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Long-chain fatty acid utilization in Eisenmenger syndrome 长链脂肪酸在艾森曼格综合征中的利用
IF 0.8 Q4 PEDIATRICS Pub Date : 2026-01-01 DOI: 10.1016/j.ppedcard.2026.101902
Omer Cavus , Manisha J. Oza , Austin Angelotti , Jennifer DeSalvo , Imhoi Koo , Victor Ruiz-Velasco , Elisa A. Bradley

Background

Morbidity and mortality in idiopathic pulmonary arterial hypertension (iPAH) are linked to right ventricular failure (RVF), a condition characterized by a metabolic shift from fatty acid oxidation (FAO) to glycolysis. Eisenmenger Syndrome (ES), a unique form of PAH, is associated with a mortality paradox, yet the mechanism for better survival in this condition remains poorly understood.

Objectives

We postulated that beneficial changes in long chain fatty acid (LCFA) utilization may support right ventricular (RV) adaptations in ES, and therefore ssupport favorable RV function and improved morbidity and mortality when compared to iPAH.

Methods

We examined clinical and metabolomic data to identify potential mechanistic clues about RV function and morbidity/mortality in controls, iPAH, and ES subjects.

Results

In a small cohort with iPAH (n = 3) or ES (n = 3) clinical data demonstrated worse hemodynamic disease in ES (mean pulmonary artery/mPA pressure 90 ± 6 vs. 50 ± 4 mmHg, p < 0.001), with better clinical compensation (resting heart rate 81 ± 6 vs. 105 ± 6 bpm, p ≤ 0.05 and lower brain natriuretic peptide levels 11 ± 6 pg/dL vs. 71 ± 18 pg/dL, p < 0.01). Metabolomic analysis demonstrated that 97 circulating lipids were significantly different between iPAH and ES. Plasma concentration of LCFAs (Stearate, Palmitate, Oleate, Lineolate) were significantly reduced in ES compared to iPAH, and all but Lineolate were also reduced when compared to non-PAH control samples, suggesting there may be an advantageous compensatory increase in LCFA utilization (FAO) in ES. Plasma tricarboxylic acid (TCA) cycle metabolites were significantly increased in ES compared to iPAH, supporting that compensatory augmentation of FAO occurs in ES, but not likely in RV failure from iPAH.

Conclusions

Our preliminary data in ES differs importantly and unexpectedly from left ventricular and RV failure, in that circulating LCFA utilization appears to be increased. Further, TCA cycle activity is increased in ES, supporting that mechanisms which preserve or enhance LCFA utilization may ultimately preferentially support FAO for energy production. Further study of the impact of LCFA utilization on RV function in ES and other cohorts will be important to determine the role that metabolic substrates may play in long-term preservation of heart function in unique groups.
特发性肺动脉高压(iPAH)的发病率和死亡率与右心室衰竭(RVF)有关,右心室衰竭的特征是代谢从脂肪酸氧化(FAO)转变为糖酵解。艾森曼格综合征(ES)是PAH的一种独特形式,与死亡率悖论有关,但这种情况下更好的生存机制仍然知之甚少。我们假设长链脂肪酸(LCFA)利用的有益变化可能支持ES患者右心室(RV)的适应性,因此与iPAH相比,支持有利的右心室功能和改善的发病率和死亡率。方法研究临床和代谢组学数据,以确定对照组、iPAH和ES受试者RV功能和发病率/死亡率的潜在机制线索。结果在iPAH (n = 3)或ES (n = 3)小队列中,临床资料显示ES患者血流动力学疾病更严重(平均肺动脉/mPA压90±6 vs 50±4 mmHg, p < 0.001),临床代偿更好(静息心率81±6 vs 105±6 bpm, p≤0.05,低脑钠肽水平11±6 pg/dL vs 71±18 pg/dL, p < 0.01)。代谢组学分析显示,iPAH和ES之间97种循环脂质存在显著差异。与iPAH相比,ES患者血浆中LCFA(硬脂酸盐、棕榈酸盐、油酸盐、亚麻酸盐)的浓度显著降低,与非pah对照样本相比,除了亚麻酸盐外,所有LCFA的浓度也都降低了,这表明ES患者的LCFA利用率可能有有利的代偿性增加(FAO)。与iPAH相比,ES患者血浆三羧酸(TCA)循环代谢物显著增加,这支持了粮农组织代偿性增强发生在ES中,但不太可能发生在iPAH引起的RV衰竭中。结论ES的初步数据与左心室和右心室衰竭有显著的不同,循环LCFA的使用似乎增加了。此外,三羧酸循环活动在ES中有所增加,支持维持或加强低羧酸利用的机制最终可能优先支持粮农组织的能源生产。进一步研究LCFA使用对ES和其他队列中右心室功能的影响,对于确定代谢底物在特殊群体中长期维持心功能可能发挥的作用将是重要的。
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引用次数: 0
Long-term outcomes of pulmonary valve replacement in infancy: Time for a reassessment? 婴儿肺动脉瓣置换术的长期结果:是时候重新评估了?
IF 0.8 Q4 PEDIATRICS Pub Date : 2026-01-01 DOI: 10.1016/j.ppedcard.2025.101901
Almontasser Bella Kassier , Abdelrahman Masri , Hasan Iqfat , Ahmed Zaghw , Caroline Yunhua Shi , Lazaros K. Kochilas , Amna Qasim , Taufiek Konrad Rajab

Background

Congenital heart disease (CHD) is one of the leading causes of morbidity and mortality in children. Among these conditions, pulmonary valve (PV) defects may occur as isolated lesions or as part of more complex cardiac malformations. Pulmonary valve replacement (PVR) is a common surgical intervention; however, data on its long-term outcomes in neonates and infants remain limited, particularly given the influence of patient growth on prosthetic performance.

Objectives

To evaluate the long-term outcomes and durability of pulmonary valve replacement in neonates and infants.

Methods

A retrospective review was conducted of 62 neonates and infants who underwent PVR across 22 centers over a 25-year period. Surgical outcomes, long-term follow-up data, and the need for reoperation were analyzed. Complete long-term outcome records were available for 22 patients.

Results

The study demonstrated variable long-term durability of PVR in neonates and infants, with several patients requiring reoperation during follow-up. Factors such as somatic growth and prosthetic valve limitations appeared to contribute to the need for subsequent interventions.

Conclusion

These findings highlight the need to reassess current strategies for pulmonary valve replacement. Alternative approaches, including partial heart transplantation, may offer improved long-term outcomes for this patient population and warrant further investigation.
背景先天性心脏病(CHD)是儿童发病和死亡的主要原因之一。在这些情况下,肺动脉瓣(PV)缺陷可能是孤立的病变,也可能是更复杂的心脏畸形的一部分。肺动脉瓣置换术(PVR)是一种常见的手术干预;然而,关于新生儿和婴儿长期预后的数据仍然有限,特别是考虑到患者生长对假体性能的影响。目的评价新生儿和婴儿肺动脉瓣置换术的远期疗效和持久性。方法回顾性分析了22个中心在25年内接受PVR的62名新生儿和婴儿。分析手术结果、长期随访资料及再次手术的必要性。22例患者有完整的长期预后记录。结果该研究显示新生儿和婴儿PVR的长期持久性不同,随访期间有几例患者需要再次手术。诸如躯体生长和假体瓣膜限制等因素似乎促成了后续干预的需要。结论:这些发现强调了重新评估当前肺瓣膜置换术策略的必要性。包括部分心脏移植在内的替代方法可能会改善这类患者的长期预后,值得进一步研究。
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引用次数: 0
The prevalence of QRS fragmentation in children with acute myocarditis: Single center experience 急性心肌炎患儿QRS片段化的患病率:单中心经验
IF 0.8 Q4 PEDIATRICS Pub Date : 2026-01-01 DOI: 10.1016/j.ppedcard.2026.101904
Khalifah A. Aldawsari , Claudia Mattos , Becky Li , Mubeena Abdulkarim , Michael Lopez

Background

Acute myocarditis in children presents with a broad spectrum of clinical features, often delaying diagnosis. Fragmented QRS (fQRS) is an emerging EKG finding associated with various cardiac conditions.

Objectives

This study aimed to investigate the prevalence and significance of fQRS in children with acute myocarditis.

Methods

Patients less than 18 years of age who presented to our institution between April 2012 and January 2023 with a discharge diagnosis of acute myocarditis were included. Demographic and clinical data, as well as EKG and imaging results, were retrospectively reviewed. fQRS was defined as the presence of an additional R wave (R’) or notching in the nadir of the S wave or the presence of more than 1 R’ in at least 2 contiguous leads corresponding to the cardiac regions.

Results

99 patients (median age 13 years; 76% male). Chest pain was the most common presenting symptom (74.7%). At presentation, 20.2% (95% CI: 12.8–29.5) exhibited fQRS, predominantly in inferior leads. Median follow-up was 403 days, during which 3 patients (15% of those with positive fQRS) had persistent fQRS despite being clinically asymptomatic. On univariate regression, younger age was significantly associated with fQRS at presentation (p = 0.043). No associations were found with biomarkers, echocardiographic parameters, or outcomes.

Conclusion

fQRS is an additional EKG finding that may assist in diagnosing acute myocarditis, particularly in younger children. While fQRS may support the diagnosis of myocarditis, it was not associated with disease severity or prognosis. Larger studies are warranted to clarify its role.
儿童急性心肌炎具有广泛的临床特征,往往延迟诊断。碎片化QRS (fQRS)是一种与各种心脏疾病相关的新兴心电图发现。目的探讨fQRS在急性心肌炎患儿中的患病率及意义。方法纳入2012年4月至2023年1月期间以急性心肌炎出院的18岁以下患者。回顾性回顾了人口统计学和临床资料,以及心电图和影像学结果。fQRS被定义为在S波的最低点存在一个额外的R波(R′)或缺口,或在与心脏区域相对应的至少2个连续导联中存在1个以上的R′。结果99例患者(中位年龄13岁,76%为男性)。胸痛是最常见的症状(74.7%)。在就诊时,20.2% (95% CI: 12.8-29.5)表现出fQRS,主要是在较差导联。中位随访时间为403天,其中3例患者(占fQRS阳性患者的15%)尽管临床无症状,但仍存在持续性fQRS。在单变量回归中,较年轻的年龄与就诊时的fQRS显著相关(p = 0.043)。未发现与生物标志物、超声心动图参数或结果相关。结论fqrs是一项额外的心电图发现,可能有助于诊断急性心肌炎,特别是在年幼的儿童中。虽然fQRS可能支持心肌炎的诊断,但它与疾病严重程度或预后无关。需要更大规模的研究来阐明其作用。
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引用次数: 0
The first six international conferences on cardiomyopathy in children: Beginning with the end in mind 前六届儿童心肌病国际会议:以终为始
IF 0.8 Q4 PEDIATRICS Pub Date : 2025-12-09 DOI: 10.1016/j.ppedcard.2025.101900
Steven E. Lipshultz , Thomas D. Ryan , Leah C. Mumm , Teresa M. Lee
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引用次数: 0
Yasui procedure results: A multicenter retrospective study 结果:一项多中心回顾性研究
IF 0.8 Q4 PEDIATRICS Pub Date : 2025-12-01 DOI: 10.1016/j.ppedcard.2025.101884
Ilya A. Soynov , Artem V. Gorbatykh , Ekaterina N. Amansakhatova , Aleksey N. Arkhipov , Anton A. Avramenko , Dmitriy V. Gorbunov , Evgeniy V. Grekhov , Konstantin B. Kazantsev , Vladislav G. Kolbik , Yuriy Y. Kulyabin , Yury I. Linnik , Serezha N. Manukian , Ruben R. Movsesyan , Nataliya R. Nichay , Denis Y. Petrushenko , Mikhail V. Plotnikov , Pavel V. Teplov , Igor A. Kornilov , Konstantin Drozdovski

Background

Aortic atresia or stenosis with ventricular septal defect (VSD) is a rare congenital heart defect. In 1987, Yasui introduced a biventricular repair for severe subaortic obstruction and subaortic VSD. Contemporary series report early mortality <15 %. Comparative inferences by surgical strategy remain limited by small samples, with the largest published series including 25 patients.

Objectives

To evaluate the outcomes and complications following primary versus staged Yasui procedures.

Methods

Retrospective multicenter study included 26 patients who underwent the Yasui procedure at 10 cardiac surgery centers in Russia, Belarus, and Kazakhstan (2008–2023).

Results

There were no deaths in the primary Yasui group; 12-month survival in the staged Yasui group was 76.9 % (95 % CI: 54 %–88 %, p = 0.08). Freedom from reoperation at 92 months was 58.9 % (95 % CI: 23.5 %–82.4 %) in the primary Yasui group and 34.0 % (95 % CI: 9.1 %–61.6 %) in the staged group. Freedom from left ventricular outflow tract obstruction (LVOT) at 60 months was 76 % (95 % CI: 30.7 %–93.9 %) in the primary Yasui group and 57 % (95 % CI: 21.7 %–81.5 %) in the staged Yasui group.

Conclusions

In this multicenter descriptive series, biventricular repair using the Yasui procedure was feasible and associated with low early mortality in selected patients with hypoplastic left heart syndrome (HLHS) and associated VSD. Within the limits of this small retrospective cohort, surgical strategy (primary vs staged Yasui) did not appear to affect mortality, reoperation, or the incidence of LVOT obstruction.
背景:主动脉闭锁或狭窄合并室间隔缺损(VSD)是一种罕见的先天性心脏缺陷。1987年,Yasui引入双心室修复术治疗严重的主动脉下梗阻和主动脉下室间隔缺损。当代系列报道早期死亡率<; 15%。手术策略的比较推断仍然受到小样本的限制,最大的已发表系列包括25例患者。目的评价初次与分期Yasui手术的预后和并发症。方法回顾性多中心研究纳入俄罗斯、白俄罗斯和哈萨克斯坦10家心脏外科中心(2008-2023)行Yasui手术的26例患者。结果原发性安井组无死亡病例;分期安井组12个月生存率为76.9% (95% CI: 54% - 88%, p = 0.08)。92个月时,初级Yasui组的再手术成功率为58.9% (95% CI: 23.5% - 82.4%),分期组为34.0% (95% CI: 9.1% - 61.6%)。60个月时,原发性安井组左心室流出道梗阻(LVOT)的解除率为76% (95% CI: 30.7% - 93.9%),分期安井组为57% (95% CI: 21.7% - 81.5%)。结论在这个多中心的描述系列研究中,采用Yasui手术进行双心室修复是可行的,并且与选定的左心发育不全综合征(HLHS)和相关室间隔缺损患者的低早期死亡率相关。在这个小型回顾性队列的范围内,手术策略(原发性与分期性Yasui)似乎没有影响死亡率、再手术或LVOT阻塞的发生率。
{"title":"Yasui procedure results: A multicenter retrospective study","authors":"Ilya A. Soynov ,&nbsp;Artem V. Gorbatykh ,&nbsp;Ekaterina N. Amansakhatova ,&nbsp;Aleksey N. Arkhipov ,&nbsp;Anton A. Avramenko ,&nbsp;Dmitriy V. Gorbunov ,&nbsp;Evgeniy V. Grekhov ,&nbsp;Konstantin B. Kazantsev ,&nbsp;Vladislav G. Kolbik ,&nbsp;Yuriy Y. Kulyabin ,&nbsp;Yury I. Linnik ,&nbsp;Serezha N. Manukian ,&nbsp;Ruben R. Movsesyan ,&nbsp;Nataliya R. Nichay ,&nbsp;Denis Y. Petrushenko ,&nbsp;Mikhail V. Plotnikov ,&nbsp;Pavel V. Teplov ,&nbsp;Igor A. Kornilov ,&nbsp;Konstantin Drozdovski","doi":"10.1016/j.ppedcard.2025.101884","DOIUrl":"10.1016/j.ppedcard.2025.101884","url":null,"abstract":"<div><h3>Background</h3><div>Aortic atresia or stenosis with ventricular septal defect (VSD) is a rare congenital heart defect. In 1987, Yasui introduced a biventricular repair for severe subaortic obstruction and subaortic VSD. Contemporary series report early mortality &lt;15 %. Comparative inferences by surgical strategy remain limited by small samples, with the largest published series including 25 patients.</div></div><div><h3>Objectives</h3><div>To evaluate the outcomes and complications following primary versus staged Yasui procedures.</div></div><div><h3>Methods</h3><div>Retrospective multicenter study included 26 patients who underwent the Yasui procedure at 10 cardiac surgery centers in Russia, Belarus, and Kazakhstan (2008–2023).</div></div><div><h3>Results</h3><div>There were no deaths in the primary Yasui group; 12-month survival in the staged Yasui group was 76.9 % (95 % CI: 54 %–88 %, <em>p</em> = 0.08). Freedom from reoperation at 92 months was 58.9 % (95 % CI: 23.5 %–82.4 %) in the primary Yasui group and 34.0 % (95 % CI: 9.1 %–61.6 %) in the staged group. Freedom from left ventricular outflow tract obstruction (LVOT) at 60 months was 76 % (95 % CI: 30.7 %–93.9 %) in the primary Yasui group and 57 % (95 % CI: 21.7 %–81.5 %) in the staged Yasui group.</div></div><div><h3>Conclusions</h3><div>In this multicenter descriptive series, biventricular repair using the Yasui procedure was feasible and associated with low early mortality in selected patients with hypoplastic left heart syndrome (HLHS) and associated VSD. Within the limits of this small retrospective cohort, surgical strategy (primary vs staged Yasui) did not appear to affect mortality, reoperation, or the incidence of LVOT obstruction.</div></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"79 ","pages":"Article 101884"},"PeriodicalIF":0.8,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145623009","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Anthropometry and nutritional status of pediatric patients with congenital heart defects at a secondary hospital in North Aceh, Indonesia: A retrospective chart review 印度尼西亚北亚齐一家二级医院先天性心脏病患儿的人体测量和营养状况:回顾性图表回顾
IF 0.8 Q4 PEDIATRICS Pub Date : 2025-11-22 DOI: 10.1016/j.ppedcard.2025.101896
Julia Fitriany , Nora Maulina , Mauliza , Sri Wahyuni , Muhammad Yasin

Background

Children with congenital heart defects (CHD) are at heightened risk of growth faltering due to increased metabolic demand, feeding difficulties, and infections, yet regional anthropometric data from Aceh are scarce.

Objective

To describe the anthropometric profiles and nutritional status of pediatric patients aged 0–18 years with CHD at RSUD Cut Meutia, North Aceh, Indonesia, from January 2021 to October 2024.

Methods

We conducted a retrospective chart review of children aged 0–18 years with echocardiography-confirmed CHD managed at a secondary referral hospital in North Aceh. Weight, length/height, and body mass index were converted to age-appropriate z-scores using World Health Organization growth standards and references. Nutritional categories were summarized descriptively across age groups and by CHD type.

Results

A total of 102 children were analyzed; 62.7 % were aged 0–5 years, and sex distribution was balanced (51 males, 51 females). Acyanotic CHD predominated (87.3 %), driven by patent ductus arteriosus (39.2 %) and ventricular septal defect (21.6 %); cyanotic CHD accounted for 12.7 %. Among children <5 years, 46.9 % were severely underweight, 50.0 % severely stunted, and 28.1 % severely wasted. Despite this, 54.7 % of <5-year-olds were in the normal BMI-for-age range. Among 5–18-year-olds, 31.6 % were severely thin and 44.7 % had normal BMI-for-age. The divergence between BMI-for-age and weight- and length/height-based indices suggests that reliance on BMI alone may under-detect chronic deficits.

Conclusion

In this single-center cohort, acyanotic lesions predominated and substantial malnutrition was evident—particularly in children <5 years. These findings support timely hemodynamic assessment and correction of significant left-to-right shunts, structured energy- and protein-dense nutrition support from diagnosis, and integrated growth monitoring using multiple WHO indices. Given missing clinical modifiers and unequal group sizes, results are descriptive and hypothesis-generating; multicenter prospective studies are needed.
由于代谢需求增加、喂养困难和感染,患有先天性心脏缺陷(CHD)的儿童生长迟缓的风险较高,但亚齐省的区域人体测量数据很少。目的研究2021年1月至2024年10月期间,印度尼西亚北亚齐省切梅蒂亚RSUD医院0-18岁CHD患儿的人体测量特征和营养状况。方法:我们对在北亚齐省一家二级转诊医院治疗的0-18岁超声心动图确诊的冠心病患儿进行回顾性图表分析。使用世界卫生组织的生长标准和参考文献,将体重、长度/身高和体重指数转换为适合年龄的z分数。根据不同年龄组和冠心病类型对营养类别进行描述性总结。结果共分析102例患儿;年龄0 ~ 5岁占62.7%,性别分布均衡(男51例,女51例)。无肺型冠心病以动脉导管未闭(39.2%)和室间隔缺损(21.6%)为主(87.3%);紫绀型冠心病占12.7%。在5岁儿童中,46.9%严重体重不足,50.0%严重发育迟缓,28.1%严重消瘦。尽管如此,54.7%的5岁儿童在正常的年龄bmi范围内。在5 - 18岁的青少年中,31.6%的人严重消瘦,44.7%的人bmi正常。年龄BMI指数与体重和身高指数之间的差异表明,仅依赖BMI可能无法发现慢性缺陷。结论:在这个单中心队列中,无胞质病变占主导地位,严重的营养不良很明显,特别是在5岁以下的儿童中。这些发现支持及时进行血液动力学评估和纠正显著的左向右分流,从诊断中提供结构化的能量和蛋白质密集营养支持,以及使用多个世卫组织指数进行综合生长监测。由于缺少临床修饰因子和不相等的组大小,结果是描述性的和假设生成;需要多中心前瞻性研究。
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引用次数: 0
Ductal stenting in a neonate with double aortic arch, pulmonary atresia, and ventricular septal defect without airway compression 导管支架置入术治疗双主动脉弓、肺动脉闭锁、室间隔缺损的新生儿,无气道压迫
IF 0.8 Q4 PEDIATRICS Pub Date : 2025-11-21 DOI: 10.1016/j.ppedcard.2025.101894
Naif Alkhushi

Background

Double aortic arch (DAA) associated with pulmonary atresia and ventricular septal defect (PA/VSD) is an extremely rare cardiac anomaly. This combination poses unique diagnostic and interventional challenges.

Case presentation

A full-term male neonate developed cyanosis shortly after birth. Echocardiography and computed tomography (CT) revealed a balanced DAA with PA/VSD, confluent pulmonary arteries without major aortopulmonary collateral arteries (MAPCAs), and no evidence of airway or esophageal compression. Fluorescence in situ hybridization (FISH) confirmed a 22q11.2 microdeletion. Given the absence of tracheoesophageal compression, initial palliation with ductal stenting was performed, and definitive surgical repair was deferred until 4–6 months of age to avoid thoracotomy during the vulnerable neonatal period.

Conclusion

In neonates with DAA associated with PA/VSD, the presence of confluent pulmonary arteries and absence of tracheoesophageal compression make ductal stenting a feasible and less invasive alternative to surgical palliation during the neonatal period.
背景:双主动脉弓(DAA)合并肺动脉闭锁和室间隔缺损(PA/VSD)是一种极为罕见的心脏异常。这种组合给诊断和介入治疗带来了独特的挑战。一例足月男婴出生后不久出现紫绀。超声心动图和计算机断层扫描(CT)显示DAA平衡,PA/VSD,肺动脉汇合,无主动脉-肺动脉副支(MAPCAs),无气道或食管压迫的证据。荧光原位杂交(FISH)证实了22q11.2微缺失。考虑到没有气管食管压迫,最初采用导管支架进行姑息治疗,最终手术修复推迟到4-6个月大,以避免在脆弱的新生儿时期开胸。结论在DAA合并PA/VSD的新生儿中,存在肺动脉融合和没有气管食管压迫使得导管支架置入术在新生儿期是一种可行的、侵入性较小的手术缓解方法。
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引用次数: 0
Iatrogenic neonatal Takotsubo syndrome induced by high-dose inotropic agents: A case report 大剂量肌力药物致医源性新生儿Takotsubo综合征1例
IF 0.8 Q4 PEDIATRICS Pub Date : 2025-11-21 DOI: 10.1016/j.ppedcard.2025.101895
Ching-Ming Lin , Kuo-Jen Lu , Wen-Hsien Lu
Takotsubo syndrome is a transient cardiac condition characterized by reversible left ventricular dysfunction, commonly seen in adults under extreme stress. Its occurrence in neonates is exceedingly rare. We report a premature female neonate who developed classic echocardiographic features of Takotsubo syndrome following high-dose inotropic support. Withdrawal of catecholamines led to rapid hemodynamic stabilization and full recovery of ventricular function. This case highlights the need for awareness of this condition in neonatal intensive care settings.
Takotsubo综合征是一种以可逆性左心室功能障碍为特征的短暂性心脏疾病,常见于极度压力下的成年人。它在新生儿中的发生极为罕见。我们报告了一个早产的女性新生儿,她在大剂量肌力支持后出现了Takotsubo综合征的经典超声心动图特征。儿茶酚胺的停用使血流动力学迅速稳定,心室功能完全恢复。本病例强调了在新生儿重症监护环境中对这种情况的认识的必要性。
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引用次数: 0
A case of SMAD6 gene variant and descriptive brief insights into genetics of aortic valve disease SMAD6基因变异1例及对主动脉瓣疾病遗传学的简要描述
IF 0.8 Q4 PEDIATRICS Pub Date : 2025-11-19 DOI: 10.1016/j.ppedcard.2025.101889
Snehal Mallakmir , Bhushan Chavan , Shilpa Kamble

Aim

Indian reports on the genetic etiology of aortopathy are scarce, and insights into this subject are needed.

Method

We report a case of a 12-year-old boy with a bicuspid valve and a dilated ascending aorta with a heterozygous pathogenic variation in the SMAD6 gene. We conducted a PUBMED and OMIM literature search on genetic evaluation in aortopathy and/or aortic valve disease.

Results

Heterozygous indel in the SMAD6 gene, resulting in a frameshift-insertion and premature truncation of the protein, was detected in our patient, which has not been reported before. SMAD6 has emerged as an important contributor to aortic disease recently, along with other genes, and a brief review is presented here.
关于主动脉病变的遗传病因的报道很少,需要深入了解这一主题。方法我们报告一例12岁的男孩,患有二尖瓣和升主动脉扩张,并伴有SMAD6基因杂合致病性变异。我们对主动脉病变和/或主动脉瓣疾病的遗传评价进行了PUBMED和OMIM文献检索。结果在我们的患者中检测到SMAD6基因的杂合缺失,导致该蛋白的帧移插入和过早截断,这在以前没有报道过。最近,SMAD6与其他基因一起被认为是主动脉疾病的重要因素,在此简要回顾一下。
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引用次数: 0
Cerebral and end-organ protection outcomes following the Norwood procedure: A retrospective cohort study 诺伍德手术后的脑和终末器官保护结果:一项回顾性队列研究
IF 0.8 Q4 PEDIATRICS Pub Date : 2025-11-14 DOI: 10.1016/j.ppedcard.2025.101893
O.S. Anikina , I.A. Soynov , Yu.Yu. Kulyabin , E.N. Amansakhatova , I.A. Velyukhanov , A.N. Arkhipov , S.M. Ivanzov , S.N. Manukian , I.A. Kornilov

Background

Hypoplastic left heart syndrome (HLHS) remains one of the most challenging congenital heart defects, and the Norwood procedure is the cornerstone of first-stage palliation. Two perfusion strategies - deep hypothermic circulatory arrest (DHCA) and selective antegrade cerebral perfusion (SACP) - are widely used during aortic arch reconstruction. However, comparative evidence regarding cerebral and end-organ protection in neonates is inconsistent.

Objectives

To evaluate end-organ protection outcomes associated with SACP versus DHCA during the Norwood procedure.

Methods

We conducted a retrospective single-center cohort study of 93 neonates with HLHS undergoing the Norwood procedure between 2014 and 2025. Patients were divided into two groups: DHCA (n = 45) and SACP (n = 48). Primary endpoint was acute kidney injury (AKI) according to pediatric KDIGO criteria. Secondary endpoints included hospital mortality, neurological injuries.

Results

Overall hospital mortality was 15 % (DHCA 17.7 % vs. SACP 12.5 %, p = 0.566). Ischemic brain lesions were significantly more frequent in the DHCA group (17.8 %) compared to the SACP group (2.1 %, p = 0.013). DHCA duration >45 min identified as a key risk factor of ischemic injury (HR 1.08, 95 % CI 1.02–1.14, p = 0.003). Hemorrhagic brain lesions occurred in 4.4 % (DHCA) vs. 10.4 % (SACP, p = 0.436), low body weight < 2.6 kg was an independent predictor. AKI incidence was higher in the DHCA group (55.5 %) than in the SACP group (33.3 %, p = 0.038). SACP was associated with a lower AKI risk (HR 0.32, 95 % CI 0.12–0.84, p = 0.047), while a vasoactive-inotropic score > 10 within 48 h predicted AKI (HR 1.03, 95 % CI 1.01–1.07, p = 0.019).

Conclusions

In neonates undergoing the Norwood procedure, SACP was associated with lower rates of AKI and ischemic cerebral injury compared to DHCA. Perfusion strategy choice should be considered alongside patient risk factors to optimize outcomes.
背景左心发育不全综合征(HLHS)仍然是最具挑战性的先天性心脏缺陷之一,诺伍德手术是第一阶段姑息治疗的基石。深低温循环停搏(DHCA)和选择性顺行脑灌注(SACP)两种灌注策略在主动脉弓重建中被广泛应用。然而,关于新生儿脑和终末器官保护的比较证据是不一致的。目的评价诺伍德手术中SACP与DHCA的终末器官保护效果。方法对2014年至2025年间93例接受Norwood手术的HLHS新生儿进行回顾性单中心队列研究。患者分为DHCA组(n = 45)和SACP组(n = 48)。根据儿童KDIGO标准,主要终点是急性肾损伤(AKI)。次要终点包括医院死亡率、神经损伤。结果总住院死亡率为15% (DHCA为17.7%,SACP为12.5%,p = 0.566)。DHCA组缺血性脑损伤发生率(17.8%)明显高于SACP组(2.1%,p = 0.013)。DHCA持续时间>;45 min是缺血性损伤的关键危险因素(HR 1.08, 95% CI 1.02-1.14, p = 0.003)。出血性脑损伤发生率为4.4% (DHCA)对10.4% (SACP, p = 0.436),低体重和2.6 kg是独立预测因子。DHCA组AKI发生率(55.5%)高于SACP组(33.3%,p = 0.038)。SACP与较低的AKI风险相关(HR 0.32, 95% CI 0.12-0.84, p = 0.047),而48小时内血管活性-肌力评分>; 10预测AKI (HR 1.03, 95% CI 1.01-1.07, p = 0.019)。结论在接受诺伍德手术的新生儿中,与DHCA相比,SACP与AKI和缺血性脑损伤的发生率较低。灌注策略的选择应与患者的危险因素一起考虑,以优化结果。
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PROGRESS IN PEDIATRIC CARDIOLOGY
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