title: Left ventricular systolic dysfunction in asymptomatic Marfan syndrome patients is related to the severity of gene mutation: insights from the novel three dimensional speckle tracking echocardiography.
abstract: BACKGROUND
  In asymptomatic Marfan syndrome (MFS) patients we evaluated the relationship between the types of fibrillin-1 (FBN1) gene mutation and possible altered left ventricular (LV) function as assessed by three-dimensional speckle tracking echocardiography (3D-STE).
  
  
  RESULTS
  Forty-five MFS patients (mean age 24 ± 15 years) and 40 age-matched healthy controls were studied. Genetic evaluation for the FBN1 gene was carried on 32 MFS patients. Gene mutation (n = 15, 47%) was classified as mild when the mutation resulted in nearly normally functioning protein, while mutations resulting in abnormally function protein were considered to be severe (n = 17, 53%). All patients and controls underwent 3D-STE for evaluation of LV function by an echocardiographer blinded to the results of the genetic testing. Compared to controls, MFS patients had significantly lower 3D-STE derived LV ejection fraction (EF, 57.43 ± 7.51 vs. 62.69 ± 4.76%, p = 0.0001), global LV longitudinal strain (LS, 14.85 ± 2.89 vs. 17.90 ± 2.01%, p = 0.0001), global LV circumferential strain (CS, 13.93 ± 2.81 vs. 16.82 ± 2.17%, p = 0.0001) and global LV area strain (AS, 25.76 ± 4.43 vs. 30.51 ± 2.61%, p = 0.0001). Apart from the global LV LS all these parameters were significantly lower in patients with severe gene mutation than in those with mild mutation (p < 0.05). In the multivariate linear regression analysis only the type of mutation had a significant influence on the 3D-STE derived LVEF (p = 0.017), global CS (p = 0.005) and global AS (p = 0.03).
  
  
  CONCLUSIONS
  In asymptomatic MFS patients latent LV dysfunction can be detected using 3D STE. The LV dysfunction is mainly related to the severity of gene mutation, suggesting possible primary cardiomyopathy in MFS patients.
authors.affiliation: Department of Pediatric Cardiology, Saarland University Hospital, Homburg/Saar, Germany; Department of Pediatric Cardiology, Cairo University, Cairo, Egypt.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Abd El Rahman
authors.affiliation: Department of Pediatric Cardiology, Saarland University Hospital, Homburg/Saar, Germany.
authors.forename: Denise
authors.initials: D
authors.lastname: Haase
authors.affiliation: Department of Pediatric Cardiology, Saarland University Hospital, Homburg/Saar, Germany.
authors.forename: Axel
authors.initials: A
authors.lastname: Rentzsch
authors.affiliation: Department of Pediatric Cardiology, Saarland University Hospital, Homburg/Saar, Germany.
authors.forename: Julia
authors.initials: J
authors.lastname: Olchvary
authors.affiliation: Department of Thoracic and Cardiovascular Surgery, Saarland University Hospital, Homburg/Saar, Germany.
authors.forename: Hans-Joachim
authors.initials: HJ
authors.lastname: Schäfers
authors.affiliation: Department of Human Genetics, Saarland University Hospital, Homburg/Saar, Germany.
authors.forename: Wolfram
authors.initials: W
authors.lastname: Henn
authors.affiliation: Institute of Medical Biometry, Epidemiology and Medical Informatics, Saarland University Hospital, Homburg/Saar, Germany.
authors.forename: Stefan
authors.initials: S
authors.lastname: Wagenpfeil
authors.affiliation: Department of Pediatric Cardiology, Saarland University Hospital, Homburg/Saar, Germany.
authors.forename: Hashim
authors.initials: H
authors.lastname: Abdul-Khaliq
mesh_terms: D000293:Adolescent; D000328:Adult; D058070:Asymptomatic Diseases; D009202:Cardiomyopathies / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D002648:Child; D019560:Echocardiography, Three-Dimensional; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D015870:Gene Expression; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D008840:Microfilament Proteins / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D009154:Mutation; D012044:Regression Analysis; D013318:Stroke Volume; D018487:Ventricular Dysfunction, Left / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines