Correlation analysis between cardiac damage and genotype in Duchenne muscular dystrophy

Abstract

Objective  To explore the evolution of Duchenne muscular dystrophy (DMD) patients with cardiac damage.  Methods  Clinical data of 144 DMD patients who were clearly diagnosed by gene detection were collected and analyzed. According to the results of ultrasonic cardiography, they were divided into cardiac involvement group (N = 50) and non-involvement group (N = 94). The correlation between genotypes and cardiac damage was analyzed.  Results  Compared with non-involvement group, cardiac involvement group had larger atrium and ventricle (P < 0.01), thicker posterior wall of left ventricle and interventricular septum (P = 0.031, 0.001), as well as lower left ventricular ejection fraction (P = 0.034). In addition, the mutation rates of DMD gene in exon 3 (P = 0.047), exon 4 (P = 0.047), exon 21 (P = 0.047), exon 22 (P = 0.040) and exon 53 (P = 0.033) were increased significantly, indicating that mutations had a correlation with cardiac damage.  Conclusions  The main performance of DMD cardiac damage is dilated cardiomyopathy. It has more possibility to cause cardiac damage when DMD gene mutation is closer to the end of 5'-terminal.

DOI: 10.3969/j.issn.1672-6731.2015.06.007