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Abstract Details

Cardiac MRI in Duchenne and Becker Muscular Dystrophy
Neuromuscular and Clinical Neurophysiology (EMG)
P14 - Poster Session 14 (11:45 AM-12:45 PM)
11-001
We sought to determine the prevalence of cardiac involvement in Duchenne and Becker Muscular Dystrophy (DMD and BMD) using Cardiovascular MRI (CMRI) and its association with clinical and laboratory parameters.

Cardiac disease is a common manifestation of DMD and BMD. CMRI can be used as a non-invasive technique for detection of early myocardial fibrosis in DMD and BMD.

A prospective, observational study was conducted on 30 DMD and 5 BMD patients, genetically confirmed using Multiplex Ligation-dependent Probe Amplification (MLPA) and underwent cardiac MRI between March 2020 and August 2021. 

DMD patients had mean age of disease onset– 4.03 ± 1.63 years, and mean disease duration- 7.3 ± 3.42 years; BMD patients had mean age of onset- 13.4 ± 4.56 years and mean disease duration- 6.4 ± 2.41 years. All patients had predominantly proximal lower and upper limb weakness. 83.87% had variable deletion of exons in DMD gene (84.61% confined to regions between exons 45 to 54). CMRI revealed late gadolinium enhancement (LGE) of left ventricular (LV) wall, suggestive of myocardial fibrosis in 51.43% of cases, but only 5.71% was symptomatic. Among the patients with LGE, 55.55% (10 of 18) had reduced LV Ejection Fraction. Myocardial fibrosis in CMRI was associated with disease duration, but not with age, genotype or creatine kinase levels. CMRI changes showed good correlation with ECG – a characteristic descending pattern of voltage in anterior chest leads and low voltage in V6 lead.

There is a high prevalence of subclinical cardiac involvement in DMD/BMD patients which can be detected using Cardiac MRI, which helps in initiating early cardioprotective therapy in this subgroup. Myocardial fibrosis is confined to inferior and lateral LV wall in patients with mild involvement and progress towards LV apex, anterior and septal wall in patients with greater involvement.

Authors/Disclosures
Manu S S. G (NIMHANS)
PRESENTER
Mr. G has nothing to disclose.
No disclosure on file
No disclosure on file
Seena Vengalil, MD (Department of Neurology, NIMHANS) Dr. Vengalil has nothing to disclose.
Saraswati Nashi, MD (NIMHANS) Dr. Nashi has nothing to disclose.