Evaluation of cardiac functions in children with Duchenne Muscular Dystrophy: A prospective case-control study

Abstract

BackgroundDuchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy. The incidence of cardiomyopathy in DMD increases with age, so its early detection is important because institution of cardioprotective medical therapies may slow adverse remodeling and attenuate heart failure symptoms in these patients.ObjectiveTo assess the cardiac functions in children clinically suspected to have DMD.MethodsOver a one-year period, 28 male children aged from 3 to 18 years old, who met the criteria for diagnosis of DMD compared to 47 healthy controls children, were approached to participate in the study. The included children were subjected to full clinical examination, and blood samples were collected to determine creatinine phosphokinase (CPK), troponin I enzyme, myoglobin and lactate dehydrogenase (LDH) enzyme level. Echocardiography and 12-leads electrocardiogram (ECG) were also done for children in both groups. Data were analyzed using Independent-samples t-test, Mann-Whitney U, Chi square, and Fisher’s exact test.ResultsThe mean age of the cases group was 7.29±3.24 years versus 8.06±2.86 years for controls. In DMD group, 25% had positive family history of DMD while 35.7% of them had positive consanguinity. All cases had elevated CPK level while CPK level in controls was normal (p<0.0001). LDH level was elevated in 19 cases (67.86%) of DMD while all controls children had normal LDH level (p<0.0001). Furthermore, the mean serum myoglobin level of DMD patients was higher relative to that of healthy controls (39.39±7.25 versus 33.68 ±12.38 ng/ml respectively) (p=0.01). Echocardiography of our patients revealed that seven cases (25%) had low ejection fraction (EF) and fraction shortening (FS). In addition, all controls children had normal EF (p<0.0001) and normal FS (p<0.0001). Interestingly, ECG showed that 28.57% of cases had sinus tachycardia vs. 6.88% for controls (p=0.0001). Prolonged QTc interval was present in 39.29% of cases (mean 431.39±43.60) while all controls had normal QTc duration for age (mean of 415.17±25.2) (p<0.0001).ConclusionECG manifestations in children with DMD in the form of sinus tachycardia and prolonged QTc interval are an early alarm for developing cardiomyopathy before overt echocardiographic findings appear.

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

“…Both lower contraction force and arrhythmic events occur in DMD patient's heart from a very young age and before dilated cardiomyopathy onset. In fact, 25% of pediatric DMD patients under 10 years old already showed decreased ejection fraction and have developed sinus tachycardia (Sadek et al, 2017). Overall, our model presents functional alterations of an early-stage cardiac manifestation of DMD.…”

Preliminary Evidences of Safety and Efficacy of Flavonoids- and Omega 3-Based Compound for Muscular Dystrophies Treatment: A Randomized Double-Blind Placebo Controlled Pilot Clinical Trial

“…In particular, we defined cardiomyopathy with values of left ventricular ejection fraction (EF) and shortening fraction (SF) of, respectively, <55 or <28% or both, while severe cardiomyopathy was considered with EF <45% and SF <20%. Severe pulmonary disease was determined by Forced Expiratory Volume in 1 s (FEV 1 ) <0.8 L and Force Vital Capacity (FVC) <40% (38–40). Included DMD patients' genotyping showed deletion of N -terminal ( N = 3), ROD domain ( N = 8), and point mutation of ROD domain ( N = 1) of dystrophin gene.…”

Does β-Hydroxy-β-Methylbutyrate Have Any Potential to Support the Treatment of Duchenne Muscular Dystrophy in Humans and Animals?

“…After muscle injury, the plasma level of the aforementioned CK and LDH is increasing [ 135 , 136 , 137 ]. Sadek et al’s (2017) [ 93 ] study on DMD children showed that creatinine phosphokinase (CPK) in all cases was high and in 19 cases of 28 male DMD children, the LDH level was also elevated, in comparison to control individuals.…”