DOI: 10.5281/zenodo.18214466
title: Echocardiographic Evaluation of Left Ventricular Morphology and Function in Patients with Emery–Dreifuss Muscular Dystrophy: Evidence of Dilated Cardiomyopathy in X-Linked Forms and Implications for Modern Cardiac Screening and Management

description: Abstract:

Objective:

Emery–Dreifuss muscular dystrophy (EDMD) is a rare inherited disorder characterized by early contractures, slowly progressive humeroperoneal muscle weakness/atrophy, and prominent cardiac involvement, primarily conduction disturbances. While atrioventricular block and arrhythmias are well-described, data on left ventricular (LV) morphology and systolic function were limited in the early 2000s, with only sporadic reports of dilated cardiomyopathy. This study aimed to systematically assess LV structure and performance using transthoracic echocardiography in a cohort of genetically confirmed EDMD patients, comparing X-linked (EDMD1, emerin deficiency) and autosomal dominant (EDMD2, lamin A/C) forms.

Methods:

This prospective cross-sectional study included 27 male patients with EDMD: 23 with X-linked EDMD1 (mean age 26.4 ± 6.8 years) and 4 with autosomal dominant EDMD2 (mean age 22.2 ± 8.6 years). Standard transthoracic echocardiography was performed to evaluate LV dimensions (end-diastolic and end-systolic diameters/volumes), wall thickness, ejection fraction (EF, using Simpson’s biplane method), fractional shortening, and qualitative/global systolic function. Atrial sizes and diastolic parameters were also noted where available. Results were compared between genetic subtypes and correlated with clinical/musculoskeletal severity.

Results:

A significant proportion of patients, particularly those with X-linked EDMD1, exhibited abnormalities in LV morphology and function. Dilated cardiomyopathy was evident in a notable subgroup, with increased LV end-diastolic dimensions, reduced EF, and impaired global systolic function. Pronounced LV systolic dysfunction was more frequent and severe in X-linked cases compared to the small autosomal dominant group. Atrial dilatation was common across both subtypes, consistent with chronic conduction disease and atrial standstill risk. No major differences in LV parameters were observed between subtypes in this limited AD cohort, but the X-linked form appeared associated with more advanced cardiomyopathy.

Conclusions:

This early echocardiographic study demonstrated that a substantial subgroup of EDMD patients — especially those with X-linked EDMD1 — develops significant LV dilatation and systolic dysfunction, supporting dilated cardiomyopathy as an underrecognized but important cardiac manifestation beyond conduction defects. These findings underscored the need for routine cardiologic follow-up, including serial echocardiography, in all EDMD patients regardless of genetic subtype. Subsequent larger studies (e.g., 2021 analyses comparing EDMD1 and EDMD2) confirmed variable but frequent LV dilatation, reduced EF, and atrial predominance over ventricular dilatation, with no consistent major differences between subtypes in morphology/function. By 2026, international guidelines (e.g., AHA/ESC neuromuscular cardiomyopathy statements and updated muscular dystrophy management) strongly recommend baseline and annual (or more frequent) screening with ECG, Holter monitoring, and echocardiography (or cardiac MRI when echo windows are poor) starting at diagnosis, even in asymptomatic patients. Advanced imaging (CMR for fibrosis quantification, strain echocardiography for subclinical dysfunction) now aids early detection of progressive cardiomyopathy, guiding timely interventions such as ACE inhibitors/ARBs, beta-blockers, device therapy (pacemakers/ICDs), and risk stratification for sudden death or heart failure.

Keywords: Emery–Dreifuss muscular dystrophy, dilated cardiomyopathy, left ventricular function, echocardiography, X-linked EDMD, laminopathy, emerinopathy, cardiac screening, conduction defects.