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Objective:To explore the pathogenic genes, clinical characteristics and treatment follow-up of children with congenital long QT syndrome (LQTS).Methods:Clinical data of 20 cases diagnosed with congenital LQTS and underwent gene testing from April 15, 2011 to April 15, 2021 in Department of Pediatric Cardiology, Shandong Provincial Hospital Affiliated to Shandong University were retrospectively collected and analyzed using independent sample t-test and Fisher′ s exact probability method. Results:LQTS-related gene mutations were detected in all the 20 cases, and pathogenic or suspected pathogenic mutations were identified in 18 cases (90.0%). Five LQTS mutation genes were discovered, including KCNQ1, KCNH2, SCN5A, CACNA1C and AKAP9.Eighteen cases (90.0%) had positive symptoms, and 13 cases (65.0%) had definite inducements.The inducement of symptoms in children with LQTS type 1(LQT1) was related to exercise, the causes of syncope in LQT1 and Jervell-Lange-Nielsen syndrome type 1 (JLNS1) with complex heterozygous mutations were exercise or emotional agitation; the causes of syncope in LQTS type 2 (LQT2) were unrelated to exercise; severe exercise in LQTS type 3 (LQT3) resulted in symptoms; and seizure in LQTS type 8 (LQT8) was non-induced.The corrected QT(QTc) interval of 20 cases was (553.1±66.6) ms, with a range of 460-707 ms, among which 17 cases showed QTc≥480 ms.The electrocardiogram(ECG) manifestations of children with various types of LQTS were different.There was no significant difference in QTc between different genders, or between children with syncope and those without syncope (all P>0.05). The follow-up time was (3.4±2.3) years, ranging from 0 to 8.3 years.Seventeen children received treatment[beta blockers and implantable cardiovertor-defibrillator(ICD)] and 3 cases did not.By the end of the follow-up, 1 child died, 19 cases survived, and 2 cases of the surviving children lost consciousness. Conclusions:There is a high consistency between genetic diagnosis and clinical diagnosis of congenital LQTS.The positive rate of gene detection is 90.0%.The clinical manifestations and ECG characteristics vary with genotypes.Beta blockers are protective.ICD therapy can prevent sudden cardiac death when oral medication does not respond.
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Objective To evaluate the safety and efficacy of percutaneous balloon pulmonary valvuloplasty (PBPV)in the treatment of the children with pulmonary stenosis (PS),and to observe the long - term prognosis and analyze the influencing factors. Methods The total of 230 children were collected,who had been diagnosed with pul-monary valve stenosis and had undergone percutaneous balloon pulmonary valvuloplasty between November 1987 and November 2015 in Shandong Provincial Hospital Affiliated to Shandong University. Their ages ranged from 4 months to 17 years,and the follow - up duration lasted from 1 month to 29 years. The data included clinical data and long - term follow - up data of hospitalized children,and the echocardiography data from the healthy peers in the same period. Then the data were analyzed statistically. Results In this study,228 cases of children were successfully performed PBPV, and the success rate was 99％(228 / 230 cases). The pulmonary transvalvular gradient (△P)of preoperation,24 hours postoperatively,half a year postoperatively,2 years postoperatively,5 years postoperatively,and 10 years postope-ratively was (63. 5 ± 23. 8)mmHg (1 mmHg = 0. 133 kPa),(26. 2 ± 11. 1)mmHg,(24. 8 ± 9. 8)mmHg,(20. 9 ± 8. 9)mmHg,(18. 1 ± 8. 7)mmHg,(15. 3 ± 7. 3)mmHg and (15. 3 ± 7. 3)mmHg,respectively. The immediate post-operative △P was significantly lower than that of preoperation (P < 0. 01),and the △P of the most children decreased in the long - term follow - up. The results of Logistic regression analysis showed that valve dysplasia with right ventricu-lar outflow tract stenosis and the immediate postoperative residual transvalvular gradient degree were the risk factors for long term curative effect of PBPV in children who could not reach the best standard. The restenosis rate was 4. 6％(3 /65 cases)with children followed up for more than 10 years. The incidence of long - term follow - up pulmonary valve regurgitation (83％)was significantly higher than that before operation (58％)and short term (68％)after operation, and the degree of regurgitation also increased (P < 0. 05),while the degree of regurgitation of the tricuspid regurgitation decreased gradually during the follow - up (P < 0. 05);the right ventricular diastolic diameter of the patients at 10 years or more after the operation was measured as (19. 27 ± 3. 03)mm,which was significantly higher than that (15. 24 ± 2. 89)mm of the healthy children of at the same term healthy age (P < 0. 05). Conclusions The PBPV has a high success rate in the treatment of children with PS,and it has good medium - long - term curative effect,less com-plications and lower restenosis rate. Therefore,PBPV can be used as the first choice for PS. However,the incidence and degree of pulmonary regurgitation has an increasing trend after PBPV and the right ventricular diastolic diameter is still larger than that of the healthy children. Therefore,the long - term follow - up is necessary out of the hospital.
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Objective To investigate the feasibility and safety of transcatheter closure of coronary artery fistula (CAF)with Amplatzer vascular PlugⅡ(AVPⅡ)in pediatric patients.Methods Between June 2012 and October 2015,5 children aged 0.9 to 7.0 years old and weighted 10 to 21 kg with CAF were admitted to the Department of Pediatric Cardiology in Shandong Provincial Hospital Affiliated to Shandong University.Aortic root angiography was used first to confirm the origin,shape,branches,drainage and the diameter of the orifice of CAF by deploying the pigtail catheter.The AVPⅡwas retrogradely deployed into targeted artery through guiding catheter and aortic angiography was performed before releasing the plug.Results All the 5 children underwent transcatheter closure by AVPⅡsuccessful-ly.Two cases were involved with right coronary -right ventricular fistula,1 case of left anterior descending coronary -right ventricular fistula (residual fistula after surgical repair),and 1 case of left circumflex coronary -left atrial fistula. Four children had a single fistula,and 1 case had double fistulas.The diameter of the orifice ranged from 2.00 to 5.96 mm,and the selected occluders from 8 to 14 mm.The ratio of diameter of occluder to fistula orifice ranged from 2.3 to 3.4.All the patients were followed up for 4 to 44 months.Two patients developed instant minor and modera-te aortic re-gurgitation.No other complications such as thrombosis,embolization,residual shunt,arrhythmia,coronary dissection or perforation occurred.Conclusions Transcatheter closure of CAF by AVPⅡin pediatric patients is feasible and safe. Aortic regurgitation should be noted,especially during the procedure.
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Fetal congenital heart disease can be identified reliably by prenatal echocardiography.A sequential segmental approach is critical for correct evaluation of the cardiac malformation.The outcome of the patients with congenital heart disease is poor and a multidisciplinary is needed to the parental counseling and perinatal management planning.It is of great significance for reducing rate of birth defect.