ABSTRACT
Objective:To detect the level of the circulating cell-free mitochondrial DNA (ccf-mtDNA) in plasma of children with primary carnitine deficiency (PCD)-associated cardiomyopathy and evaluate its clinical significance.Methods:In this prospective case-control study, peripheral blood samples were collected from 7 PCD patients with cardiomyopathy (PCD group), 16 dilated cardiomyopathy (DCM) patients (DCM group), and 50 healthy children (healthy control group) in the Pediatric Cardiovascular Department Ward of First Hospital of Jilin University from July 2017 to June 2022.The ccf-mtDNA levels were measured and compared between groups by the real-time fluorescence quantitative polymerase chain reaction.The correlations between plasma ccf-mtDNA level and blood free carnitine level and cardiac function in the PCD group were analyzed.The changes in the ccf-mtDNA level were monitored after L-carnitine treatment in the PCD group.The Kruskal-Wallis test was used for comparison among the three groups.The Mann-Whitney test was used for comparison between the PCD group and the control group.Changes before and after treatment in the PCD group were analyzed using the paired Wilcoxon rank sum test.The correlation between variables was evaluated by Logistic regression.Results:The plasma ccf-mtDNA levels in the PCD and DCM groups were 3.69×10 6 (1.09×10 6-7.26×10 6) copies/L and 0.99×10 6 (0.25×10 6-4.10×10 6) copies/L, respectively, which were significantly higher than that in the healthy control group[0.09×10 6 (0.01×10 6-0.35×10 6) copies/L]( H=33.34, 24.69; all P<0.01). Besides, the plasma ccf-mtDNA level in the PCD group was higher than that in the DCM group ( H=6.31, P<0.05). In the PCD group, the plasma ccf-mtDNA level was negatively correlated with the blood free carnitine level and left ventricular ejection fraction ( r=-0.85, -0.82, all P<0.05) and positively correlated with the modified Ross score and the N-terminal pro B type natriuretic peptide level ( r=0.81, 0.83, all P<0.05) before L-carnitine treatment.After treatment, the plasma ccf-mtDNA level decreased, and the blood free carnitine level and cardiac function recovered in the PCD group.The plasma ccf-mtDNA level declined sharply from the 3 rd month[0.96×10 6(0.50×10 6-2.27×10 6) copies/L] after treatment ( Z=2.24, P<0.05) and got to 0.27×10 6 (0.18×10 6-0.76×10 6) copies/L, 0.29×10 6(0.19×10 6-0.78×10 6) copies/L, and 0.16×10 6(0.10×10 6-1.06×10 6) copies/L at the 6 th, 9 th, and 12 th months after treatment, respectively, with no statistically significant difference compared to the healthy control group[0.09×10 6(0.01×10 6-0.35×10 6) copies/L] ( Z=1.23, 1.09, 2.12; all P>0.05). Conclusions:Plasma ccf-mtDNA may act as one pathogenic factor of cardiomyopathy in PCD, and monitoring its level is clinically important for heart condition assessment in PCD.
ABSTRACT
Non-compaction of ventricular myocardium (NVM), a rare congenital and inherited cardiomyopathy, is characterized by prominent trabeculations and deep intertrabecular recesses in communication with the ventricular cavity.NVM has diverse clinical presentations without specificity, of which the major characteristics are cardiac insufficiency, arrhythmias and thrombosis.Echocardiography and cardiac magnetic resonance imaging are necessary technologies to diagnose NVM.Symptomatic therapy is the only choice for most patients.Furthermore, if medical treatment fails, the heart transplantation could be performed.As a whole, NVM has a high mortality and entirely different prognosis, however, the prognosis of asymptomatic patients is relatively good.
ABSTRACT
Non-compaction of ventricular myocardium (NVM),a rare congenital and inherited cardiomyopathy,is characterized by prominent trabeculations and deep intertrabecular recesses in communication with the ventricular cavity.NVM has diverse clinical presentations without specificity,of which the major characteristics are cardiac insufficiency,arrhythmias and thrombosis.Echocardiography and cardiac magnetic resonance imaging are necessary technologies to diagnose NVM.Symptomatic therapy is the only choice for most patients.Furthermore,if medical treatment fails,the heart transplantation could be performed.As a whole,NVM has a high mortality and entirely different prognosis,however,the prognosis of asymptomatic patients is relatively good.
ABSTRACT
Interleukin-6 (IL-6) is involved in the repair of various tissues.As a key transcription factor in IL-6 pathway, signal transducer and activator of transcription 3(STAT3) is required for heart protection.By inducing STAT3 activation, IL-6 signaling pathway could repair the cardiac damage in the healing process of many kinds of heart diseases, including cardiac injury, myocarditis and heart failure.Therefore, researches on the effect of IL-6/STAT3 pathway on heart repair has potential therapeutic implications for heart diseases.
ABSTRACT
Toll - like receptors represents the first line of defense against foreign pathogens and play an essen-tial role in the innate immune response. Toll - like receptor 9(TLR9)is a major receptor mediating CpG DNA signal transduction,which can not only resist inflammation but also induce inflammatory damage. Studies show that the activa-tion of TLR9 which mediated by endogenous nucleic acid released during viral myocarditis (VMC)can cause the heart damage and be involved in the process of VMC. Further study on the role of TLR9 signal in VMC will provide a theoreti-cal foundation for further revealing the pathogenesis of VMC and seeking effective treatment.
ABSTRACT
<p><b>OBJECTIVE</b>To study the ECG features in children with dilated cardiomyopathy (DCM), and related factors for the occurrence of arrhythmia secondary to DCM.</p><p><b>METHODS</b>Data from 68 children with DCM from January 1998 to March 2011 were studied. The children were classified into three groups: severe arrhythmia (n=42), non-severe arrhythmia (n=20) and non-arrhythmia (n=6). Left ventricular end diastolic diameter (LVED), left ventricular ejection fraction (LVEF) and left ventricular fractional shortening (LVFS) were compared.</p><p><b>RESULTS</b>Abnormal ECG results were found in all of the 68 children with DCM. Sinus tachycardia (91%) and ectopic pulsatile (86%) were common. LVED in the severe arrhythmia group (74±6 mm) was greater than that in the non-severe arrhythmia group (65±4 mm; P<0.05) and non-arrhythmia group (61±3 mm; P<0.05). LVED in the non-severe arrhythmia group was also greater than that in the non-arrhythmia group (P<0.05). LVEF and LVFS in the severe arrhythmia group were (30±11)% and (22±4)%, respectively, which were lower than those in the non-severe arrhythmia group［(37±12)% and (28±5)%, respectively］and non-arrhythmia group［(45±9)% and (34±7)%, respectively］(P<0.05). There were also significant differences in the LVEF and LVFS between the non-severe arrhythmia and non-arrhythmia groups (P<0.05).</p><p><b>CONCLUSIONS</b>The common abnormal ECG findings are sinus tachycardia and ectopic pulsatile in children with DCM. Arrhythmia is one of the main clinical manifestations of DCM. The occurrence of arrhythmia is associated with the left ventricular size and heart function.</p>