Cardiovasc Imaging Asia.  2023 Jan;7(1):10-13. 10.22468/cvia.2022.00178.

Duchenne Muscular Dystrophy: A Case Report and Literature

• Tang L

• KMID: 2543198
• DOI: http://doi.org/10.22468/cvia.2022.00178

Abstract

Duchenne muscular dystrophy (DMD) is one of the first identified monogenic diseases, often leading to severe disability and early death. A boy aged 13 years 11 months presented to the hospital with chest pain for 2 hours. There was no recent history of infection. Previous myocardial zymography showed increased creatine kinase, and electrocardiogram (ECG) showed sinus arrhythmia with J-point elevation (anterior wall, inferior wall). Transthoracic echocardiography demonstrated normal left ventricular systolic and diastolic functions. Digital subtraction angiography showed good coronary angiography and ruled out myocardial infarction. Cardiac MRI (CMR) revealed massive edema and necrosis in the myocardial wall. The patient’s medical history included ECG at other hospitals (the details are unknown) that showed ST segment abnormality indicating myocardial damage. Based on this, muscular dystrophy was considered. In detecting the DMD variant gene, the patient showed homozygous deletion in exons 4–9. The mother also showed heterozygous deletion in exons 4–9 of the DMD gene, consistent with the diagnosis of DMD. Based on these findings, I diagnosed DMD. This case report highlights the role of imaging, especially CMR, in diagnosing and prognosis DMD.

Keyword

Duchenne muscular dystrophy; Cardiac magnetic resonance imaging; Cardiomyopathy