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Updated: Jul 27, 2025

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
09:18

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy

Published on: January 12, 2019

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Cardiovascular Measures of All-Cause Mortality in Duchenne Muscular Dystrophy

Jonathan H Soslow1, Meng Xu2, James C Slaughter2

  • 1Division or Pediatric Cardiology, Department of Pediatrics (J.H.S., K.C., K.G.-D.), Vanderbilt University Medical Center, Nashville, TN.

Circulation. Heart Failure
|June 8, 2023
PubMed

Insights

Key cardiac measures and NT-proBNP predict mortality in Duchenne muscular dystrophy (DMD). These findings can guide the selection of endpoints for DMD cardiovascular clinical trials.

Area of Science:

  • Cardiology
  • Genetics
  • Biomarkers

Background:

  • Cardiopulmonary failure is the primary cause of death in Duchenne muscular dystrophy (DMD).
  • Current cardiovascular therapies for DMD lack FDA-approved cardiac endpoints.
  • Identifying reliable endpoints is crucial for effective therapeutic trial design and powering.

Purpose of the Study:

  • To evaluate the rate of change in cardiac magnetic resonance imaging (CMR) and blood biomarkers in DMD patients.
  • To determine which of these measures associate with all-cause mortality in DMD.

Main Methods:

  • Seventy-eight DMD subjects underwent 211 CMR studies assessing various cardiac functions and tissue characteristics.
  • Blood samples were analyzed for biomarkers including BNP, NT-proBNP, and troponin I.
  • Cox proportional hazard regression modeling was used to analyze the association with all-cause mortality.

Main Results:

  • Fifteen subjects (19%) died during the study period.
  • Several CMR measures, including LV ejection fraction and late gadolinium enhancement, worsened over time and were associated with mortality.
  • N-terminal pro-B-type natriuretic peptide (NT-proBNP) was the sole blood biomarker significantly associated with all-cause mortality.

Conclusions:

  • Left ventricular ejection fraction, indexed LV volumes, circumferential strain, late gadolinium enhancement, and NT-proBNP are significant predictors of all-cause mortality in DMD.
  • These measures represent promising endpoints for cardiovascular therapeutic trials in DMD.
  • The study provides valuable data on the longitudinal changes of CMR and blood biomarkers in DMD.
Abstract

Keywords:
biomarkersbrain natriuretic peptidegadoliniumhumanmagnetic resonance imagingtroponin I

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