Echocardiographic evaluation of hypertrophic cardiomyopathy in children / 中国实用儿科杂志

The transthoracic echocardiography(TTE)plays a critical role in the diagnosis and evaluation of pediatric hypertrophic cardiomyopathy(HCM),and is currently recognized as the first choice in investigation of HCM. Comprehensive TTE is recommended in all children suspected with HCM. To meet the criteria of diagnosis of HCM,the left ventricular wall thickness at any or more segments of left ventricular myocardium should be greater than the predicted mean plus two standard deviations. In the meanwhile,other diseases,such as hypertension,valvular diseases and aortic diseases,which could contribute to increased cardiac load,should be excluded. Besides the measurement of the thickness of the hypertrophic ventricular wall,we should also pay attention to the description of myocardial morphology,myocardial echo intensity,uniformity,and outflow tract obstruction. It is also necessary to assess ventricular size and general systolic and diastolic function,and apply advanced techniques to evaluate myocardial function in order to fully assess the state of the disease or to make differential diagnosis. In addition,echocardiography also has a wide range of application prospects in the treatment of HCM.

Balloon Angioplasty as a Modality to Treat Children with Pulmonary Stenosis Secondary to Complex Congenital Heart Diseases / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Pulmonary stenosis is common in children with complex congenital heart diseases. Proper management of this problem, especially postoperatively, is still controversial. This study was designed to assess the rate and determinants of success or failure of balloon angioplasty for such lesions.</p><p><b>METHODS</b>Clinical and hemodynamic data from 40 pediatric patients (24 boys and 16 girls) with complex congenital heart diseases who underwent balloon angioplasty were reviewed retrospectively from January 2012 to December 2016. Patients were divided into four groups according to the site of stenosis, which included pulmonary valve stenosis (PVS), valved conduit stenosis, pulmonary artery stenosis (PAS), and supravalvular pulmonary stenosis (SVPS). Success rates were calculated according to defined criteria for initial success and favorable clinical impacts, and comparison between the successful subgroup and the unsuccessful subgroups was analyzed.</p><p><b>RESULTS</b>Grouped by the site of stenosis, initial success rates varied from 40.0% to 52.4% with the greatest success being seen in the PVS group, followed by the PAS group and SVPS group. In the PVS group and the PAS group, there was no statistical difference among age at dilation, postoperative interval, balloon/stenosis ratio, or pressure gradient predilation between the successful and the unsuccessful subgroups. Favorable clinical impacts included success rates of balloon angioplasty in the SVPS group, which was best (100%), followed by the PVS group (90.9%) and the PAS group (85.7%). There were a total of two transient complications (5.0%).</p><p><b>CONCLUSIONS</b>Balloon angioplasty was proven to be a safe and useful modality in children with complex congenital heart diseases and postoperative pulmonary stenosis, which should be the initial therapeutic modality in selected patients.</p>

Role of Whole-exome Sequencing in Phenotype Classification and Clinical Treatment of Pediatric Restrictive Cardiomyopathy / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Restrictive cardiomyopathy (RCM) is the least common cardiomyopathy in which the walls are rigid and the heart is restricted from stretching and filling properly. Cardiac troponin I (cTnI) mutation-caused myofibril Ca2+ hypersensitivity has been shown to be associated with impaired diastolic function. This study aimed to investigate the linkage between the genotype and clinical therapy of RCM.</p><p><b>METHODS</b>Five sporadic pediatric RCM patients confirmed by echocardiography were enrolled in this study. Whole-exome sequencing (WES) was performed for the cohort to find out candidate causative gene variants. Sanger sequencing confirmed the WES-identified variants.</p><p><b>RESULTS</b>TNNI3 variants were found in all of the five patients. R192H mutation was shared in four patients while R204H mutation was found only in one patient. Structure investigation showed that the C terminus of TNNI3 was flexible and mutation on the C terminus was possible to cause the RCM. Catechins were prescribed for the five patients once genotype was confirmed. Ventricular diastolic function was improved in three patients during the follow-up.</p><p><b>CONCLUSIONS</b>Our data demonstrated that TNNI3 mutation-induced RCM1 is the most common type of pediatric RCM in this study. In addition, WES is a reliable approach to identify likely pathogenic genes of RCM and might be useful for the guidance of clinical treatment scheme.</p>

Value of the Ratio of Occluder Versus Atrial Septal Length for Predicting Arrhythmia Occurrence after Transcatheter Closure in Children with Ostium Secundum Atrial Septal Defect / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Transcatheter occlusion has been applied to treat ostium secundum atrial septal defect (OS ASD) since 1997. During the clinical practice, several postoperative complications including arrhythmia have been reported. This study aimed to evaluate the value of the ratio of atrial septal occluder (ASO) versus atrial septal length (ASL) for predicting arrhythmia occurrence after transcatheter closure in children with OS ASD.</p><p><b>METHODS</b>Six hundred and fifty-one children diagnosed with OS ASD underwent occlusion procedures after completing routine examinations. The onsets and types of arrhythmia both during and after the occlusion procedures were monitored. Treatments were given based on the individual types of arrhythmia. The binary logistic regression analysis and receiver-operating characteristic (ROC) curve were used in the analysis of value of the ratio of ASO/ASL for predicting postoperative arrhythmia occurrence.</p><p><b>RESULTS</b>Transcather occlusions were conducted in 651 children, among whom 7 children had different types and degrees of arrhythmia, with an incidence of 1.1%. The types of arrhythmia included sinus bradycardia, atrial premature beats, bundle branch block, and different degrees of atrioventricular block. Normal electrocardiograph findings were resumed in these 7 patients following active therapies such as corticoids, nutrition, and surgeries. The binary logistic regression and ROC analysis suggested that the ratio of ASO/ASL exhibited an intermediate predictive value for predicting arrhythmia occurrence after occlusion procedures. A cut-off value of 0.576 in the ratio provided a sensitivity of 87.5% and a specificity of 76.2% with an area under the ROC curve of 0.791 (95% confidence intervals, 0.655-0.926; P < 0.05) in predicting arrhythmia occurrence after the closure procedures.</p><p><b>CONCLUSIONS</b>The ratio of ASO/ASL might be a useful index for predicting arrhythmia occurrence after closure procedures in children with OS ASD.</p>

Clinical features and long-term prognosis of patients with anomalous origin of the left coronary artery from the pulmonary artery / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital heart anomaly. We aimed to illustrate the clinical features and long-term prognosis of patients with ALCAPA.</p><p><b>METHODS</b>Twenty three patients (13 males and 10 females, ages ranging from 2.5 months to 65 years) identified as ALCAPA in Beijing Anzhen Hospital from April 1984 to June 2009 were divided into two groups, based on the age of onset: group 1 (≤ 12 months, n = 16) and group 2 (> 12 months, n = 7).</p><p><b>RESULTS</b>Fifty six point three percent of patients in group 1 had been misdiagnosed as endocardial fibroelastosis (9/16), 18.8% as dilated cardiomyopathy (3/16) and 6.3% as myocardial infarction (1/16). Patients in group 2 were usually diagnosed as coronary heart disease, myocarditis, or patent ductus arteriosus. Electrocardiography in group 1 revealed abnormal Q waves with T wave inversion in leads I, avL, V(4)-V(6), especially in lead avL (deep and wide Q wave); but no specific manifestations in group 2. A higher percentage of patients in group 1 had cardiomegaly on chest radiograph (86.7% vs. 33.3%, P = 0.031), while pulmonary artery protrusion was more common in group 2 (26.7% vs. 83.3%, P = 0.046). Lower left ventricular ejection fraction (LVEF) was present in group 1 than in group 2 ((48.5 ± 11.5)% vs. (65.0 ± 6.1)%, P < 0.001). Apical ventricular aneurysm (62.5% vs. 0%, P = 0.007), enhanced echogenicity of papillary muscles (87.5% vs. 28.6%, P = 0.011) and endocardial thickening (93.8% vs. 14.3%, P < 0.001) were more frequent in group 1 than in group 2. The ratio of the proximal right coronary artery (RCA) diameter to the aortic root diameter exceeded 0.14 in all cases, more prominent in group 2 (0.26 ± 0.05 vs. 0.33 ± 0.03, P = 0.009). Increased coronary artery collaterals within the interventricular septum were detected in 18 patients (78.3%) by Doppler imaging. Twenty one patients underwent cardiac surgery, including left coronary artery (LCA) ligation (1/21), LCA ligation plus coronary artery bypass grafting (1/21), Takeuchi operation (7/21), and LCA reimplantation surgery (12/21). Four patients underwent concomitant mitral valve repair and one received mitral valve replacement. Aneurysm resection was performed in 3 cases. Six patients died in hospital after surgery, and the rest of the cohort had no overt symptoms during a follow-up period of 6 to 166 months. Their abnormal Q waves gradually regressed or disappeared, and the LVEF and left ventricle size returned to normal range with alleviation of mitral insufficiency.</p><p><b>CONCLUSIONS</b>The accurate diagnosis of ALCAPA can be made with serial diagnostic methods. ALCAPA can be successfully treated with several types of cardiac surgery, and surgeries of establishing two-coronary-artery circulation are the preferred operations nowadays, with good long-term prognosis.</p>

Collection of cardiac self-gated signals based on TrueFisp sequence / 中国医疗器械杂志

The paper introduces a method of self-gated signal's collection based on TrueFisp sequence, during self-gated cardiac magnetic resonance imaging. There is no significant difference in its image quality and only a slight loss in efficiency in comparison with MRI images by ECG-based triggering.