title: Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers.
abstract: BACKGROUND
  This study was designed to assess whether cardiovascular magnetic resonance imaging (CMR) in Duchenne muscular dystrophy carriers (DMDc) may index any cell milieu elements of LV dysfunction and whether this cardiac phenotype may be related to genotype. The null hypothesis was that myocardial fibrosis, assessed by late gadolinium enhancement (LGE), might be similarly accounted for in DMDc and gender and age-matched controls.
  
  
  METHODS
  Thirty DMDc patients had CMR and genotyping with 37 gender and age-matched controls. Systolic and diastolic LV function was assessed by 2D-echocardiography.
  
  
  RESULTS
  Absolute and percent LGE were higher in muscular symptomatic (sym) than asymptomatic (asy) DMDc (1.77 ± 0.27 vs 0.76 ± 0.17 ml; F = 19.6, p < 0.0001 and 1.86 ± 0.26% vs 0.68 ± 0.17%, F = 22.1, p < 0.0001, respectively). There was no correlation between LGE and age. LGE was seen most frequently in segments 5 and 6; segment 5 was involved in all asy-DMDc. Subepicardial LGE predominated, compared to the mid-myocardial one (11 out of 14 DMDc). LGE was absent in the subendocardium. No correlations were seen between genotyping (type of mutation, gene region and protein domain), confined to the exon's study, and cardiac phenotype.
  
  
  CONCLUSIONS
  A typical myocardial LGE-pattern location (LV segments 5 and 6) was a common finding in DMDc. LGE was more frequently subepicardial plus midmyocardial in sym-DMDc, with normal LV systolic and diastolic function. No genotype-phenothype correlation was found.
authors.affiliation: Center for Neuromuscular Disease, Uildm, Prospero Santacroce St, 5, Rome 00167, Italy. giglio.echo@libero.it.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Giglio
authors.forename: Paolo Emilio
authors.initials: PE
authors.lastname: Puddu
authors.forename: Giovanni
authors.initials: G
authors.lastname: Camastra
authors.forename: Stefano
authors.initials: S
authors.lastname: Sbarbati
authors.forename: Sabino Walter
authors.initials: SW
authors.lastname: Della Sala
authors.forename: Alessandra
authors.initials: A
authors.lastname: Ferlini
authors.forename: Francesca
authors.initials: F
authors.lastname: Gualandi
authors.forename: Enzo
authors.initials: E
authors.lastname: Ricci
authors.forename: Federico
authors.initials: F
authors.lastname: Sciarra
authors.forename: Gerardo
authors.initials: G
authors.lastname: Ansalone
authors.forename: Marco
authors.initials: M
authors.lastname: Di Gennaro
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D003287:Contrast Media; D003430:Cross-Sectional Studies; D005260:Female; D005355:Fibrosis; D019786:Gadolinium DTPA; D020022:Genetic Predisposition to Disease; D006352:Heart Ventricles / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D019028:Magnetic Resonance Imaging, Cine; D008297:Male; D008875:Middle Aged; D020388:Muscular Dystrophy, Duchenne / Q000150:complications* / Q000235:genetics; D009206:Myocardium / Q000473:pathology*; D010641:Phenotype; D011237:Predictive Value of Tests; D018487:Ventricular Dysfunction, Left / Q000175:diagnosis* / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D016277:Ventricular Function, Left; D055815:Young Adult
chemical_list: D003287:Contrast Media; D019786:Gadolinium DTPA