title: Diastolic subclinical primary alterations in Marfan syndrome and Marfan-related disorders.
abstract: BACKGROUND
  The extracellular matrix tissue of the myocardium importantly contributes to left ventricular (LV) performance. Inherited connective tissue disorders related to the FBN1 gene could involve cardiac interstitium resulting in functional abnormalities.
  
  
  OBJECTIVE
  To disclose a primary involvement of myocardium, LV function was studied in 28 patients affected by Marfan syndrome or Marfan-related disorders: 20 Marfan and 8 MASS (Mitral valve prolapse, Myopia, Aortic dilatation, Skeletal involvement, Skin striae) and in 28 healthy, age and gender-matched controls. No valvular regurgitation or any other cardiac alterations were present.
  
  
  METHODS
  Echocardiographic study was performed to investigate LV systolic and diastolic function.
  
  
  RESULTS
  No statistically significant differences were observed between patients and the control group in LV dimensions, systolic function parameters (ejection and shortening fraction), and some diastolic function parameters (E peak, A peak, E/A), while statistically significant differences were found between patients and the control group in LV mass (128.7 +/- 46.6 vs. 83.7 +/- 14.5 g/m2, p<0.008), in isovolumic relaxation time (102.0 +/- 24.0 vs. 80.1 +/- 11.2 ms, p<0.016), and in deceleration time of the E wave (127.5 +/- 19.3 vs. 208.6 +/- 24.5 ms, p<0.001) and the A wave (66.4 +/- 8.2 vs. 87.5 +/- 23.4 ms, p <0.008).
  
  
  CONCLUSIONS
  These data show an unusual pattern of transmitral diastolic flow in which a decreased ventricular compliance and reduced myocardial relaxation coexist. Thus, in Marfan syndrome and in Marfan-related disorders, subclinical diastolic alterations are present independent of valvular disease and might represent an early marker of primary myocardial involvement.
authors.affiliation: Dipartimento di Area Critica Medico Chirurgica, University of Florence, Italy. c.porciani@dfc.unifi.it
authors.forename: Maria Cristinna
authors.initials: MC
authors.lastname: Porciani
authors.forename: Letzia
authors.initials: L
authors.lastname: Giurlani
authors.forename: Andrea
authors.initials: A
authors.lastname: Chelucci
authors.forename: Guglielmina
authors.initials: G
authors.lastname: Pepe
authors.forename: Betti H
authors.initials: BH
authors.lastname: Giusti
authors.forename: Tamara
authors.initials: T
authors.lastname: Brunelli
authors.forename: Monica
authors.initials: M
authors.lastname: Attanasio
authors.forename: Pietro
authors.initials: P
authors.lastname: Martinucci
authors.forename: Rossella
authors.initials: R
authors.lastname: Fattrori
authors.forename: Rosanna
authors.initials: R
authors.lastname: Abbatea
authors.forename: Gian Franco
authors.initials: GF
authors.lastname: Gensini
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D003971:Diastole; D004452:Echocardiography; D005260:Female; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000473:pathology / Q000503:physiopathology*; D009206:Myocardium / Q000473:pathology; D016277:Ventricular Function, Left / Q000502:physiology*