Echocardiographic features of Fabry cardiomyopathy—Comparison with hypertrophy‐matched sarcomeric hypertrophic cardiomyopathy.

Background: The concept of "red flags" has been particularly useful in the etiologic diagnosis of cardiomyopathies such as Fabry disease, as early detection is often essential for treatment response and outcomes. The present study sought to describe the echocardiographic features that may differenti...

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Publicado en:Echocardiography Vol. 36; no. 11; pp. 2041 - 2050
Autores principales: Militaru, Sebastian, Jurcuț, Ruxandra, Adam, Robert, Roşca, Monica, Ginghina, Carmen, Popescu, Bogdan A.
Formato: diagnostic images research tables/charts Journal Article
Publicado: Wiley-Blackwell Nov2019
Acceso en línea:Ver este registro en EBSCOhost
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      pub: Wiley-Blackwell
      place: Malden, Massachusetts
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        10.1111/echo.14508
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        atl: Echocardiographic features of Fabry cardiomyopathy—Comparison with hypertrophy‐matched sarcomeric hypertrophic cardiomyopathy.
      aug:
        au:
          Militaru, Sebastian
          Jurcuț, Ruxandra
          Adam, Robert
          Roşca, Monica
          Ginghina, Carmen
          Popescu, Bogdan A.
        affil: Department of Cardiology, Expert Center for Rare Genetic Cardiovascular Diseases, Emergency Institute of Cardiovascular Diseases "Prof. Dr. C. C. Iliescu", Bucharest Romania
      sug:
        subj:
          Fabry Disease Ultrasonography
          Myocardial Diseases Ultrasonography
          Cardiomyopathy, Hypertrophic Ultrasonography
          Hypertrophy, Left Ventricular Ultrasonography
          Echocardiography, Doppler
          Sensitivity and Specificity
          Human
          Prospective Studies
          Ventricular Ejection Fraction
          Heart Septum Pathology
          Age Factors
      ab: Background: The concept of "red flags" has been particularly useful in the etiologic diagnosis of cardiomyopathies such as Fabry disease, as early detection is often essential for treatment response and outcomes. The present study sought to describe the echocardiographic features that may differentiate Fabry cardiomyopathy from sarcomeric hypertrophic cardiomyopathy (HCM). Methods: Forty patients with left ventricular (LV) hypertrophy were prospectively included and divided into two groups: the Fabry group (20) and the sarcomeric HCM group (20). The two groups were matched for LV hypertrophy (similar maximum wall thickness and indexed LV mass) and age. All patients underwent full echocardiographic evaluation including ventricular strain analysis. Results: The Fabry group had significantly lower LV ejection fraction (63 ± 7 vs 72 ± 7%, P = .001) and higher LV end‐systolic diameter (28 ± 7 vs 22 ± 5 mm, P = .004). LV hypertrophy in Fabry patients was more often concentric, with a significantly lower interventricular septum/posterior wall ratio (1.22 ± 0.63 vs 1.55 ± 0.66, P = .001). Fabry patients had more reduced regional longitudinal strain in the inferolateral part of the LV (−9 ± 5 vs –16 ± 7%), and RV free wall longitudinal strain was also worse in Fabry patients (−23 ± 6 vs –28 ± 5%, P = .027). Conclusion: These parameters are promising echocardiographic features to identify patients with Fabry cardiomyopathy and may help for the detection and subsequent management of these patients.
      pubtype: Academic Journal
      doctype:
        diagnostic images
        research
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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