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Elevated Myocardial Extracellular Volume Fraction in Duchenne Muscular Dystrophy

James J Starc1, Ryan A Moore2, Mantosh S Rattan3

  • 1Division of Pediatric Cardiology, Mount Sinai Medical Center, One Gustave L. Levy Place, Post Box 1201, New York, NY, 10029, USA. james.starc@mssm.edu.

Pediatric Cardiology
|August 2, 2017
PubMed

Insights

Duchenne muscular dystrophy (DMD) patients show higher myocardial fibrosis (ECV) than controls, detected via cardiovascular magnetic resonance (CMR). This ECV marker correlates with impaired heart function, aiding early cardiac involvement detection in DMD.

Area of Science:

  • Cardiology
  • Genetics
  • Biomedical Imaging

Background:

  • Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder associated with life-threatening cardiomyopathy.
  • Myocardial fibrosis is a key feature of DMD cardiomyopathy, leading to heart failure and arrhythmias.
  • Early detection of cardiac involvement in DMD is crucial for improved patient outcomes.

Purpose of the Study:

  • To quantify myocardial extracellular volume (ECV) in pediatric patients with DMD using cardiovascular magnetic resonance (CMR) T1 mapping.
  • To correlate ECV measurements with left ventricular (LV) function metrics in DMD patients.
  • To assess the utility of ECV as a non-invasive marker for cardiac involvement in DMD.

Main Methods:

  • Retrospective analysis of CMR data from 47 pediatric DMD patients.
  • Quantification of global myocardial ECV using T1 mapping.
  • Correlation analysis between ECV and LV function parameters (ejection fraction, end-diastolic volume) and late gadolinium enhancement (LGE).

Main Results:

  • Pediatric DMD patients exhibited significantly higher global myocardial ECV (29 ± 6%) compared to published normal values (24 ± 2%).
  • Elevated ECV levels correlated with reduced left ventricular ejection fraction (r = -0.46) and increased indexed LV end-diastolic volume (r = 0.41).
  • No significant difference in ECV was observed between DMD patients with and without LGE (p=0.0717).

Conclusions:

  • CMR T1 mapping is a feasible method for ECV quantification in DMD patients.
  • Global myocardial ECV is elevated in pediatric DMD and correlates with impaired LV function.
  • ECV serves as a valuable non-invasive tool for assessing cardiac involvement and guiding management in DMD.

Keywords:
Duchenne muscular dystrophy cardiomyopathyHeart failureLate gadolinium enhancementMagnetic resonance imagingMyocardial fibrosis

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