S M Duignan, K Brennan, E Connolly, A Watson, D Noone, E Dunne, P Gavin, A Flinn, C Ó Maoldomhnaigh, S L Doyle, C J McMahon
{"title":"Single Nucleotide Polymorphisms and Their Association with Coronary Artery Aneurysms and IVIG Resistance in Kawasaki Disease in Ireland.","authors":"S M Duignan, K Brennan, E Connolly, A Watson, D Noone, E Dunne, P Gavin, A Flinn, C Ó Maoldomhnaigh, S L Doyle, C J McMahon","doi":"10.1007/s00246-025-03989-0","DOIUrl":"https://doi.org/10.1007/s00246-025-03989-0","url":null,"abstract":"<p><p>Kawasaki disease (KD) is the leading cause of acquired heart disease in children in developed countries. The exact aetiology remains a mystery but genetics play an important role. Treatment with intravenous immunoglobulin (IVIG) successfully reduces the prevalence of coronary artery aneurysm (CAA) formation, however, IVIG resistance affects 10-20% of patients. We aimed to assess whether single nucleotide polymorphisms (SNPs) which have been associated with KD in other populations are also relevant in our national cohort. Samples were collected via buccal swabs and genotyping was performed using KASP Genotyping Assay at LGC Genomics. Chi-square (χ<sup>2</sup>) analysis or χ<sup>2</sup> analysis for trend were used to examine genotype distributions and allele frequencies. Numerical variables were compared between two groups using the Mann-Whitney U-test and the Kruskal-Wallis test for groups of 3 or more. Of the 39 patients included, the majority were cases of typical KD (82%). A third developed CAA and 31% demonstrated IVIG resistance. Participants harboring the AA genotype of VEGFA rs699947 had a significantly reduced association with coronary lesions and IVIG resistance. Analysis of the CD40 rs1569723 (A/C) revealed an increased risk associated with the C allele for coronary artery lesions and IVIG resistance. We performed the first evaluation of the genetic profile of patients with KD in Ireland. We found that the VEGFA rs699947 C/A polymorphism is protective while the CD40 rs1569723 A/C polymorphism harbors increased risk. This study is the first to correlate the VEGFA rs699947 polymorphism with KD outcomes in the literature.</p>","PeriodicalId":19814,"journal":{"name":"Pediatric Cardiology","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144799868","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alexander J Berthusen, Jochen Gerstner Saucedo, Michal Schäfer, Barry O'Callaghan, Takashi Fujiwara, Lorna P Browne, Gareth Morgan, Alex J Barker
{"title":"Flow Hemodynamics in Children with Tetralogy of Fallot: A Comparison Study of Cardiac Catheterization and Phase-Contrast MRI.","authors":"Alexander J Berthusen, Jochen Gerstner Saucedo, Michal Schäfer, Barry O'Callaghan, Takashi Fujiwara, Lorna P Browne, Gareth Morgan, Alex J Barker","doi":"10.1007/s00246-025-03983-6","DOIUrl":"https://doi.org/10.1007/s00246-025-03983-6","url":null,"abstract":"<p><p>Pulmonary hemodynamics are necessary to measure for lifelong surveillance of cardiovascular function in children with tetralogy of Fallot (TOF). To measure cardiac index, invasive cardiac catheterization using the Fick principle or phase-contrast MRI (PC-MRI) can be used. However, estimates of oxygen consumption and other assumptions used in the Fick method may lead to significant inaccuracy, which are further exacerbated by disease characteristics such as pulmonary regurgitation. By comparison, PC-MRI can directly measure blood flow and regurgitant fraction. To investigate the potential complications of using the Fick principle, flow hemodynamics in 33 repaired TOF patients (7.6 ± 3.9 years) were investigated in patients who underwent cardiac catheterization and cardiac MRI. Pulmonary blood flow (Q<sub>p</sub>) measured by catheterization and PC-MRI showed poor agreement with an absolute bias of 0.80 ± 0.910 L/min/m<sup>2</sup>. Q<sub>p</sub> by Fick was significantly higher than PC-MRI (3.15 ± 0.60 L/min/m<sup>2</sup> vs. 2.35 ± 0.95 L/min/m<sup>2</sup> [p < 0.001]). Patients were also stratified by the presence of severe pulmonary regurgitant fraction (RF > 40%). A mean difference of 1.18L/min/m<sup>2</sup> in Q<sub>p</sub> was found in patients with RF over 40% (n = 18), while patients with RF under 40% (n = 15) had a mean Q<sub>p</sub> difference of 0.34 L/min/m<sup>2</sup> (p = 0.013). PC-MRI may address errors associated with oxygen consumption as well as assumptions affecting Fick in all patient populations. Additional advantages may exist when assessing children with repaired TOF, especially given the common presence of regurgitant pulmonary flow in this population.</p>","PeriodicalId":19814,"journal":{"name":"Pediatric Cardiology","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144795029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rachel O Alade, Jill Glidewell, Elizabeth C Ailes, Emily O Olsen, Karrie F Downing, Janet E Fulton, Matthew E Oster, Sherry L Farr
{"title":"Body Mass Index and Physical Activity Among U.S. Children with Congenital Heart Conditions.","authors":"Rachel O Alade, Jill Glidewell, Elizabeth C Ailes, Emily O Olsen, Karrie F Downing, Janet E Fulton, Matthew E Oster, Sherry L Farr","doi":"10.1007/s00246-025-03980-9","DOIUrl":"https://doi.org/10.1007/s00246-025-03980-9","url":null,"abstract":"<p><p>Guidelines recommend children maintain a healthy body mass index (BMI) and do physical activity. No population-based estimates exist for elevated BMI or insufficient physical activity among children with congenital heart conditions (CHC). We estimated the national prevalence of elevated BMI and insufficient physical activity among children with and without CHC. We analyzed cross-sectional, nationally representative data on 57,080 children aged 6-17 years from the National Survey of Children's Health, 2021-2022. Among children with (N = 1135) and without (N = 55,945) CHC, we estimated prevalence and 95% confidence intervals (CI) for caregiver-reported elevated BMI (≥ 85th percentile for sex and age) and insufficient physical activity (< 60 min of physical activity < 7 days/week). Using multivariable Cox proportional hazards models adjusted for age, sex, ethnicity/race, federal poverty level, and caregiver education, we approximated adjusted prevalence ratios (aPR) and CI for each outcome by CHC status and, separately, by demographics among children with CHC. Children with CHC had a similar prevalence of elevated BMI (31.5%, aPR = 0.97, CI 0.82-1.14) and a slightly higher prevalence of insufficient physical activity (84.0%, aPR = 1.05, CI 1.00-1.09) compared to children without CHC. Among children with CHC, elevated BMI was 1.5-1.6 times higher for Hispanic compared to non-Hispanic White children, those with lower compared to higher household incomes, and those with caregivers with ≤ high school compared to ≥ college education; there were no demographic differences in insufficient physical activity. Pediatricians and cardiologists can support patients with CHC in meeting BMI and physical activity recommendations to improve their long-term cardiovascular outcomes.</p>","PeriodicalId":19814,"journal":{"name":"Pediatric Cardiology","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144775942","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jai Krishan Khurana, Stuart Lipsitz, Diana L Geisser, Katie M Moynihan, Mary P Mullen
{"title":"Neighborhood Child Opportunity Index and Outcomes in Pediatric Pulmonary Hypertension.","authors":"Jai Krishan Khurana, Stuart Lipsitz, Diana L Geisser, Katie M Moynihan, Mary P Mullen","doi":"10.1007/s00246-025-03981-8","DOIUrl":"https://doi.org/10.1007/s00246-025-03981-8","url":null,"abstract":"<p><p>The role of social determinants of health (SDoH) in pediatric pulmonary hypertension (PH) outcomes are inadequately characterized. We hypothesized outcomes differ according to SDoH with increased mortality in those from low Child Opportunity Index (COI) areas or non-local to our center, with public insurance, limited English proficiency and underrepresented races/ethnicities. In a single center, retrospective cohort study, pediatric PH patients with inpatient admission from 2015 to 2022 were identified using ICD-10 codes. Clinical therapies and outcomes were compared by SDoH controlling for clinical factors, admission count, and follow-up length. Of 1735 pediatric PH patients, 232 (13.4%) died. Median time to follow-up/death was 35 days (IQR 8, 241). Median age was 215 days (IQR 14, 1716) with PH groups of pulmonary arterial hypertension (22.9%), left heart disease (40.5%), lung disease (27.0%), thromboembolic (1.3%) and other (8.2%). Patients utilized ECMO (11.3%), lung transplant (1.5%), PDE5 inhibitors (31.7%), prostacyclins (3.1%), endothelin receptor antagonists (4.2%), and inhaled nitric oxide (34.9%). Therapy use did not differ by COI or race/ethnicity. Decedents had lower COI than survivors (median 61.5 vs. 69.0 p = 0.002). Mortality differed by insurance (15.5% public vs 11.7% private, p = 0.022) and race/ethnicity (highest [19.6%] in children with Black/African American race p < 0.001). 10-point COI increases had 7% lower adjusted mortality odds (95%CI 0.873, 0.987, p = 0.009). Children with Black/African American race had higher adjusted mortality odds (1.94 95%CI 1.2, 3.2 p = 0.012). In pediatric PH, lower COI and Black/African American race are independently associated with greater mortality. Findings highlight importance of studying SDoH in pediatric PH.</p>","PeriodicalId":19814,"journal":{"name":"Pediatric Cardiology","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144768924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pediatric CardiologyPub Date : 2025-08-01Epub Date: 2024-06-27DOI: 10.1007/s00246-024-03561-2
Rodrigo M Carrillo-Larco
{"title":"Recognition of Patient Gender: A Machine Learning Preliminary Analysis Using Heart Sounds from Children and Adolescents.","authors":"Rodrigo M Carrillo-Larco","doi":"10.1007/s00246-024-03561-2","DOIUrl":"10.1007/s00246-024-03561-2","url":null,"abstract":"<p><p>Research has shown that X-rays and fundus images can classify gender, age group, and race, raising concerns about bias and fairness in medical AI applications. However, the potential for physiological sounds to classify sociodemographic traits has not been investigated. Exploring this gap is crucial for understanding the implications and ensuring fairness in the field of medical sound analysis. We aimed to develop classifiers to determine gender (men/women) based on heart sound recordings and using machine learning (ML). Data-driven ML analysis. We utilized the open-access CirCor DigiScope Phonocardiogram Dataset obtained from cardiac screening programs in Brazil. Volunteers < 21 years of age. Each participant completed a questionnaire and underwent a clinical examination, including electronic auscultation at four cardiac points: aortic (AV), mitral (MV), pulmonary (PV), and tricuspid (TV). We used Mel-frequency cepstral coefficients (MFCCs) to develop the ML classifiers. From each patient and from each auscultation sound recording, we extracted 10 MFCCs. In sensitivity analysis, we additionally extracted 20, 30, 40, and 50 MFCCs. The most effective gender classifier was developed using PV recordings (AUC ROC = 70.3%). The second best came from MV recordings (AUC ROC = 58.8%). AV and TV recordings produced classifiers with an AUC ROC of 56.4% and 56.1%, respectively. Using more MFCCs did not substantially improve the classifiers. It is possible to classify between males and females using phonocardiogram data. As health-related audio recordings become more prominent in ML applications, research is required to explore if these recordings contain signals that could distinguish sociodemographic features.</p>","PeriodicalId":19814,"journal":{"name":"Pediatric Cardiology","volume":" ","pages":"1468-1473"},"PeriodicalIF":1.4,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141470046","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pediatric CardiologyPub Date : 2025-08-01Epub Date: 2024-07-14DOI: 10.1007/s00246-024-03576-9
Kristin Laraja, Laura Mansfield, Kristin Lombardi, Sara Ford, Lindsey Simoncini, Tiffany Moore Simas
{"title":"A Novel Approach to Mentorship in Pediatric Cardiology: A Group for Women.","authors":"Kristin Laraja, Laura Mansfield, Kristin Lombardi, Sara Ford, Lindsey Simoncini, Tiffany Moore Simas","doi":"10.1007/s00246-024-03576-9","DOIUrl":"10.1007/s00246-024-03576-9","url":null,"abstract":"<p><p>Gender disparities for female physicians in academic medicine are longstanding. Female pediatric cardiologists experience inequities in scholarship opportunities, promotion, leadership positions, and compensation. Mentorship groups have been successfully implemented in other subspecialities with promising results. We created a peer mentorship group for female pediatric cardiologists in the Northeast and completed a needs assessment survey of eligible participants. Our goal was to better understand the current challenges and identify resources to overcome these barriers. Our objectives were to (1) describe the creation of a novel mentorship program for female pediatric cardiologists and trainees in the Northeast United States, and (2) report the results of a formal needs assessment survey of all eligible participants. All female pediatric cardiology fellows and practicing pediatric and adult congenital heart disease specialists from 15 academic centers in New England were invited to join a free group with virtual meetings. A formal needs assessment survey was provided electronically to all eligible members. The vast majority of respondents agreed that the Women in Pediatric Cardiology (WIPC) group is a valuable networking and mentorship experience (90%) and would recommend this group to a colleague (95%). Members have witnessed or experienced inequities in a broad range of settings. Common challenges experienced by respondents include dependent care demands, lack of mentorship, inadequate research support, and inequitable clinical responsibilities. Resources suggested to overcome these barriers include mentorship, sponsorship, transparency in compensation, and physician coaching. Mentorship groups have the potential to address many challenges faced by women in medicine. The WIPC Northeast program provides a forum for community, collaboration, education, and scholarship.</p>","PeriodicalId":19814,"journal":{"name":"Pediatric Cardiology","volume":" ","pages":"1608-1615"},"PeriodicalIF":1.4,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141603930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pediatric CardiologyPub Date : 2025-08-01Epub Date: 2024-07-10DOI: 10.1007/s00246-024-03574-x
Ahmad Khalil, David Stone, John Dysart, Anas Taqatqa
{"title":"Bicuspid Aortic Valve Function and Aortopathy on Presentation and Progression in Children: Does Sex Difference Have Any Implications?","authors":"Ahmad Khalil, David Stone, John Dysart, Anas Taqatqa","doi":"10.1007/s00246-024-03574-x","DOIUrl":"10.1007/s00246-024-03574-x","url":null,"abstract":"<p><p>Bicuspid aortic valve (BAV) is the most common congenital heart defect. It can be accompanied by aortic regurgitation or stenosis with aortopathies. Studies in adults showed a sex difference, but there are limited number of reports in the pediatric population. To evaluate the difference in bicuspid aortic valve morphology and functionality between sexes, and the presence and progression of aortopathies, a retrospective chart review study was performed at a tertiary referral care center in the Midwest. In our study, we analyzed a cohort of 476 pediatric patients diagnosed with BAV who presented between January 2007 and February 2018. During the follow-up period spanning 2 to 10 years, male patients (n = 314, 66%) had larger aortic valve annulus (AVA) and sinus of Valsalva (SOV) at the time of initial presentation with more likelihood for progression. In the subgroup analysis, the larger SOV in males was observed in isolated BAV patients without genetic syndromes or cardiac malformations, and there were no significant differences between both sexes in the ascending aorta dimension, valve functionality, valve morphology, and the need for intervention in any of the studied groups. As such, these findings may alter the follow-up focus and frequency for patients with BAV, particularly before adulthood, and warrant further studies.</p>","PeriodicalId":19814,"journal":{"name":"Pediatric Cardiology","volume":" ","pages":"1600-1607"},"PeriodicalIF":1.4,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141580456","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pediatric CardiologyPub Date : 2025-08-01Epub Date: 2024-07-20DOI: 10.1007/s00246-024-03585-8
Aditi Gupta, Luciana Da Silva, Li Wang, Carlos E Diaz-Castrillon, Craig P Dobson, Jose Da Silva, Laura J Olivieri, Tarek Alsaied, Adam Christopher
{"title":"Assessing Left Ventricular Pathology in Patients with Ebstein Anomaly Using Cardiovascular Magnetic Resonance: Looking Past the Right Heart.","authors":"Aditi Gupta, Luciana Da Silva, Li Wang, Carlos E Diaz-Castrillon, Craig P Dobson, Jose Da Silva, Laura J Olivieri, Tarek Alsaied, Adam Christopher","doi":"10.1007/s00246-024-03585-8","DOIUrl":"10.1007/s00246-024-03585-8","url":null,"abstract":"<p><p>Ebstein Anomaly (EA) is a malformation of the right heart, but there is data to suggest that the left ventricle (LV) can suffer from intrinsic structural and functional abnormalities which affect surgical outcomes. The LV in patients with EA is hypertrabeculated with abnormalities in LV function and strain. In this retrospective single-center study, patients with EA who underwent pre-operative cardiac MRI (CMR) between the periods of 2014-2024 were included along with a group of healthy-age-matched controls. Left ventricular and right ventricular volume, function and strain analyses were performed on standard SSFP imaging. LV noncompacted: compacted (NC/C) ratio and the displacement index of the tricuspid valve were measured. Forty-seven EA patients were included with mean age of 21.0 ± 17.6 years. Seventeen EA patients (36%) had mild pre-operative LV dysfunction on CMR and 1 (2.1%) had moderate LV dysfunction. Out of these 18 patients with LV dysfunction, only 2 were detected to have dysfunction on Echocardiogram. The global circumferential and longitudinal strain were significantly lower in the reduced LVEF group compared to those with preserved LVEF (- 14.8% vs. - 17%, p = 0.02 and - 11.9% vs. - 15.0%; p = 0.05; respectively) on CMR. A single EA patient met criteria for LVNC with a maximal NC/C ratio > 2.3. There was no statistically significant difference in NC/C ratio in the EA population (1.4 ± 0.6) vs. controls (1.1 ± 0.2), p = 0.17. There was an inverse correlation of LV ejection fraction with right ventricular end-diastolic volume and displacement index. All patients underwent the Da Silva Cone procedure at our center. Patients with preoperative LV dysfunction had longer duration of epinephrine use in the immediate postoperative period (33.7 ± 21.4 vs 10.2 ± 25.6 h, p = 0.02) and longer length of hospital stay (6.3 ± 3.2 vs 4.4 ± 1.2 days, p = 0.01). This is the largest study to date to evaluate preoperative LV structure and function in EA patients by CMR. In this cohort of 47 patients, preoperative LV dysfunction is fairly common and CMR has high sensitivity in detecting LV dysfunction as compared to Echo. True LV non-compaction was rare in this cohort. The presence of LV dysfunction is relevant to perioperative management and further study with larger cohorts and longer follow up are necessary.</p>","PeriodicalId":19814,"journal":{"name":"Pediatric Cardiology","volume":" ","pages":"1676-1683"},"PeriodicalIF":1.4,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141734829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pediatric CardiologyPub Date : 2025-08-01Epub Date: 2025-02-19DOI: 10.1007/s00246-025-03806-8
Ahmad Furqan Anjum, Muhammad Burhan Anjum
{"title":"Letter to the Editor: Evaluation of Cardiac Function in Children Undergoing Liver Transplantation.","authors":"Ahmad Furqan Anjum, Muhammad Burhan Anjum","doi":"10.1007/s00246-025-03806-8","DOIUrl":"10.1007/s00246-025-03806-8","url":null,"abstract":"<p><p>The recently published article, \"Evaluation of Cardiac Function in Children Undergoing Liver Transplantation\" by Bansal et al. presents a significant contribution to the understanding of pediatric cirrhotic cardiomyopathy and its evaluation using advanced techniques like Speckle Tracking Echocardiography (STE). This letter commends the authors for their efforts to correlate pre-transplant echocardiographic parameters with post-operative outcomes, which holds promise for advancing pediatric hepatology and cardiology. However, this study also raises several concerns regarding methodology and interpretation. Key limitations include potential selection bias from single-center recruitment and exclusion criteria, reliance solely on STE without incorporating advanced imaging modalities such as 3D echocardiography or cardiac MRI, and lack of consideration for socioeconomic and geographic factors that influence outcomes. Additionally, the study's cross-sectional design and limited adjustment for confounding variables, such as nutritional status and infections, restrict its ability to provide dynamic and comprehensive insights. Addressing these limitations through future research-encompassing diverse populations, advanced imaging, longitudinal data, and robust control of variables-will enhance the reliability and applicability of findings in this critical domain.</p>","PeriodicalId":19814,"journal":{"name":"Pediatric Cardiology","volume":" ","pages":"1763-1764"},"PeriodicalIF":1.4,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449892","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Karim Aboelsoud, Aswathy K Vaikom House, Andrew Cave, Matthew Campbell, Anas Salkini, Harold Burkhart, Arshid Mir
{"title":"A Rare Case of Posterior Malalignment VSD with Interrupted Right Arch and Isolated Left Common Carotid Artery.","authors":"Karim Aboelsoud, Aswathy K Vaikom House, Andrew Cave, Matthew Campbell, Anas Salkini, Harold Burkhart, Arshid Mir","doi":"10.1007/s00246-025-03976-5","DOIUrl":"https://doi.org/10.1007/s00246-025-03976-5","url":null,"abstract":"<p><p>We present a rare and yet unreported constellation of cardiovascular anomalies in a girl with DiGeorge Syndrome (DGS) and congenital athymia due to 22q11.2 deletion and describe her clinical course leading to corrective surgery. Cardiac findings included a large posterior malalignment ventricular septal defect (VSD), a severely hypoplastic aortic valve, and a proximal ascending aorta that continued as the right common carotid artery (RCCA). The aortic arch was right-sided and interrupted. From the main pulmonary artery (MPA), a right-sided patent ductus arteriosus (right PDA) continued as a right-sided descending aorta, which gave rise to the right subclavian artery (RSCA) and an aberrant left subclavian artery (LSCA). A left-sided PDA continued as the isolated left common carotid artery (LCCA). Only 18 cases of Isolated LCCA have been previously reported, none of which were associated with an interrupted right aortic arch. In this case, palliative cardiac catheterization was followed by corrective cardiac surgery and later successful thymic transplantation.</p>","PeriodicalId":19814,"journal":{"name":"Pediatric Cardiology","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144765144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}