Myocardial Fibrosis and Left Ventricular Dysfunction in Duchenne Muscular Dystrophy Carriers Using Cardiac Magnetic Resonance Imaging

Sean M. Lang, Svetlana Shugh, Wojciech Mazur, Joshua J. Sticka, Mantosh S. Rattan, John Jefferies, Michael D. Taylor

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

The goal of our study was to characterize the degree of myocardial fibrosis and left ventricular dysfunction in our cohort of Duchenne muscular dystrophy (DMD) carriers using cardiac magnetic resonance imaging (CMR). Seventy percent of males with DMD have mothers who are carriers of the Xp21 mutation. Carrier phenotypic characteristics range from asymptomatic to left ventricular (LV) dysfunction and cardiomyopathy. The true prevalence of cardiac involvement in DMD carriers is unknown. We performed a retrospective observational study. All female DMD carriers who underwent clinical CMR studies at Cincinnati Children’s Hospital Medical Center from December 6, 2006, to August 28, 2013, were evaluated. Patients underwent standard CMR assessment with LV function assessment and late gadolinium enhancement (LGE). In addition, offline feature tracking strain analysis was performed on the basal, mid, and apical short axis. Twenty-two patients were studied, of which 20 underwent adequate testing for myocardial LGE. Four of 22 patients (18 %) were found to have LV dysfunction (ejection fraction <55 %). Seven of 20 DMD carriers (35 %) were found to have LGE. The patients with evidence of LGE had an overall trend to lower absolute deformation parameters; however, this did not meet statistical significance when correcting for multiple comparisons. Our study demonstrates a high rate of LGE as well as LV dysfunction in DMD carriers. Cardiovascular and musculoskeletal symptoms were not statistically different between those with and without cardiac involvement. This study demonstrates the importance of surveillance CMR evaluation of DMD carriers.

Original languageEnglish (US)
Pages (from-to)1495-1501
Number of pages7
JournalPediatric Cardiology
Volume36
Issue number7
DOIs
StatePublished - Oct 22 2015
Externally publishedYes

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Duchenne Muscular Dystrophy
Left Ventricular Dysfunction
Fibrosis
Gadolinium
Magnetic Resonance Imaging
Cardiomyopathies
Left Ventricular Function
Stroke Volume
Observational Studies
Retrospective Studies
Mothers
Mutation

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Cardiology and Cardiovascular Medicine

Cite this

Myocardial Fibrosis and Left Ventricular Dysfunction in Duchenne Muscular Dystrophy Carriers Using Cardiac Magnetic Resonance Imaging. / Lang, Sean M.; Shugh, Svetlana; Mazur, Wojciech; Sticka, Joshua J.; Rattan, Mantosh S.; Jefferies, John; Taylor, Michael D.

In: Pediatric Cardiology, Vol. 36, No. 7, 22.10.2015, p. 1495-1501.

Research output: Contribution to journalArticle

Lang, Sean M. ; Shugh, Svetlana ; Mazur, Wojciech ; Sticka, Joshua J. ; Rattan, Mantosh S. ; Jefferies, John ; Taylor, Michael D. / Myocardial Fibrosis and Left Ventricular Dysfunction in Duchenne Muscular Dystrophy Carriers Using Cardiac Magnetic Resonance Imaging. In: Pediatric Cardiology. 2015 ; Vol. 36, No. 7. pp. 1495-1501.
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