Cardiac involvement in becker muscular dystrophy

Abstract

The cardiac manifestation of Becker muscular dystrophy is characterized by early right ventricular involvement associated or not with left ventricular impairment. Exon 49 deletion is associated with cardiac disease.

Evolution of cardiac abnormalities in Becker muscular dystrophy over a 13-year period

“…Our findings have been confirmed by others [11,23,32,33,45]. In the present study with a mean follow-up of 12.5 years, cardiac abnormalities had progressed in 63% of patients.…”

“…In BMD estimates of the prevalence of abnormal cardiac findings vary from 17% to 74% [1,11,12,21,23,32,45]. Dilated cardiomyopathy (DCM) in BMD is independent of age and severity of muscle weakness [1,11,12,23,41,45]. It can even be the only clinical manifestaAbstract We evaluated the course of cardiac involvement in 27 previously reported patients with Becker muscular dystrophy (BMD) originating from nine kindreds.…”

“…Electrocardiographic (ECG) changes similar to those seen in DMD can be found in 41%-74% of BMD patients [7,11,12,23,45]. Echocardiographic abnormalities, including global hypokinesia [11,23,45], left ventricular dilatation or DCM [11,12,23,45], right ventricular dilatation [23], hypertrophic cardiomyopathy [20,32,33] and other wall motion abnormalities [11,23,45] are seen in 17%-67% of patients [11,12,23,32,45]. Despite the high proportion of DCM in BMD, symptomatic patients are not common.…”

“…In recent years the correlation between cardiac involvement and the defect at the DNA level has been studied [11,23,25,32,40,45]. To date, several mutations have been described which may give rise to DCM.…”

“…To date, several mutations have been described which may give rise to DCM. Some investigators have found a possible correlation between cardiac impairment and deletions encompassing exon 49, deletions of exons 2-7, exons 45-46, exon 47 and exon 48 [19,23,32,35,40,50]. Deletions in the promotor region of the dystrophin gene are presumed to cause DCM without musculoskeletal manifestations [5,25,27,49,50].…”