Cargando…
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: 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-f...
Autores principales: | , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406686/ https://www.ncbi.nlm.nih.gov/pubmed/25901601 http://dx.doi.org/10.1371/journal.pone.0124112 |
_version_ | 1782367810792456192 |
---|---|
author | Abd El Rahman, Mohamed Haase, Denise Rentzsch, Axel Olchvary, Julia Schäfers, Hans-Joachim Henn, Wolfram Wagenpfeil, Stefan Abdul-Khaliq, Hashim |
author_facet | Abd El Rahman, Mohamed Haase, Denise Rentzsch, Axel Olchvary, Julia Schäfers, Hans-Joachim Henn, Wolfram Wagenpfeil, Stefan Abdul-Khaliq, Hashim |
author_sort | Abd El Rahman, Mohamed |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-4406686 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-44066862015-05-07 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 Haase, Denise Rentzsch, Axel Olchvary, Julia Schäfers, Hans-Joachim Henn, Wolfram Wagenpfeil, Stefan Abdul-Khaliq, Hashim PLoS One Research Article 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. Public Library of Science 2015-04-22 /pmc/articles/PMC4406686/ /pubmed/25901601 http://dx.doi.org/10.1371/journal.pone.0124112 Text en © 2015 Abd El Rahman et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited. |
spellingShingle | Research Article Abd El Rahman, Mohamed Haase, Denise Rentzsch, Axel Olchvary, Julia Schäfers, Hans-Joachim Henn, Wolfram Wagenpfeil, Stefan Abdul-Khaliq, Hashim 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 |
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 |
title_full | 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 |
title_fullStr | 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 |
title_full_unstemmed | 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 |
title_short | 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 |
title_sort | 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 |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406686/ https://www.ncbi.nlm.nih.gov/pubmed/25901601 http://dx.doi.org/10.1371/journal.pone.0124112 |
work_keys_str_mv | AT abdelrahmanmohamed leftventricularsystolicdysfunctioninasymptomaticmarfansyndromepatientsisrelatedtotheseverityofgenemutationinsightsfromthenovelthreedimensionalspeckletrackingechocardiography AT haasedenise leftventricularsystolicdysfunctioninasymptomaticmarfansyndromepatientsisrelatedtotheseverityofgenemutationinsightsfromthenovelthreedimensionalspeckletrackingechocardiography AT rentzschaxel leftventricularsystolicdysfunctioninasymptomaticmarfansyndromepatientsisrelatedtotheseverityofgenemutationinsightsfromthenovelthreedimensionalspeckletrackingechocardiography AT olchvaryjulia leftventricularsystolicdysfunctioninasymptomaticmarfansyndromepatientsisrelatedtotheseverityofgenemutationinsightsfromthenovelthreedimensionalspeckletrackingechocardiography AT schafershansjoachim leftventricularsystolicdysfunctioninasymptomaticmarfansyndromepatientsisrelatedtotheseverityofgenemutationinsightsfromthenovelthreedimensionalspeckletrackingechocardiography AT hennwolfram leftventricularsystolicdysfunctioninasymptomaticmarfansyndromepatientsisrelatedtotheseverityofgenemutationinsightsfromthenovelthreedimensionalspeckletrackingechocardiography AT wagenpfeilstefan leftventricularsystolicdysfunctioninasymptomaticmarfansyndromepatientsisrelatedtotheseverityofgenemutationinsightsfromthenovelthreedimensionalspeckletrackingechocardiography AT abdulkhaliqhashim leftventricularsystolicdysfunctioninasymptomaticmarfansyndromepatientsisrelatedtotheseverityofgenemutationinsightsfromthenovelthreedimensionalspeckletrackingechocardiography |