Cardiac profile of the Czech population of Duchenne muscular dystrophy patients: a cardiovascular magnetic resonance study with T1 mapping

Abstract

BackgroundThe progressive cardiomyopathy that develops in boys with Duchenne and Becker muscular dystrophy (DMD/BMD) is presumed to be a secondary consequence of the fibrosis within the myocardium. There are only limited data on using parametric imaging in these patients. The purpose of this study was to assess native T1 and extracellular volume (ECV) values in DMD patients.MethodsThe Czech population of males with DMD/BMD was screened. All eligible patients fulfilling the inclusion criteria were included. Forty nine males underwent cardiac magnetic resonance (MR) examination including T1 native and post-contrast mapping measurements. One DMD patient and all BMD patients were excluded from statistical analysis. Three groups were compared – Group D1 - DMD patients without late gadolinium enhancement (LGE) (n = 23), Group D2 - DMD patients with LGE (n = 20), and Group C – gender matched controls (n = 13).ResultsCompared to controls, both DMD groups had prolonged T1 native relaxation time. These results are concordant in all 6 segments as well as in global values (1041 ± 31 ms and 1043 ± 37 ms vs. 983 ± 15 ms, both p < 0.05). Group D2 had significantly increased global ECV (0.28 ± 0.044 vs. 0.243 ± 0.013, p < 0.05) and segmental ECV in inferolateral and anterolateral segments in comparison with controls. The results were also significant after adjustment for subjects’ age.ConclusionDMD males had increased native T1 relaxation time independent of the presence or absence of myocardial fibrosis. Cardiac MR may provide clinically useful information even without contrast media administration.

DMD Pluripotent Stem Cell Derived Cardiac Cells Recapitulate in vitro Human Cardiac Pathophysiology

“…It is represented by a slowly progressing decline in diastolic function, systolic ejection fraction, and fractional shortening (Markham et al, 2006). Mechanical degeneration is associated with progressive cardiomyocyte (CM) wasting and spreading of fibrosis throughout the ventricular wall (Finsterer and Stöllberger, 2003;Panovský et al, 2019), which leads to intracardiac conduction disturbances, inducing atrial and life-threatening ventricular arrhythmias (Chenard et al, 1993;Himmrich et al, 2000). Gradual dilatation of the ventricle, thinning of the wall (Wagner et al, 2007), and consequent loss of contractility lead to repeated episodes of heart failure, which recently became the most frequent mortality cause in DMD patients worldwide (Finsterer and Stöllberger, 2003;Fayssoil et al, 2010).…”

Echocardiographic signs of subclinical cardiac function impairment in Duchenne dystrophy gene carriers

“…Cardiac involvement manifests as a progressing decline in diastolic function, systolic ejection fraction, and fractional shortening (Markham et al, 2006). Myocardial fibrosis is related, with muscle contraction impairment (Panovský et al, 2019) There are a number of proposed mechanisms of the disease's etiology. Primary sarcolemmal tears (Danialou et al, 2001) as a consequence of a non-functional dystroglycan complex has a number of consequences, e.g.…”

“…In our previously published study (Panovský et al, 2019) focused on young males with manifest Duchenne dystrophy, we used cardiac magnetic resonance (CMR) to assess the cardiac function and early signs of affection of the heart by T1 mapping because echocardiography is associated with some difficulties due to skeletal deformities and narrow intercostal spaces. Female carriers do not present rib cage anomalies, thus we used echocardiography with tissue Doppler imaging as the first line method to assess subclinical cardiac dysfunction.…”

Echocardiographic signs of subclinical cardiac function impairment in Duchenne dystrophy gene carriers

“…Cardiac involvement manifests as progressing decline in diastolic function, systolic ejection fraction, and fractional shortening (Markham et al, 2006). Related is myocardial fibrosis, with muscle contraction impairment (Panovský et al, 2019) There is number of proposed mechanisms of the disease etiology, primary sarcolemmal tears (Danialou et al, 2001) as consequence of non-functional dystroglycan complex has number of consequences, e.g. increase oxidative stress, ion channel disturbances as well as numerous molecular pathways alteration (Berry et al, 2013;Jelinkova et al, 2019;Mu et al, 2015) eventually leading to impaired heart muscle regeneration, possibly due to stem cell depletion (Pesl et al, 2020).…”

“…In our previously published study (Panovský et al, 2019) in young males with manifest Duchenne dystrophy we used cardiac magnetic resonance (CMR) to assess the cardiac function and early signs of affection of the heart by T1 mapping because echocardiography has some difficulties due to skeletal deformities and narrow intercostal spaces. Female carriers do not present rib cage anomalies, thus we used echocardiography with tissue Doppler imaging as first line method to assess subclinical cardiac dysfunction.…”