Dataset Information

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).

Methods and 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.

SUBMITTER: Abd El Rahman M

PROVIDER: S-EPMC4406686 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Publications

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.

Abd El Rahman Mohamed M Haase Denise D Rentzsch Axel A Olchvary Julia J Schäfers Hans-Joachim HJ Henn Wolfram W Wagenpfeil Stefan S Abdul-Khaliq Hashim H

PloS one 20150422 4

<h4>Background</h4>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).<h4>Methods and results</h4>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% ...[more]

PMID: 25901601

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Project description:AimsThe aim of the study was to evaluate left ventricular (LV) remodeling and systolic function using two-dimensional speckle tracking echocardiographic (2D STE) imaging in children at a long-term (more than 36 months, 107.5±57.8 months) after balloon valvuloplasty for aortic stenosis (BAV).Methods and results40 patients (mean age 9,68 years, 75% male) after BAV and 62 control subjects matched to the age and heart rate were prospectively evaluated. The 2D STE assessment of LV longitudinal and circumferential strain and strain rate was performed. Left ventricular eccentric hypertrophy (LVEH) was diagnosed in 75% of patients in the study group. Left ventricular ejection fraction (LVEF) was normal in all patients. In study group, global longitudinal strain (GLS), global longitudinal strain rate (GLSr) were significantly lower compared with the controls: GLS (-19.7±2.22% vs. -22.3±1.5%, P< 0.001), GLSr (-0.89±0.15/s vs. -1.04 ±0.12/s, P < 0.001). Regional (basal, middle and apical segments) strain and strain rate were also lower compared with control group. Global circumferential strain (GCS), global circumferential strain rate (GCSr) as well as regional (basal, middle and apical segments) strain and strain rate were normal. Multivariable logistic regression analysis included: instantaneous peak systolic Doppler gradient across aortic valve (PGmax), grade of aortic regurgitation (AR), left ventricular mass index (LVMI), left ventricular relative wall thickness (LVRWT), left ventricular end-diastolic diameter (LVEDd), peak systolic mitral annular velocity of the septal and lateral corner (S'spt, S'lat), LVEF before BAV and time after BAV and showed that the only predictor of reduced GLS was LV eccentric hypertrophy [odds ratio 6.9; (95% CI: 1.37-12.5), P = 0.045].ConclusionPatients at long-term observation after BAV present the subclinical LV systolic impairment, which is associated with the presence of its remodeling. Longitudinal deformation is the most sensitive marker of LV systolic impairment in this group of patients.

Project description:BackgroundLong-term RV pacing leads to ventricular dyssynchrony, in the form of LBBB-like morphology, with subsequent detrimental effects on LV structure and function. Three-dimensional echocardiography allowed early detection of volumetric changes associated with PICMP and provided more accurate assessment of mechanical dyssynchrony. Speckle tracking strain is able to identify LV dysfunction even before any reduction in LVEF. Our aim was to study pacing effects on LV function and hemodynamics using 3D echo and speckle tracking strain.ResultsThis was a prospective study of 175 consecutive patients without structural heart disease (LVEF > 50%) presented for permanent pacing. Full-volume 3D echocardiography done before implantation, 1 week, and 6 months together with GLS. Patients were followed for 6 months to detect incidence of PIVD (defined as reduction in LVEF > 10% but still above 50%) and PICMP (defined as decrease in LVEF by 10% from baseline in absence of other known causes of cardiomyopathy resulting in EF< 50%). PIVD and PICMP predictors and risk factors were analyzed. Only 50 patients met study criteria. Twenty-five (50%) patients developed LV systolic dysfunction; of these, 19 (38%) developed PIVD and 6 (12%) developed PICMP. Pre-implantation GLS was significantly lower in the 6 patients who subsequently developed PICMP, compared to those who developed PIVD and the preserved EF group (mean GLS - 15.50 vs. - 21.0, - 20.0 respectively; p = 0.005, 0.033, respectively). At 1 week, GLS was significantly lower in the 25 patients who subsequently developed PIVD, compared to those who did not (GLS - 13.0 vs. - 18.0, respectively; p = 0.002). A reduction of baseline GLS by 15% or more at 1 week was associated with the development of PIVD and PICMP (p = < 0.001). A wider native QRS complex was associated with PIVD and PICMP (p = 0.008, 0.018, respectively). The other predictors were found non-significant.ConclusionPICMP may be more common than previously reported and it may occur shortly after implantation. Pre-implantation GLS is a sensitive parameter for PICMP. One-week GLS, pre-implantation QRS complex width are early predictors for PICMP and PIVD before any reduction in EF.

Dataset Information

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.

Background

Methods and results

Conclusions

Publications

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.

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