Echocardiographic assessment of left ventricular morphology and function in patients with Emery-Dreifuss muscular dystrophy.

ABSTRACT

BACKGROUND: Emery-Dreifuss muscular dystrophy (EDMD) characterized by musculoskeletal abnormalities is often associated with atrioventricular conduction disturbances. Although some EDMD patients were reported to develop dilated cardiomyopathy, there are limited data on their left ventricular (LV) performance. METHODS: Therefore, we echocardiographically assessed 27 men (23 cases aged 26.4+/-6.8 years with X-linked, and four cases aged 22.2+/-8.6 years with autosomal dominant (AD)) EDMD. Control group included 16 male healthy controls aged 24.8+/-6.0 (18-37) years. RESULTS: Although LV end diastolic dimension was similar in EDMD and controls (4.9+/-0.6 and 4.99+/-1.1 cm, ns), dilated left ventricle was found in three X-linked EDMD subjects. LV ejection fraction was significantly reduced in EDMD (62.3+/-1% vs. 71.2+/-2%, p=0.01) and was below 50% in six (22.2%) X-linked EDMD patients. Doppler analysis disclosed prolonged isovolumetric relaxation time of the left ventricle in the studied group. This finding may indicate impaired LV relaxation. CONCLUSION: A significant subgroup of X-linked EDMD patients shows pronounced abnormalities of left ventricular function. This warrants cardiologic follow up of EDMD patients.