated with respect to heart failure drug therapy.

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Conflict of interest statement

Conflicts of interest: The authors have no conflicts of interest to declare.

Figures

FIGURE 1
FIGURE 1
Scatter plot of difference in left ventricular ejection fraction (LVEF) over time in years from first measurement (best fitted line and 95% confidence interval).
FIGURE 2
FIGURE 2
Course of left ventricular ejection fraction (LVEF) over time shown between the age of 16 and 33 years (best fitted line and 95% confidence interval).
FIGURE 3
FIGURE 3
Individual course of left ventricular ejection fraction (LVEF) over time shown between the age of 16 and 35 years.
FIGURE 4
FIGURE 4
Kaplan–Meier survival estimate with 95% confidence interval of 67 patients at risk (shown from 16 to 48 years). Median (interquartile range) survival was 33 (29–40) years.
FIGURE 5
FIGURE 5
Time-to-event curves based on 17 out of 28 decedents with known cause of death, comparing those who died from a cardiac cause with those who died from a non-cardiac cause.
FIGURE 6
FIGURE 6
Course of left ventricular ejection fraction (LVEF) over age per number of heart failure drugs.
See this image and copyright information in PMC

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