Cardiac MRI and Echocardiography for Early Diagnosis of Cardiomyopathy Among Boys With Duchenne Muscular Dystrophy: A Cross-Sectional Study

Nidhi Prakash,Bhupendra Kumar Sihag,Renu Suthar,Rohit Manoj Kumar,Uma Debi,Naveen Sankhyan

doi:10.3389/fped.2022.818608

Nidhi Prakash, Bhupendra Kumar Sihag + Show 4 more

Open Access

https://doi.org/10.3389/fped.2022.818608

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Abstract

BackgroundCardiomyopathy is an important cause of morbidity and mortality in boys with Duchenne muscular dystrophy (DMD). Early diagnosis is a prerequisite for timely institution of cardioprotective therapies.ObjectiveWe compared cardiac MRI (CMRI) with transthoracic echocardiography (TTE) including tissue Doppler imaging (TDI) and speckle tracking echocardiography (STE) for diagnosis of cardiomyopathy in early ambulatory boys with DMD.MethodologyThis cross-sectional study was conducted between June 2018 and December 2020. Consecutive boys between 7 and 15 years of age with DMD were enrolled. Percentage ejection fraction (EF), fractional shortening, wall motion abnormalities, early diastolic mitral annulus velocity (Ea), medial mitral annulus ratio (E/Ea), and global strain were measured with STE. CMRI-derived EF, segmental hypokinesia, and late gadolinium enhancement (LGE) were studied and compared.ResultsA total of 38 ambulatory boys with DMD were enrolled. The mean age was 8.8 ± 1.6 years, and none had clinical features suggestive of cardiac dysfunction. In the TTE, EF was ≤55% in 5 (15%), FS was ≤28% in 3 (9%), and one each had left ventricular wall thinning and wall hypokinesia. In TDI, none had diastolic dysfunction, and STE showed reduced global strain of < 18% in 3 (9%) boys. CMRI-derived EF was ≤55% in 20 (53%) boys and CMRI showed the presence of left ventricular wall hypokinesia in 9 (24%) and LGE in 4 (11%) boys.ConclusionCardiomyopathy remains clinically asymptomatic among early ambulatory boys with DMD. A significantly higher percentage of boys revealed early features of DMD-related cardiomyopathy in CMRI in comparison with echocardiography.

Highlights

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder characterized by progressive and irreversible loss of muscles function
We evaluated the comparative efficacy of cardiac MRI (CMRI) and Trans thoracic echocardiography (TTE), including Tissue Doppler imaging (TDI) and STE, for early diagnosis of cardiomyopathy in young boys with DMD
A total of 350 boys with DMD are registered in the pediatric neurology clinic; 126 boys visited the outpatient department during the study period and were screened for eligibility

Summary

Introduction

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder characterized by progressive and irreversible loss of muscles function. The incidence of DMD is 1 in 5,000 male newborns, and prevalence is 6 cases in 100,000 males [1]. DMD is secondary to lack of dystrophin protein; a large membraneassociated protein expresses in striated muscles, brain, and heart [2, 3]. Natural history studies of DMD revealed that boys with DMD develop progressive weakness and become nonambulatory by the second decade of life [4]. Later, these children develop progressive scoliosis and respiratory insufficiency. Cardiac involvement manifests with dilated cardiomyopathy, congestive cardiac failure, and arrhythmias. Cardiomyopathy is an important cause of morbidity and mortality in boys with Duchenne muscular dystrophy (DMD). Diagnosis is a prerequisite for timely institution of cardioprotective therapies

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