Diastolic subclinical primary alterations in Marfan syndrome and Marfan-related disorders.
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.
Porciani
Maria Cristinna
MC
Dipartimento di Area Critica Medico Chirurgica, University of Florence, Italy. c.porciani@dfc.unifi.it
Giurlani
Letzia
L
Chelucci
Andrea
A
Pepe
Guglielmina
G
Giusti
Betti H
BH
Brunelli
Tamara
T
Attanasio
Monica
M
Martinucci
Pietro
P
Fattrori
Rossella
R
Abbatea
Rosanna
R
Gensini
Gian Franco
GF
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*