title: Myocardial late gadolinium enhancement is associated with clinical presentation in Duchenne muscular dystrophy carriers.
abstract: BACKGROUND
  Duchenne muscular dystrophy (DMD) is an X-linked recessive disease that occurs in males leading to immobility and death in early adulthood. Female carriers of DMD are generally asymptomatic, yet frequently develop dilated cardiomyopathy. This study aims to detect early cardiac manifestation in DMD using cardiovascular magnetic resonance (CMR) and to evaluate its association with clinical symptoms.
  
  
  METHODS
  Clinical assessment of DMD carriers included six minutes walk tests (6MWT), blood analysis, electrocardiography, echocardiography, and CMR using FLASH sequences to detect late gadolinium enhancement (LGE). T1-mapping using the Modified Look-Locker Inversion recovery (MOLLI) sequence was performed quantify extracellular volume (ECV).
  
  
  RESULTS
  Of 20 carriers (age 39.47 ± 12.96 years) 17 (89.5 %) were clinically asymptomatic. ECV was mildly elevated (29.79 ± 2.92 %) and LGE was detected in nine cases (45 %). LGE positive carriers had lower left ventricular ejection fraction in CMR (64.36 ± 5.78 vs. 56.67 ± 6.89 %, p = 0.014), higher bothCK (629.89 ± 317.48 vs. 256.18 ± 109.10 U/l, p = 0.002) and CK-MB (22.13 ± 5.25 vs. 12.11 ± 2.21 U/l, p = 0.001), as well as shorter walking distances during the 6MWT (432.44 ± 96.72 vs. 514.91 ± 66.80 m, p = 0.037). 90.9 % of subjects without LGE had normal pro-BNP, whereas in 66.7 % of those presenting LGE pro-BNP was elevated (p = 0.027). All individuals without LGE were in the NYHA class I, whereas all those in NYHA classes II and III showed positive for LGE (p = 0.066).
  
  
  CONCLUSIONS
  Myocardial involvement shown as LGE in CMR occurs in a substantial number of DMD carriers; it is associated with clinical and morphometric signs of incipient heart failure. LGE is thus a sensitive parameter for the early diagnosis of cardiomyopathy in DMD carriers.
  
  
  BACKGROUND
  Clinicaltrials.gov, NCT01712152 Trial registration: October 19, 2012. First patient enrolled: September 27, 2012 (retrospectively registered).
authors.affiliation: 2nd Medical Department, Krankenanstalt Rudolfstiftung, Vienna, Austria. paul.wexberg@svagw.at.|SVA-Gesundheitszentrum, Hartmanngasse 2b, Vienna, A-1051, Austria. paul.wexberg@svagw.at.
authors.forename: Paul
authors.initials: P
authors.lastname: Wexberg
authors.affiliation: 2nd Medical Department, Krankenanstalt Rudolfstiftung, Vienna, Austria.
authors.forename: Marion
authors.initials: M
authors.lastname: Avanzini
authors.affiliation: Division of Cardiology, Department Of Internal Medicine II, Medical University of Vienna, Vienna, Austria.
authors.forename: Julia
authors.initials: J
authors.lastname: Mascherbauer
authors.affiliation: Division of Cardiology, Department Of Internal Medicine II, Medical University of Vienna, Vienna, Austria.
authors.forename: Stefan
authors.initials: S
authors.lastname: Pfaffenberger
authors.affiliation: 2nd Medical Department, Krankenanstalt Rudolfstiftung, Vienna, Austria.
authors.forename: Birgit
authors.initials: B
authors.lastname: Freudenthaler
authors.affiliation: Neuromuscular Research Department, Center of Anatomy & Cell Biology, Medical University of Vienna, Vienna, Austria.
authors.forename: Reginald
authors.initials: R
authors.lastname: Bittner
authors.affiliation: Gottfried von Preyer Children Hospital, Vienna, Austria.
authors.forename: Günther
authors.initials: G
authors.lastname: Bernert
authors.affiliation: 2nd Medical Department, Krankenanstalt Rudolfstiftung, Vienna, Austria.
authors.forename: Franz
authors.initials: F
authors.lastname: Weidinger
keywords: Cardiomyopathy; Cardiovascular magnetic resonance; Duchenne muscular dystrophy; T1-mapping