Echocardiographic Features of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy.

Autor: Marchel M; 1st Department of Cardiology, Medical University of Warsaw, Warsaw, Poland., Madej-Pilarczyk A; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland., Tymińska A; 1st Department of Cardiology, Medical University of Warsaw, Warsaw, Poland., Steckiewicz R; 1st Department of Cardiology, Medical University of Warsaw, Warsaw, Poland., Kochanowski J; 1st Department of Cardiology, Medical University of Warsaw, Warsaw, Poland., Wysińska J; 1st Department of Cardiology, Medical University of Warsaw, Warsaw, Poland., Ostrowska E; 1st Department of Cardiology, Medical University of Warsaw, Warsaw, Poland., Balsam P; 1st Department of Cardiology, Medical University of Warsaw, Warsaw, Poland., Grabowski M; 1st Department of Cardiology, Medical University of Warsaw, Warsaw, Poland., Opolski G; 1st Department of Cardiology, Medical University of Warsaw, Warsaw, Poland.
Jazyk: angličtina
Zdroj: Cardiology research and practice [Cardiol Res Pract] 2021 Feb 04; Vol. 2021, pp. 8812044. Date of Electronic Publication: 2021 Feb 04 (Print Publication: 2021).
DOI: 10.1155/2021/8812044
Abstrakt: Background: Emery-Dreifuss muscular dystrophy (EDMD) is a very rare type of muscular dystrophy characterized by musculoskeletal abnormalities accompanied by cardiac defects. Two most common genetic subtypes are EDMD1 due to EMD and EDMD2 caused by LMNA gene mutations. The aim of the study was to characterize and compare the cardiac morphology and function in the two main genetic subgroups of EDMD with the use of echocardiography.
Methods: 41 patients with EDMD (29 EDMD1 and 12 EDMD2) as well as 25 healthy controls were enrolled in our study. Transthoracic echo with the use of a prescribed protocol was performed.
Results: Highly statistically significant differences with regard to left ventricle (LV) volumes between the EDMD and the control group were found. 51% of EDMD patients had an enlarged left atrium and as many as 71% had an enlarged right atrium. The LV ejection fraction (LVEF) was significantly lower in EDMD patients than in the control group which corresponded also with a lower systolic velocity of the mitral annulus. 43% of EDMD patients had LVEF below the normal limit. Diastolic dysfunction was detected in 17% of EDMD patients. There were no significant differences between the two types of EDMD in terms of diameters and volumes of any chamber, as well as the systolic function of both left and right ventricles.
Conclusions: A significant number of EDMD patients present LV dilatation and different degrees of systolic dysfunction. Dilatation of the atria dominates over ventricle dilatation. We did not present any significant differences between EDMD1 and EDMD2 in terms of the morphology and the function of the heart.
Competing Interests: The authors declare that there are no conflicts of interest.
(Copyright © 2021 Michał Marchel et al.)
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje