ABSTRACT
OBJECTIVES@#To study the genetic characteristics, clinical characteristics, and prognosis of children with primary dilated cardiomyopathy (DCM).@*METHODS@#A retrospective analysis was performed on the medical data of 44 children who were diagnosed with DCM in Hebei Children's Hospital from July 2018 to February 2023. According to the genetic testing results, they were divided into two groups: gene mutation-positive group (n=17) and gene mutation-negative group (n=27). The two groups were compared in terms of clinical data at initial diagnosis and follow-up data.@*RESULTS@#Among the 44 children with DCM, there were 21 boys (48%) and 23 girls (52%). Respiratory symptoms including cough and shortness of breath were the most common symptom at initial diagnosis (34%, 15/44). The detection rate of gene mutations was 39% (17/44). There were no significant differences between the two groups in clinical characteristics, proportion of children with cardiac function grade Ⅲ or Ⅳ, brain natriuretic peptide levels, left ventricular ejection fraction, and left ventricular fractional shortening at initial diagnosis (P>0.05). The median follow-up time was 23 months, and 9 children (20%) died, including 8 children from the gene mutation-positive group, among whom 3 had TTN gene mutation, 2 had LMNA gene mutation, 2 had TAZ gene mutation, and 1 had ATAD3A gene mutation. The gene mutation-positive group had a significantly higher mortality rate than the gene mutation-negative group (P<0.05).@*CONCLUSIONS@#There is no correlation between the severity of DCM at initial diagnosis and gene mutations in children. However, children with gene mutations may have a poorer prognosis.
Subject(s)
Male , Female , Humans , Child , Stroke Volume , Retrospective Studies , Ventricular Function, Left , Phenotype , Cardiomyopathy, Dilated/diagnosis , Mutation , ATPases Associated with Diverse Cellular Activities/genetics , Membrane Proteins/genetics , Mitochondrial Proteins/geneticsABSTRACT
Objective The purpose of this study was to evaluate the predictive strength using the percentile of trans-isthmus conduction time during ablation of cavotricuspid isthmus(CTI)-independent typical atrial flutter for complete bidirectional conduction block.Methods This study was conducted with data from patients with typical atrial flutter(AF)who underwent ablation between February 2021 and February 2023(35 cases in the Beijing Anzhen Hospital,2 cases in the Children's Hospital of Hebei Province).Atrial flutter was induced during the operation,and linear ablation along the tricuspid valve ring to inferior vena cava was performed by anatomic ablation.The data collected were baseline clinical characteristics,Tachycardia Cycle Length(TCL),local conduction interval under coronary sinus pacing before ablation(P-ABL1),local conduction interval under coronary sinus pacing after ablation(P-ABL2).The percentage of P-ABL2 to TCL after ablation was calculated to evaluate the value of post-ablation local conduction interval percentage in the diagnosis of AF ablation endpoint,and its effectiveness was verified by the post-ablation activation sequence.Results All enrolled patients underwent ablation,and CTI was linearly blocked by parallel activation marker test.The TCL was(310.00±46.32)ms.The P-ABL1 was(92.16±27.65)ms and the P-ABL2 was(173.65±16.35)ms.Results significant difference between the two groups(P＜0.001).The percentage of P-ABL2 to TCL was(0.81±0.12).The percentage is close to 1,which is higher for evaluating the specificity and effectiveness of CTI bidirectional block.Conclusions The ablation endpoint of CTI block can be predicted by using the P-ABL1 before surgery,combined with the percentage of local conduction time after ablation.