Pub Date : 2025-05-22DOI: 10.1016/j.ppedcard.2025.101845
Taylor J. Prechtel , Anita N. Haggstrom , John J. Parent
Introduction
Desmoplakin (DSP) genetic variants cause various cardio-cutaneous phenotypes. DSP related cardiomyopathy (DSP-CM) is a cause of arrhythmogenic cardiomyopathy (ACM). Patient presentation is highly variable, and dermatologic manifestations are often the first sign of impending cardiac dysfunction. A subset DSP-CM patients require advanced cardiac therapies (ACT) such as heart transplantation (HTx).
Case description
Patient 1 is a male neonate who presented at birth with tense bullae and erosions scattered on the body. Genetic panel disclosed two DSP variants. He was diagnosed with DSP-related skin fragility. At age 2.5 years, DSP-CM developed, leading to aborted cardiac arrest and HTx at age 4.
Patient 2 is a 15-year-old male who presented with new onset dilated cardiomyopathy and wooly hair, hypodontia, and onychodystrophy. Genetic testing revealed a DSP variant, which was diagnostic for DSP-CM with woolly hair, keratoderma, and tooth agenesis. He underwent HTx 1 month after presentation.
Discussion
DSP variants cause a distinct form of ACM. Left dominant cardiomyopathy and systolic dysfunction were the primary manifestations in our patients. Pediatric DSP-CM cases are sparse in the literature. We demonstrate that patients with DSP-CM can successfully undergo HTx with special attention to treatment of their dermatologic disease.
{"title":"Desmoplakin related cardiomyopathy with contrasting desmoplakin dermatologic changes: A case series and review of the literature","authors":"Taylor J. Prechtel , Anita N. Haggstrom , John J. Parent","doi":"10.1016/j.ppedcard.2025.101845","DOIUrl":"10.1016/j.ppedcard.2025.101845","url":null,"abstract":"<div><h3>Introduction</h3><div>Desmoplakin (<em>DSP</em>) genetic variants cause various cardio-cutaneous phenotypes. DSP related cardiomyopathy (DSP-CM) is a cause of arrhythmogenic cardiomyopathy (ACM). Patient presentation is highly variable, and dermatologic manifestations are often the first sign of impending cardiac dysfunction. A subset DSP-CM patients require advanced cardiac therapies (ACT) such as heart transplantation (HTx).</div></div><div><h3>Case description</h3><div>Patient 1 is a male neonate who presented at birth with tense bullae and erosions scattered on the body. Genetic panel disclosed two <em>DSP</em> variants. He was diagnosed with DSP-related skin fragility. At age 2.5 years, DSP-CM developed, leading to aborted cardiac arrest and HTx at age 4.</div><div>Patient 2 is a 15-year-old male who presented with new onset dilated cardiomyopathy and wooly hair, hypodontia, and onychodystrophy. Genetic testing revealed a <em>DSP</em> variant, which was diagnostic for DSP-CM with woolly hair, keratoderma, and tooth agenesis. He underwent HTx 1 month after presentation.</div></div><div><h3>Discussion</h3><div><em>DSP</em> variants cause a distinct form of ACM. Left dominant cardiomyopathy and systolic dysfunction were the primary manifestations in our patients. Pediatric DSP-CM cases are sparse in the literature. We demonstrate that patients with DSP-CM can successfully undergo HTx with special attention to treatment of their dermatologic disease.</div></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"78 ","pages":"Article 101845"},"PeriodicalIF":0.6,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144221287","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}
Pub Date : 2025-05-22DOI: 10.1016/j.ppedcard.2025.101846
Sarah E. Messiah , Deepali K. Ernest , Luyu Xie
{"title":"Surveillance under siege: Safeguarding youth health in an era of public health defunding","authors":"Sarah E. Messiah , Deepali K. Ernest , Luyu Xie","doi":"10.1016/j.ppedcard.2025.101846","DOIUrl":"10.1016/j.ppedcard.2025.101846","url":null,"abstract":"","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"78 ","pages":"Article 101846"},"PeriodicalIF":0.6,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144221178","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}
Pub Date : 2025-05-20DOI: 10.1016/j.ppedcard.2025.101844
Hamzeh Al-Momani , Ala'a Al-ma'aiteh , Abd alraheem Abu motawe , Waleed AlSatari , Abdallah Ghwirin , Anas Sheeb , Osama K. Musallam , Hazim Alkousheh
Jervell and Lange-Nielsen syndrome (JLNS) is a rare autosomal recessive disorder characterized by congenital bilateral sensorineural hearing loss and prolonged QTc interval, which predisposes patients to life-threatening arrhythmias. A 5-year-old girl presented with congenital hearing loss, recurrent syncopal episodes, and severe iron deficiency anemia. Electrocardiogram showed a prolonged QTc interval of 530 ms, and genetic testing identified a homozygous nonsense variant in the KCNQ1 gene (c.1480G>T; p.Glu494Ter). The patient was started on beta-blockers and high-dose iron therapy, which led to a reduction in syncopal episodes and improvement in hematological parameters. She was referred to an electrophysiology center for consideration of an Implantable cardioverter defibrillator (ICD) or possible left cardiac sympathetic denervation. This is the first documented case of JLNS with a KCNQ1 variant reported in Jordan, emphasizing the critical role of genetic testing in diagnosis and management.
{"title":"Jervell and Lange-Nielsen syndrome: A case report of a variant in the KCNQ1 gene in a Jordanian child","authors":"Hamzeh Al-Momani , Ala'a Al-ma'aiteh , Abd alraheem Abu motawe , Waleed AlSatari , Abdallah Ghwirin , Anas Sheeb , Osama K. Musallam , Hazim Alkousheh","doi":"10.1016/j.ppedcard.2025.101844","DOIUrl":"10.1016/j.ppedcard.2025.101844","url":null,"abstract":"<div><div>Jervell and Lange-Nielsen syndrome (JLNS) is a rare autosomal recessive disorder characterized by congenital bilateral sensorineural hearing loss and prolonged QTc interval, which predisposes patients to life-threatening arrhythmias. A 5-year-old girl presented with congenital hearing loss, recurrent syncopal episodes, and severe iron deficiency anemia. Electrocardiogram showed a prolonged QTc interval of 530 ms, and genetic testing identified a homozygous nonsense variant in the KCNQ1 gene (c.1480G>T; p.Glu494Ter). The patient was started on beta-blockers and high-dose iron therapy, which led to a reduction in syncopal episodes and improvement in hematological parameters. She was referred to an electrophysiology center for consideration of an Implantable cardioverter defibrillator (ICD) or possible left cardiac sympathetic denervation. This is the first documented case of JLNS with a KCNQ1 variant reported in Jordan, emphasizing the critical role of genetic testing in diagnosis and management.</div></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"78 ","pages":"Article 101844"},"PeriodicalIF":0.6,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144204064","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}
Pub Date : 2025-05-19DOI: 10.1016/j.ppedcard.2025.101843
Scott Kendall , William Wright , Gillian Rea , Jane Murray , Alison Muir , Terence Prendiville , Pascal McKeown , Frank Casey
Background
The inherited cardiac channelopathies are a diverse range of conditions caused by genetic variants that predispose carriers to arrhythmia and sudden cardiac death (SCD). Examples include Congenital Long QTc (LQTS), Brugada syndrome (BrS), and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT).
Objective
In the Northern Ireland pediatric population, served by one inherited cardiac conditions clinic (ICCC), we describe the national prevalence and incidence of the channelopathies, clinical outcomes, adverse events, medication usage, medication adherence, and genetic data obtained.
Methods
Retrospective chart review using the local pediatric cardiology database.
Results
216 children (Aged 0–18) were diagnosed with a channelopathy between 2005 and 2023 at the ICCC; 190 were diagnosed with LQTS (116 KCNQ1, 36 KCNH2, 11 SCN5A, 19 KCNE1, 3 patients with variants in two genes, 1 compound heterozygote for KCNE1 and 4 genotype negative), 22 with BrS and 4 with CPVT. Most cases were diagnosed via screening (95 %). There were five documented SCDs during this time, all patients unknown to the ICCC, who were diagnosed with channelopathies on molecular autopsy (2 CPVT, 2 BrS, 1 LQTS). One KCNH2 patient underwent implantable cardioverter defibrillator (ICD) insertion. In the LQTS cohort, the majority had a variant identified (97 %). Twenty-two variants were identified in KCNQ1 patients, fourteen in KCNH2, two in SCN5A, and seven in KCNE1. As would be expected, phenotype heterogeneity was noted between and within variants. Adherence with medication varied between 70 and 90 %.
Conclusions
In general, children with channelopathies in Northern Ireland (NI) are diagnosed via family screening, commenced on appropriate pharmacotherapy, and adverse events are rare. The genetic profile is broadly similar to that reported worldwide. Unfortunately, there remains a cohort of patients who are only identified at molecular autopsy.
{"title":"Channelopathies in children in Northern Ireland 2005–2023: A national cohort study identified primarily via cascade screening","authors":"Scott Kendall , William Wright , Gillian Rea , Jane Murray , Alison Muir , Terence Prendiville , Pascal McKeown , Frank Casey","doi":"10.1016/j.ppedcard.2025.101843","DOIUrl":"10.1016/j.ppedcard.2025.101843","url":null,"abstract":"<div><h3>Background</h3><div>The inherited cardiac channelopathies are a diverse range of conditions caused by genetic variants that predispose carriers to arrhythmia and sudden cardiac death (SCD). Examples include Congenital Long QTc (LQTS), Brugada syndrome (BrS), and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT).</div></div><div><h3>Objective</h3><div>In the Northern Ireland pediatric population, served by one inherited cardiac conditions clinic (ICCC), we describe the national prevalence and incidence of the channelopathies, clinical outcomes, adverse events, medication usage, medication adherence, and genetic data obtained.</div></div><div><h3>Methods</h3><div>Retrospective chart review using the local pediatric cardiology database.</div></div><div><h3>Results</h3><div>216 children (Aged 0–18) were diagnosed with a channelopathy between 2005 and 2023 at the ICCC; 190 were diagnosed with LQTS (116 KCNQ1, 36 KCNH2, 11 SCN5A, 19 KCNE1, 3 patients with variants in two genes, 1 compound heterozygote for KCNE1 and 4 genotype negative), 22 with BrS and 4 with CPVT. Most cases were diagnosed via screening (95 %). There were five documented SCDs during this time, all patients unknown to the ICCC, who were diagnosed with channelopathies on molecular autopsy (2 CPVT, 2 BrS, 1 LQTS). One KCNH2 patient underwent implantable cardioverter defibrillator (ICD) insertion. In the LQTS cohort, the majority had a variant identified (97 %). Twenty-two variants were identified in KCNQ1 patients, fourteen in KCNH2, two in SCN5A, and seven in KCNE1. As would be expected, phenotype heterogeneity was noted between and within variants. Adherence with medication varied between 70 and 90 %.</div></div><div><h3>Conclusions</h3><div>In general, children with channelopathies in Northern Ireland (NI) are diagnosed via family screening, commenced on appropriate pharmacotherapy, and adverse events are rare. The genetic profile is broadly similar to that reported worldwide. Unfortunately, there remains a cohort of patients who are only identified at molecular autopsy.</div></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"78 ","pages":"Article 101843"},"PeriodicalIF":0.6,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144221177","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}
Pub Date : 2025-05-14DOI: 10.1016/j.ppedcard.2025.101842
Neel Dayal , William A. Suarez , Blair Grubb
Postural orthostatic tachycardia syndrome (POTS) causes an increase in heart rate of >40 beats per minute with positional change. We describe 3 interesting cases of “treatment-resistant” pediatric POTS patients with profound symptoms managed with sotalol. Treatment led to heart rate control and symptom improvement with no signs of toxicity.
{"title":"Sotalol: A new alternative in medically-resistant pediatric POTS-a case series","authors":"Neel Dayal , William A. Suarez , Blair Grubb","doi":"10.1016/j.ppedcard.2025.101842","DOIUrl":"10.1016/j.ppedcard.2025.101842","url":null,"abstract":"<div><div>Postural orthostatic tachycardia syndrome (POTS) causes an increase in heart rate of >40 beats per minute with positional change. We describe 3 interesting cases of “treatment-resistant” pediatric POTS patients with profound symptoms managed with sotalol. Treatment led to heart rate control and symptom improvement with no signs of toxicity.</div></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"78 ","pages":"Article 101842"},"PeriodicalIF":0.6,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144196039","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}
Pub Date : 2025-05-12DOI: 10.1016/j.ppedcard.2025.101839
Michelle Rybka , Arzu Cetin , Aaron DeWitt , Heather Griffis , Maryam Naim , Jennifer Walter
Background
A growing number of pediatric patients admitted to the cardiac intensive care unit (CICU) meet the criteria of chronically critically ill (CCI), but there is little consensus on how to meet their distinct needs. A novel primary palliative care intervention, Chronic Care Rounds (CCR), was used to assess whether CCI patients with higher risk for mortality are being identified correctly.
Objectives
Exposure to primary palliative care intervention (CCR) will be associated with clinical characteristics and worse health outcomes of CCI patients in the CICU.
Methods
This retrospective cohort study evaluated patients admitted to a pediatric CICU for >14 days between 2014 and 2019. Demographics, clinical data, and whether patients received the primary palliative care intervention of interest, Chronic Care Rounds (CCR), were collected. CCR is a weekly interprofessional meeting to discuss a CCI patient, followed by a family meeting. Associations between clinical characteristics and CCR were analyzed using Chi-square/Fisher's exact and Wilcoxon rank sum tests.
Results
A total of 692 hospitalizations were identified, with 253 (37 %) receiving CCR. CCR patients were significantly more likely to have a syndrome diagnosis (42 % vs 32 %, p 0.007), extracardiac anomalies (47 % vs 39 %, p 0.042), chromosomal abnormalities (54 % v 36 %, p < 0.001), or list ‘Other’ as race compared to Caucasian (33 % v 23 %, p 0.001). The CCR group had a higher mortality rate (34 % vs 16 %, p < 0.001). The CCR group had higher rates of DNR in place compared to the non-CCR group (19 % vs 7 %, p < 0.001) as well as higher rates of sub-specialty palliative care involvement (49 % vs 23 %, p < 0.001). The two cohorts had similar rates of withdrawal of life sustaining technology (45 % vs 42 %, p 0.202).
Conclusions
This study showed that CCR successfully identified patients at higher risk for mortality and therefore greater need for communication with family.
背景：越来越多的儿科患者入住心脏重症监护病房（CICU），符合慢性危重症（CCI）的标准，但如何满足他们的独特需求却鲜有共识。一种新的初级姑息治疗干预，慢性护理查房（CCR），被用来评估是否正确识别了具有较高死亡风险的CCI患者。目的暴露于初级姑息治疗干预（CCR）将与CICU中CCI患者的临床特征和较差的健康结果相关。方法本回顾性队列研究评估了2014年至2019年在儿科CICU住院14天的患者。收集了人口统计学、临床数据以及患者是否接受了感兴趣的初级姑息治疗干预——慢性护理查房（Chronic care Rounds， CCR）。CCR是每周一次的跨专业会议，讨论CCI患者，随后是家庭会议。临床特征与CCR之间的关系采用卡方/Fisher精确检验和Wilcoxon秩和检验进行分析。结果共确定692例住院患者，其中253例（37%）接受CCR。CCR患者更容易被诊断为综合征（42% vs 32%, p 0.007）、心外异常（47% vs 39%, p 0.042）、染色体异常(54% vs 36%, p <；0.001)，或者将“其他”作为种族与高加索人相比（33% vs 23%, p 0.001）。CCR组的死亡率更高(34% vs 16%, p <；0.001)。与非CCR组相比，CCR组的DNR发生率更高(19% vs 7%, p <；0.001)以及更高的亚专科姑息治疗参与率(49% vs 23%, p <；0.001)。两组患者停用维持生命技术的比例相似（45% vs 42%, p 0.202）。本研究表明，CCR成功地识别出死亡风险较高、因此更需要与家人沟通的患者。
{"title":"Caring for chronically critically ill children in the pediatric cardiac intensive care unit: Correlations of a primary palliative care intervention with clinical outcomes","authors":"Michelle Rybka , Arzu Cetin , Aaron DeWitt , Heather Griffis , Maryam Naim , Jennifer Walter","doi":"10.1016/j.ppedcard.2025.101839","DOIUrl":"10.1016/j.ppedcard.2025.101839","url":null,"abstract":"<div><h3>Background</h3><div>A growing number of pediatric patients admitted to the cardiac intensive care unit (CICU) meet the criteria of chronically critically ill (CCI), but there is little consensus on how to meet their distinct needs. A novel primary palliative care intervention, Chronic Care Rounds (CCR), was used to assess whether CCI patients with higher risk for mortality are being identified correctly.</div></div><div><h3>Objectives</h3><div>Exposure to primary palliative care intervention (CCR) will be associated with clinical characteristics and worse health outcomes of CCI patients in the CICU.</div></div><div><h3>Methods</h3><div>This retrospective cohort study evaluated patients admitted to a pediatric CICU for >14 days between 2014 and 2019. Demographics, clinical data, and whether patients received the primary palliative care intervention of interest, Chronic Care Rounds (CCR), were collected. CCR is a weekly interprofessional meeting to discuss a CCI patient, followed by a family meeting. Associations between clinical characteristics and CCR were analyzed using Chi-square/Fisher's exact and Wilcoxon rank sum tests.</div></div><div><h3>Results</h3><div>A total of 692 hospitalizations were identified, with 253 (37 %) receiving CCR. CCR patients were significantly more likely to have a syndrome diagnosis (42 % vs 32 %, p 0.007), extracardiac anomalies (47 % vs 39 %, p 0.042), chromosomal abnormalities (54 % v 36 %, <em>p</em> < 0.001), or list ‘Other’ as race compared to Caucasian (33 % v 23 %, p 0.001). The CCR group had a higher mortality rate (34 % vs 16 %, <em>p</em> < 0.001). The CCR group had higher rates of DNR in place compared to the non-CCR group (19 % vs 7 %, <em>p</em> < 0.001) as well as higher rates of sub-specialty palliative care involvement (49 % vs 23 %, p < 0.001). The two cohorts had similar rates of withdrawal of life sustaining technology (45 % vs 42 %, p 0.202).</div></div><div><h3>Conclusions</h3><div>This study showed that CCR successfully identified patients at higher risk for mortality and therefore greater need for communication with family.</div></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"78 ","pages":"Article 101839"},"PeriodicalIF":0.6,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144116168","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}
Pub Date : 2025-05-08DOI: 10.1016/j.ppedcard.2025.101840
Wendy Wang , Savannah Her , Em Long-Mills , Dmitry Tumin
Background
Children with congenital heart diseases (CHD) experience many challenges to school performance; however, no study has examined school performance in children with acquired heart diseases (AHD).
Objective
To evaluate school performance among children with AHD and compare their outcomes to peers with CHD and peers without heart disease.
Methods
We used the 2020–2022 National Survey of Children's Health database to identify children aged 6–17 years who were enrolled in school. Caregiver-reported heart conditions present at the time of the survey were classified as congenital or acquired. Outcomes included school absenteeism, school engagement, school-reported problems, and special education placement.
Results
Based on a sample of 87,730 children meeting inclusion criteria, we estimated 2.1 % had CHD, 0.3 % had AHD, and 97.6 % did not have a heart condition. Children with AHD exhibited comparable rates of school absenteeism, school engagement, and school-reported problems as children with CHD. Compared to children with no heart disease, AHD was associated with higher odds of school absenteeism (OR: 4.55; 95 % CI: 2.49, 8.30; p < 0.001) and school-reported problems (OR: 1.98; 95 % CI: 1.17, 2.22; p = 0.011).
Conclusion
Children with AHD face similar educational challenges as those with CHD when compared to peers without current heart conditions. Tailored academic interventions may be needed to better support children with AHD.
{"title":"School performance in children with acquired heart disease","authors":"Wendy Wang , Savannah Her , Em Long-Mills , Dmitry Tumin","doi":"10.1016/j.ppedcard.2025.101840","DOIUrl":"10.1016/j.ppedcard.2025.101840","url":null,"abstract":"<div><h3>Background</h3><div>Children with congenital heart diseases (CHD) experience many challenges to school performance; however, no study has examined school performance in children with acquired heart diseases (AHD).</div></div><div><h3>Objective</h3><div>To evaluate school performance among children with AHD and compare their outcomes to peers with CHD and peers without heart disease.</div></div><div><h3>Methods</h3><div>We used the 2020–2022 National Survey of Children's Health database to identify children aged 6–17 years who were enrolled in school. Caregiver-reported heart conditions present at the time of the survey were classified as congenital or acquired. Outcomes included school absenteeism, school engagement, school-reported problems, and special education placement.</div></div><div><h3>Results</h3><div>Based on a sample of 87,730 children meeting inclusion criteria, we estimated 2.1 % had CHD, 0.3 % had AHD, and 97.6 % did not have a heart condition. Children with AHD exhibited comparable rates of school absenteeism, school engagement, and school-reported problems as children with CHD. Compared to children with no heart disease, AHD was associated with higher odds of school absenteeism (OR: 4.55; 95 % CI: 2.49, 8.30; <em>p</em> < 0.001) and school-reported problems (OR: 1.98; 95 % CI: 1.17, 2.22; <em>p</em> = 0.011).</div></div><div><h3>Conclusion</h3><div>Children with AHD face similar educational challenges as those with CHD when compared to peers without current heart conditions. Tailored academic interventions may be needed to better support children with AHD.</div></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"78 ","pages":"Article 101840"},"PeriodicalIF":0.6,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144105097","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}
Pub Date : 2025-05-08DOI: 10.1016/j.ppedcard.2025.101837
Lauren Hirth , Connor Smith , Daniel McAree , Mary Kay Olive , Jonathon Hagel
Pulmonary arterial hypertension in children can occur from many causes, but when secondary to excessive pulmonary blood flow due to congenital heart disease, timely management is essential. Excessive pulmonary blood flow can occur in ventricular septal defects (VSDs) and in patent ductus arteriosus (PDA), among other defects, and if longstanding, can lead to irreversible changes to the pulmonary vasculature and development of Eisenmenger syndrome (ES). We present the case of a pediatric patient who developed ES due to a hemodynamically significant PDA and VSD, as well as a sizable atrial septal defect, that were not evaluated for many years in the setting of both language and cultural barriers to accessing care in the Amish community. While demonstrating slight improvements in oxygen saturations with medical therapies tailored toward the family's cultural needs, her prognosis remains guarded. We review the essential need for the medical community to proactively provide care to patient populations with identifiable barriers and to appropriately intervene to prevent morbidity and mortality.
{"title":"Untreated congenital heart disease leading to Eisenmenger syndrome: Cultural Implications and barriers to care","authors":"Lauren Hirth , Connor Smith , Daniel McAree , Mary Kay Olive , Jonathon Hagel","doi":"10.1016/j.ppedcard.2025.101837","DOIUrl":"10.1016/j.ppedcard.2025.101837","url":null,"abstract":"<div><div>Pulmonary arterial hypertension in children can occur from many causes, but when secondary to excessive pulmonary blood flow due to congenital heart disease, timely management is essential. Excessive pulmonary blood flow can occur in ventricular septal defects (VSDs) and in patent ductus arteriosus (PDA), among other defects, and if longstanding, can lead to irreversible changes to the pulmonary vasculature and development of Eisenmenger syndrome (ES). We present the case of a pediatric patient who developed ES due to a hemodynamically significant PDA and VSD, as well as a sizable atrial septal defect, that were not evaluated for many years in the setting of both language and cultural barriers to accessing care in the Amish community. While demonstrating slight improvements in oxygen saturations with medical therapies tailored toward the family's cultural needs, her prognosis remains guarded. We review the essential need for the medical community to proactively provide care to patient populations with identifiable barriers and to appropriately intervene to prevent morbidity and mortality.</div></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"78 ","pages":"Article 101837"},"PeriodicalIF":0.6,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144105098","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}
Right ventricular hypoplasia with dextro-transposition of great arteries (D-TGA) is a rare association that precludes arterial switch operation in the neonatal period. Given its rarity, a standardized pathway for surgical decision-making (single vs biventricular repair) does not exist. We report a case of D-TGA-hypoplastic-RV that underwent successful staged biventricular repair.
{"title":"Staged biventricular repair for D-transposition of the great arteries with a hypoplastic right ventricle","authors":"Khaled Shams Abdelmagid , Nirbhay Parashar , Brian Reemtsen , Amna Qasim","doi":"10.1016/j.ppedcard.2025.101838","DOIUrl":"10.1016/j.ppedcard.2025.101838","url":null,"abstract":"<div><div>Right ventricular hypoplasia with dextro-transposition of great arteries (D-TGA) is a rare association that precludes arterial switch operation in the neonatal period. Given its rarity, a standardized pathway for surgical decision-making (single vs biventricular repair) does not exist. We report a case of D-TGA-hypoplastic-RV that underwent successful staged biventricular repair.</div></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"78 ","pages":"Article 101838"},"PeriodicalIF":0.6,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144070798","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}
Pub Date : 2025-05-05DOI: 10.1016/j.ppedcard.2025.101834
Alfred Asante-Korang
Background
Dilated cardiomyopathy (DCM) is the most common type of cardiomyopathy. The Pediatric Cardiomyopathy registry data show a yearly incidence of 0.57 per 100,000 children. The incidence was higher in Blacks than in Whites, a finding that has broad implications in terms of outcomes.
Aims of review
The aims of this manuscript are to 1) Review available evidence of the impact of social determinants of health (SDOH) on outcomes of pediatric DCM, 2) Discuss mitigating strategies for improving the care and outcomes of DCM in the children affected by the negative effects of SDOH, and finally 3) Discuss how we can incorporate some of these strategies in our daily pediatric practice as advocates for children with DCM who struggle with SDOH.
Key scientific concepts and methodology
We performed a comprehensive literature review to determine the scope of the problem of SDOH in pediatric patients with DCM, heart failure, and mechanical circulatory support. We reviewed potential strategies that have been recommended to help mitigate the problem.
{"title":"Social determinants and dilated cardiomyopathy in children","authors":"Alfred Asante-Korang","doi":"10.1016/j.ppedcard.2025.101834","DOIUrl":"10.1016/j.ppedcard.2025.101834","url":null,"abstract":"<div><h3>Background</h3><div>Dilated cardiomyopathy (DCM) is the most common type of cardiomyopathy. The Pediatric Cardiomyopathy registry data show a yearly incidence of 0.57 per 100,000 children. The incidence was higher in Blacks than in Whites, a finding that has broad implications in terms of outcomes.</div></div><div><h3>Aims of review</h3><div>The aims of this manuscript are to 1) Review available evidence of the impact of social determinants of health (SDOH) on outcomes of pediatric DCM, 2) Discuss mitigating strategies for improving the care and outcomes of DCM in the children affected by the negative effects of SDOH, and finally 3) Discuss how we can incorporate some of these strategies in our daily pediatric practice as advocates for children with DCM who struggle with SDOH.</div></div><div><h3>Key scientific concepts and methodology</h3><div>We performed a comprehensive literature review to determine the scope of the problem of SDOH in pediatric patients with DCM, heart failure, and mechanical circulatory support. We reviewed potential strategies that have been recommended to help mitigate the problem.</div></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"77 ","pages":"Article 101834"},"PeriodicalIF":0.6,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143916618","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}
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