Cardiac assessment in children with Duchenne Muscular Dystrophy

Abstract

Background:Duchenne muscular dystrophy (DMD) is the most common X-linked recessive muscular dystrophy affecting 1 in 3,600 boys. DMD is caused by a mutation in the dystrophin gene, which codes for the protein dystrophin. It’s absence leads to degeneration of muscle cells.Striated muscles as well as cardiac and respiratory muscles get eventually affected leading to cardiorespiratory failure.Objectives: To assess the cardiac functions in the patients with Duchenne muscular dystrophy and to analyse their changes in correlation to their physical ability and muscle function. Materials and methods:A cross sectional observational study was conducted on 30 patients genetically proved of DMD. Clinical details,Gower time,creatinine phosphokinase levels, type of genetic mutation and cardiac functions (symptoms, ECG, ECHO) were noted and analysed. Results:6.7% were symptomatic for cardiac involvement. 73.3% patient had abnormal ECG.20% had abnormal 2D ECHO. Deep Q (46.7%) and abnormal R/S in V2 (43.3%) were the most frequent electrocardiographic finding. Deep Q wave (p value=0.025) and abnormal R wave in V2 (p value=0.033) was commonly observed in older age group. Echocardiography was abnormal in 36.6% (n=11). There was no correlation between the ECG and 2D Echo findings. Conclusion:ECG is better diagnostic test to detect subclinical cardiac involvement. Regular cardiac assessment along with the timed motor tests should be done in clinical follow up.