Cardiac MRI in Duchenne and Becker Muscular Dystrophy

Manu Santhappan Girija; Deepak Menon; Kiran Polavarapu; Veeramani Preethish-Kumar; Seena Vengalil; Saraswati Nashi; Madassu Keertipriya; Mainak Bardhan; Priya Treesa Thomas; Valasani Ravi Kiran; Vikas Nishadham; Arun Sadasivan; Akshata Huddar; Gopi Krishnan Unnikrishnan; Ashita Barthur; Atchayaram Nalini

doi:10.4103/aian.aian_988_23

Cardiac MRI in Duchenne and Becker Muscular Dystrophy

Ann Indian Acad Neurol. 2024 Sep 1;27(5):552-557. doi: 10.4103/aian.aian_988_23. Epub 2024 Sep 30.

Authors

Manu Santhappan Girija¹, Deepak Menon¹, Kiran Polavarapu^{1

2}, Veeramani Preethish-Kumar¹, Seena Vengalil¹, Saraswati Nashi¹, Madassu Keertipriya¹, Mainak Bardhan¹, Priya Treesa Thomas³, Valasani Ravi Kiran¹, Vikas Nishadham¹, Arun Sadasivan³, Akshata Huddar¹, Gopi Krishnan Unnikrishnan¹, Ashita Barthur⁴, Atchayaram Nalini¹

Affiliations

¹ Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
² Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada.
³ Department of Psychiatric Social Work, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
⁴ Department of Radiology, Sri Jayadeva Institute of Cardiovascular Sciences and Research, Bengaluru, Karnataka, India.

Abstract

Background and objectives: Cardiovascular magnetic resonance imaging (CMRI) is the noninvasive technique of choice for early detection of cardiac involvement in Duchenne and Becker muscular dystrophy (DMD and BMD, respectively), but is seldom used in routine clinical practice in the Indian context. We sought to determine the prevalence of CMRI abnormalities in patients with DMD and BMD and to compare the CMRI parameters with the phenotypic and genotypic characteristics.

Methods: A prospective, observational study was conducted on patients genetically diagnosed with DMD and BMD who could complete CMRI between March 2020 and March 2022. Abnormal CMRI was the presence of any late gadolinium enhancement (LGE) that signifies myocardial fibrosis (LGE positivity), regional wall motion abnormality, or reduced left ventricular ejection fraction (LVEF <55%).

Results: A total of 46 patients were included: 38 patients with DMD and eight with BMD. Cardiac abnormality was seen in 23 (50%) patients. LGE was more common than impaired LVEF in DMD (16, 42.1%), while impaired LVEF was more common in BMD (5, 62.5%). LGE was most frequently found in lateral wall (18/19) followed by inferior (6/19), septal (5/19), anterior (2/19), and apex (1/19). Among the various clinicodemographic parameters, only age ( r = 0.495, P = 0.002) and disease duration ( r = 0.407, P = 0.011) were found to significantly correlate with LGE in patients with DMD. No association was found between the various CMRI parameters and the genotype.

Conclusions: The current study highlights the differences in myocardial fibrosis and LV dysfunction between DMD and BMD, along with other CMRI parameters. Notably, a genotype-CMRI correlation was not found in the current cohort, which needs to be further explored.