Echocardiographic Features of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy

Abstract

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.

Predictors of mortality and cardiovascular outcomes in Emery-Dreifuss muscular dystrophy in a long-term follow-up

“…Depressed left ventricular systolic function is a typical feature of cardiomyopathy in the course of dystrophinopathy [29] and laminopathy [22]. There is also evidence of both ventricles' involvement in cardiomyopathy when EDMD is diagnosed [3]. Interestingly, in our cohort, LVSF (left ventricular ejection fraction [LVEF]) as a left ventricular function parameter differed between those patients developing events and those who did not present events.…”

“…At inclusion, the transthoracic echocardiography was performed in all subjects. All four heart chambers diameters and volumes, as well as the systolic function of both right and left ventricles, were measured according to the protocol previously described [3]. Venous blood samples were obtained at inclusion, and plasma levels of cardiac biomarkers (NT-proBNP, Roche Diagnostics GmbH, Mannheim, Germany; NT-proANP, Biomedica Medizinpro-dukte® GmbH, Wien, Austria) were determined.…”

“…The peripheral muscle's involvement might be benign while the main risk for patients is that of cardiovascular complications [2]. Features of typical cardiomyopathy [3] and typical arrhythmias occurring during the disease [4] have been previously described. The current study aimed to identify predictors of adverse clinical events in a long-term follow-up observation.…”

Acute heart failure and bradyarrhythmia in a young male—what hides beneath the surface?: a case report

“…Cardiac involvement in EDMD2 is more variable and more difficult to predict than in EDMD1, being associated with earlier and more aggressive course, culminating in a dilated (sometimes restrictive) cardiomyopathy with decreased LVEF. 2 , 4 , 7 Neurohormonal modulation therapy constitutes the main treatment of left ventricular dysfunction, although specific data on the efficacy of this therapy in EDMD is lacking. 3 , 8 Heart transplantation constitutes an option for end-stage HF, if muscular symptoms are not severe and incapacitating.…”

My approach to diagnosis of and echocardiographic follow-up for muscular dystrophies

“…EDMD is a rare disease characterized by a high frequency of cardiac involvement that usually presents as supraventricular and ventricular arrhythmias, conduction disorders, chamber dilation, and systolic dysfunction. 1,2,16,24,25 The most common echocardiographic findings in EDMD patients characterize the DCM phenotype and include LV dilatation and systolic dysfunction, LV diastolic dysfunction, and bi-atrial enlargement. Atrial standstill and an increased risk of embolic phenomena may also occur.…”