Annals of Pediatric Cardiology最新文献

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Successful surgical management of cardiac tamponade following direct intrahepatic portosystemic shunt in a child with Budd-Chiari syndrome: A potentially life-threatening situation. 成功通过手术治疗了一名患有巴德-卡氏综合征的儿童肝内门体系统直接分流术后的心脏填塞:可能危及生命的情况。
IF 0.7
Annals of Pediatric Cardiology Pub Date : 2023-09-01 Epub Date: 2024-04-01 DOI: 10.4103/apc.apc_107_23
Anand Kumar Mishra, Meenakshi Mandal, Irshad R Mohamed, Sadhna Lal, Harish Bhujade
{"title":"Successful surgical management of cardiac tamponade following direct intrahepatic portosystemic shunt in a child with Budd-Chiari syndrome: A potentially life-threatening situation.","authors":"Anand Kumar Mishra, Meenakshi Mandal, Irshad R Mohamed, Sadhna Lal, Harish Bhujade","doi":"10.4103/apc.apc_107_23","DOIUrl":"10.4103/apc.apc_107_23","url":null,"abstract":"<p><p>Direct intrahepatic portosystemic shunt is a technique of portocaval shunting performed through the percutaneous route in patients with Budd-Chiari syndrome. Stent migration into right-sided heart chambers or perforations causing hemopericardium and cardiac tamponade is rare and underreported. In a child with a coexisting decompensated liver disease, surgical intervention and cardiopulmonary bypass can be challenging. However, surgical management in these life-threatening situations is better than redo interventions.</p>","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":"16 5","pages":"370-373"},"PeriodicalIF":0.7,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11098295/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141066661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Intermittent flow reversal in the aortic arch. 主动脉弓间歇性血流逆转。
IF 0.7
Annals of Pediatric Cardiology Pub Date : 2023-09-01 Epub Date: 2024-04-01 DOI: 10.4103/apc.apc_101_23
Shyam S Kothari, Nihar Lalitkumar Pathak, Nayan Banerji, Bhavik Champaneri
{"title":"Intermittent flow reversal in the aortic arch.","authors":"Shyam S Kothari, Nihar Lalitkumar Pathak, Nayan Banerji, Bhavik Champaneri","doi":"10.4103/apc.apc_101_23","DOIUrl":"10.4103/apc.apc_101_23","url":null,"abstract":"","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":"16 5","pages":"385-386"},"PeriodicalIF":0.7,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11098285/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141064768","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The paucity of high-level evidence for therapy in pediatric cardiology. 儿科心脏病学治疗缺乏高水平的证据。
IF 0.7
Annals of Pediatric Cardiology Pub Date : 2023-09-01 Epub Date: 2024-04-01 DOI: 10.4103/apc.apc_120_23
Emily Littman, Diana Hsiao, Kanekal S Gautham
{"title":"The paucity of high-level evidence for therapy in pediatric cardiology.","authors":"Emily Littman, Diana Hsiao, Kanekal S Gautham","doi":"10.4103/apc.apc_120_23","DOIUrl":"10.4103/apc.apc_120_23","url":null,"abstract":"<p><strong>Introduction: </strong>Clinical practice should be based on the highest quality of evidence available. Therefore, we aimed to classify publications in the field of pediatric cardiology in the year 2021 based on the level of scientific evidence.</p><p><strong>Materials and methods: </strong>A PubMed search was performed to identify pediatric cardiology articles published in the calendar year 2021. The abstract or manuscript of each study was reviewed. Each study was categorized as high, medium, or low level of evidence based on the study design. Disease investigated, treatment studied, and country of publication were recorded. Randomized control trials (RCTs) in similar fields of neonatology and adult cardiology were identified for comparison. Descriptive statistics were performed on the level of evidence, type of disease, country of publication, and therapeutic intervention.</p><p><strong>Results: </strong>In 2021, 731 studies were identified. A decrease in prevalence for the level of evidence as a function of low, medium, and high was found (50.1%, 44.2%, and 5.8%, respectively). A low level of evidence studies was the majority for all types of cardiac disease identified, including acquired heart disease, arrhythmias, congenital heart disease, and heart failure, and for treatment modalities, including circulatory support, defibrillator, percutaneous intervention, medicine, and surgery. In a subgroup analysis, most high-level evidence studies were from the USA (31%), followed by China (26.2%) and India (14.3%). Comparing RCTs, 21 RCTs were identified in pediatric cardiology compared to 178 in neonatology and 413 in adult ischemic heart disease.</p><p><strong>Conclusions: </strong>There is a great need for the conduct of studies that offer a high level of evidence in the discipline of pediatric cardiology.</p>","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":"16 5","pages":"316-321"},"PeriodicalIF":0.7,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11098293/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141064900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical parameters to predict adverse outcomes in patients with shunt-dependent physiology with a Blalock-Taussig-Thomas shunt. 预测布洛克-陶西格-托马斯分流术分流依赖生理患者不良后果的临床参数。
IF 0.7
Annals of Pediatric Cardiology Pub Date : 2023-09-01 Epub Date: 2024-04-01 DOI: 10.4103/apc.apc_135_23
Saloni P Shah, Rohit S Loomba
{"title":"Clinical parameters to predict adverse outcomes in patients with shunt-dependent physiology with a Blalock-Taussig-Thomas shunt.","authors":"Saloni P Shah, Rohit S Loomba","doi":"10.4103/apc.apc_135_23","DOIUrl":"10.4103/apc.apc_135_23","url":null,"abstract":"<p><p>In patients with shunt-dependent physiology, early risk factor identification can facilitate the prevention of adverse outcomes. This study aims to determine a scoring system to estimate the risk for adverse outcomes after Blalock-Taussig-Thomas shunt placement. Of the 39 neonates with Blalock-Taussig-Thomas shunt placement, 10 experienced the composite outcome. The resulting risk score from clinical and hemodynamic variables attributed 1 point for each of the following: central venous pressure >7.8, serum lactate >1.8 mmol/L, renal oxygen extraction ratio >32, and vasoactive-inotrope score >8.7. A score of 0 was associated with a 0% risk of the composite outcome, a score of 1 or 2 with a 15% risk, and a score of 3 or 4 with a 60% risk. A combination of increased central venous pressure, increased serum lactate, increased renal oxygen extraction ratio, and increased vasoactive-inotrope score are highly accurately associated with the risk of cardiopulmonary arrest, need for extracorporeal membrane oxygenation, or inpatient mortality after a Blalock-Taussig-Thomas shunt in patients with shunt-dependent physiology.</p>","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":"16 5","pages":"345-348"},"PeriodicalIF":0.7,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11098288/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141064787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Lack of "ventricular interdependence" in constrictive pericarditis and atrial septal defect. 缩窄性心包炎和房间隔缺损缺乏 "心室相互依存"。
IF 0.7
Annals of Pediatric Cardiology Pub Date : 2023-09-01 Epub Date: 2024-04-01 DOI: 10.4103/apc.apc_148_23
Maulik Kalyani, Bhavik Champaneri, Shyam S Kothari
{"title":"Lack of \"ventricular interdependence\" in constrictive pericarditis and atrial septal defect.","authors":"Maulik Kalyani, Bhavik Champaneri, Shyam S Kothari","doi":"10.4103/apc.apc_148_23","DOIUrl":"10.4103/apc.apc_148_23","url":null,"abstract":"<p><p>Ventricular interdependence, i.e., reciprocal variations in the left and right ventricle pressures with respiration, is a hallmark of the hemodynamic diagnosis of constrictive pericarditis (CP). Similarly, respiratory variations in the mitral and tricuspid valve Doppler inflow velocities on echocardiogram are very helpful in the diagnosis of CP. We document the absence of such variations in a patient with CP and associated atrial septal defect. It is important to be mindful of this intuitively obvious fact; otherwise, the diagnosis of CP might be missed.</p>","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":"16 5","pages":"360-362"},"PeriodicalIF":0.7,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11098297/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141064829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Survival and outcomes of isolated neonatal ventricular septal defects: A population-based study from a middle-income country. 孤立性新生儿室间隔缺损的存活率和预后:一项基于中等收入国家人口的研究。
IF 0.7
Annals of Pediatric Cardiology Pub Date : 2023-09-01 Epub Date: 2024-04-01 DOI: 10.4103/apc.apc_130_23
Mohd Nizam Mat Bah, Mohd Hanafi Sapian, Mohd Hazman Mohd Anuar, Emieliyuza Yusnita Alias
{"title":"Survival and outcomes of isolated neonatal ventricular septal defects: A population-based study from a middle-income country.","authors":"Mohd Nizam Mat Bah, Mohd Hanafi Sapian, Mohd Hazman Mohd Anuar, Emieliyuza Yusnita Alias","doi":"10.4103/apc.apc_130_23","DOIUrl":"10.4103/apc.apc_130_23","url":null,"abstract":"<p><strong>Background and aims: </strong>Limited data on the survival and outcomes of ventricular septal defect (VSD) in middle-income countries are available. Hence, this study aims to determine the survival and factors associated with mortality among neonatal VSD.</p><p><strong>Materials and methods: </strong>This is a retrospective, population based study of neonates with isolated VSD born between 2009 and 2019. Kaplan-Meier analysis was used to estimate the overall survival. Cox regression analysis was used to determine factors associated with mortality.</p><p><strong>Results: </strong>There were 726 patients studied, with 82 (11%) of them having trisomy 21. The median age of diagnosis and follow-up was 5 days (interquartile range [IQR]: 2-10 days) and 2.3 years (IQR: 0.6-4.8 years), respectively. Of 726, 399 (55%) were perimembranous, 218 (30%) muscular, and 109 (15%) outlet VSD. VSD was small in 309 (42%), moderate in 337 (46%), and large in 80 (11%). Of 726 patients, 189 (26%) had congestive heart failure (CHF) and 52 (7.2%) developed pulmonary hypertension (PHT). Interestingly, one-third of CHF and PHT resolved over time during follow-up. Only 1 (0.1%) patient had infective endocarditis, 38 (5.2%) developed aortic regurgitation, and none had Eisenmenger syndrome. Overall, 149 (20%) needed surgery, 399 (55%) spontaneously closed, and 178 (25%) remained small. The mortality rate was 3.9% (28), 16 (57%) preoperatively, and 11 (39%) due to pneumonia. Trisomy 21, PHT, and birth weight <2.5 kg were independent factors for mortality with an adjusted hazard ratio of 6.0 (95% confidence interval [CI]: 2.1-16.9), 3.2 (95% CI: 1.2-8.4), and 3.6 (95% CI: 1.7-7.8), respectively. The overall survival at 1, 5, and 10 years was 96% (95% CI: 95-98), 95% (95% CI: 94-97), and 95% (95% CI: 94-97), respectively.</p><p><strong>Conclusions: </strong>Despite limited pediatric and congenital cardiac services in middle-income countries, the overall survival of neonatal VSD is good, with poor outcomes in small infants, PHT, and trisomy 21.</p>","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":"16 5","pages":"322-330"},"PeriodicalIF":0.7,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11098291/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141064895","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Double left atrial appendage: A diagnostic dilemma. 双左心房阑尾:诊断难题。
IF 0.7
Annals of Pediatric Cardiology Pub Date : 2023-09-01 Epub Date: 2024-04-01 DOI: 10.4103/apc.apc_136_23
Nilanjan Dutta, Debasis Das, Unmesh Chakraborty, Shubhadeep Das, Manish Kumar Sharma, Shivani Gajpal, Amitabha Chattopadhyay, Sanjiban Ghosh, Jayita Nandy Das
{"title":"Double left atrial appendage: A diagnostic dilemma.","authors":"Nilanjan Dutta, Debasis Das, Unmesh Chakraborty, Shubhadeep Das, Manish Kumar Sharma, Shivani Gajpal, Amitabha Chattopadhyay, Sanjiban Ghosh, Jayita Nandy Das","doi":"10.4103/apc.apc_136_23","DOIUrl":"10.4103/apc.apc_136_23","url":null,"abstract":"<p><p>We report a unique intraoperative finding of an additional double left atrial appendage (LAA) during an arterial switch operation with ventricular septal defect closure in a 4-month-old girl. Immediately after the procedure, a prolapsing mass within the left atrium (LA) on the transesophageal echocardiogram raised concerns of a possible thrombus. The LAA was clearly visible with a pressure monitoring line which was put intraoperatively. To investigate further, cardiopulmonary bypass was resumed, and the heart was arrested and explored. There was an appendage-like structure, separate from the one that had the pressure monitoring line, which was inverted inside. It was pulled out from outside clearly establishing a double LAA. This report illustrates an example of a diagnostic dilemma caused by a double atrial appendage which was invaginated into LA masquerading as a mass or thrombus.</p>","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":"16 5","pages":"378-380"},"PeriodicalIF":0.7,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11098290/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141064766","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Failure to wean off after a routine total anomalous pulmonary venous connection operation: An uncommon association. 常规全异常肺静脉连接手术后断奶失败:一种不常见的关联。
IF 0.7
Annals of Pediatric Cardiology Pub Date : 2023-09-01 Epub Date: 2024-04-01 DOI: 10.4103/apc.apc_165_23
Riddhi Dhanak, Vikram Halder, Ritesh Shah, Amit Mishra, Shyam S Kothari
{"title":"Failure to wean off after a routine total anomalous pulmonary venous connection operation: An uncommon association.","authors":"Riddhi Dhanak, Vikram Halder, Ritesh Shah, Amit Mishra, Shyam S Kothari","doi":"10.4103/apc.apc_165_23","DOIUrl":"10.4103/apc.apc_165_23","url":null,"abstract":"<p><p>A 6-month-old infant was operated on for supracardiac total anomalous pulmonary venous connection (TAPVC) with usual anatomy. The vertical vein was ligated. Weaning from bypass was attempted twice but was unsuccessful. Coronary sinus atresia was suspected and identified on the opening of the right atrium. A smooth postoperative course occurred after unroofing the coronary sinus. Coronary sinus atresia should be remembered as an uncommon association with TAPVC.</p>","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":"16 5","pages":"367-369"},"PeriodicalIF":0.7,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11098298/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141064767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Are children with mitral valve prolapse more anxious? 患有二尖瓣脱垂的儿童更焦虑吗?
IF 0.7
Annals of Pediatric Cardiology Pub Date : 2023-09-01 Epub Date: 2024-04-01 DOI: 10.4103/apc.apc_126_23
Meryem Beyazal, Utku Arman Orun, Ilker Ufuk Sayici
{"title":"Are children with mitral valve prolapse more anxious?","authors":"Meryem Beyazal, Utku Arman Orun, Ilker Ufuk Sayici","doi":"10.4103/apc.apc_126_23","DOIUrl":"10.4103/apc.apc_126_23","url":null,"abstract":"<p><strong>Background: </strong>Mitral valve prolapse (MVP) is a common valvular disease in children. Symptoms in children with MVP are not explained by the severity of mitral regurgitation alone. Hence, we sought to correlate symptom status with the incidence of anxiety disorder in this population.</p><p><strong>Materials and methods: </strong>Groups were as follows: (a) MVP; <i>n</i> = 115; mean age: 13.5 ± 3.06 years and (b) control; <i>n</i> = 53; mean age: 15.1 ± 13.2. The Screen for Child Anxiety-Related Emotional Disorders (SCAREDs) scale was filled by all participants. The SCARED scores of 25 and above determined a warning for anxiety disorders.</p><p><strong>Results: </strong>The mean SCARED scale values of MVP and control groups were 29.2 ± 13.08 and 24.9 ± 14.17, respectively (<i>P</i> = 0.065). Although the SCARED scale score was higher among the MVP patients, no significant difference was found between the groups in terms of the mean SCARED score, or the number of participants with a score of 25 or more. While girls with MVP had higher anxiety scores compared to boys with the disorder, there was no difference with respect to SCARED scores in children with MVP and the general population when analyzed separately by gender. Moreover, the SCARED scale score was significantly higher in symptomatic MVP patients than in asymptomatic cases.</p><p><strong>Conclusion: </strong>Children with MVP did not have higher anxiety scores compared to those without the syndrome. However, MVP patients with higher anxiety scores may benefit from a psychiatric assessment since higher scores correlate with symptoms.</p>","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":"16 5","pages":"331-336"},"PeriodicalIF":0.7,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11098292/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141064708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
SIGIRR gene variants in term newborns with congenital heart defects and necrotizing enterocolitis. 患有先天性心脏缺陷和坏死性小肠结肠炎的足月新生儿中的 SIGIRR 基因变异。
IF 0.7
Annals of Pediatric Cardiology Pub Date : 2023-09-01 Epub Date: 2024-04-01 DOI: 10.4103/apc.apc_30_23
Ekaterina Konstantinovna Zaikova, Aleksandra Vladimirovna Kaplina, Natalia Aleksandrovna Petrova, Tatiana Mikhailovna Pervunina, Anna Aleksandrovna Kostareva, Olga Viktorovna Kalinina
{"title":"<i>SIGIRR</i> gene variants in term newborns with congenital heart defects and necrotizing enterocolitis.","authors":"Ekaterina Konstantinovna Zaikova, Aleksandra Vladimirovna Kaplina, Natalia Aleksandrovna Petrova, Tatiana Mikhailovna Pervunina, Anna Aleksandrovna Kostareva, Olga Viktorovna Kalinina","doi":"10.4103/apc.apc_30_23","DOIUrl":"10.4103/apc.apc_30_23","url":null,"abstract":"<p><strong>Background: </strong>Necrotizing enterocolitis (NEC) is a common gastrointestinal emergency among neonates which is characterized by acute intestinal inflammation and necrosis. The main risk factors for NEC are prematurity, low birth weight, and some preexisting health conditions such as congenital heart defects (CHDs). Investigation of the potential genetic predisposition to NEC is a promising approach that might provide new insights into its pathogenesis. One of the most important proteins that play a significant role in the pathogenesis of NEC is Toll-like receptor 4 (TLR4) which recognizes lipopolysaccharide found in Gram-negative bacteria. In intestinal epithelial cells, a protein encoded by the <i>SIGIRR</i> gene is a major inhibitor of TLR4 signaling. A few <i>SIGIRR</i> variants, including rare p.Y168X and p.S80Y, have already been identified in preterm infants with NEC, but their pathogenic significance remains unclear. This study aimed to investigate the spectrum of <i>SIGIRR</i> genetic variants in term newborns with CHD and to assess their potential association with NEC.</p><p><strong>Methods and results: </strong>A total of 93 term newborns with critical CHD were enrolled in this study, 33 of them developed NEC. <i>SIGIRR</i> genetic variants were determined by Sanger sequencing of all exons. In total, eight <i>SIGIRR</i> genetic variants were identified, two of which were found only in newborns with NEC (<i>P</i> = 0.12). The rare missense p.S80Y (rs117739035) variant in exon 4 was found in two infants with NEC stage IIA. Two infants with NEC stage III and stage IB carried a novel duplication c. 102_121dup (rs552367848) variant in exon 10 that has not been previously associated with any clinical phenotype.</p><p><strong>Conclusions: </strong>The presence of both variants only in neonates who developed NEC, together with earlier published data, may suggest their potential contribution to the risk of developing NEC in term infants with CHD and allow planning larger cohort studies to clarify their relevance.</p>","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":"16 5","pages":"337-344"},"PeriodicalIF":0.7,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11098289/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141064689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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