Left ventricular systolic dysfunction in asymptomatic Marfan syndrome patients is related to the severity of gene mutation. Insight from the novel three dimensional speckle tracking echocardiography (3D-STE)

Objective: To evaluate among asymptomatic Marfan syndrome (MFS) patients the relationship between the types of fibrillin-1 (FBN1) gene mutation and possible altered left ventricular (LV) function assessed by three-dimensional speckle tracking echocardiography (3D-STE).

Methods: Forty-five MFS patients (mean age 24 ± 15 years) and 40 age-matched healthy controls were included in the study. Genetic evaluation for the FBN1 gene was carried on 32 MFS patients. Mild gene mutation (n=15, 47%) was considered when the mutation resulted nearly normally functioning protein, while mutations resulting in an abnormally function protein where considered to be severe (n=17, 53%). Blinded from the genetic testing, all patients and controls underwent 3D-STE to evaluate LV function.

Results: When compared to controls, patients had significantly reduced 3D-STE derived LV ejection fraction (EF, 57.43±7.51 vs. 62.69±4.76%, p=0.0001), mean LV longitudinal strain (LS, 14.85±2.89 vs. 17.90±2.01%, p=0.0001), mean LV circumferential strain (CS, 13.93±2.81 vs. 16.82±2.17%, p=0.0001) and mean LV area Strain (AS, 25.76±4.43 vs. 30.51±2.61%, p=0.0001). Apart from the mean LV LS all these parameters were significantly more reduced among patients with severe gene mutation compared to 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), mean CS (p=0.005) and mean AS (p=0.03).

Conclusions: In asymptomatic MFS patients latent LV dysfunction can be detected using 3D STE which was related the severity of FBN1 mutation.