PROGRESS IN PEDIATRIC CARDIOLOGY最新文献

{"title":"Transcatheter embolization of aortopulmonary collaterals using the Trufill® n-Butylcyanoacrylate (n-BCA) liquid embolic system; A single-center experience","authors":"Joseph Casadonte,&nbsp;Jose Andres Morales Hernandez,&nbsp;Danyal Khan","doi":"10.1016/j.ppedcard.2025.101855","DOIUrl":"10.1016/j.ppedcard.2025.101855","url":null,"abstract":"<div><h3>Background</h3><div>Aortopulmonary collaterals (APCs) are commonly found in patients with cyanotic heart disease. These APCs compete with normal pulmonary blood flow in patients who have undergone Glenn or Fontan surgery. APCs are also seen in patients with cystic fibrosis (CF), where they are known to cause hemoptysis. Transcatheter occlusion of APCs has previously been described using coils, vascular plugs, and polyvinyl alcohol (PVA) particles. We present a series of patients in which the APCs were embolized using Trufill n-BCA liquid.</div></div><div><h3>Objectives</h3><div>This study aims to evaluate the safety and effectiveness of Trufill® N-Butylcyanoacrylate (n-BCA) for transcatheter embolization of aortopulmonary collateral vessels in patients with congenital heart disease and cystic fibrosis, particularly in cases where traditional embolization methods are limited or in patients with significant hemoptysis.</div></div><div><h3>Methods</h3><div>From 2009 to 2012, a total of 18 catheterization procedures were performed (in 15 patients), in which APCs were embolized using n-BCA. The mean age was 8.5 years (range: 4 months to 21 years), with a mean weight of 29 kg (range: 7–72 kg). Three patients had cystic fibrosis (CF) and presented with hemoptysis. The remaining patients had cyanotic congenital heart disease and had undergone Bidirectional Glenn or Fontan procedures. One of the congenital heart disease patients had two catheterization procedures (2.5 years apart) for hemoptysis.</div></div><div><h3>Results</h3><div>n-BCA embolization of APCs was technically successful in all patients. The three patients with cystic fibrosis who presented with hemoptysis had symptomatic improvement and have not needed repeat catheterization. One patient with cyanotic congenital heart disease and hemoptysis had acute improvement; however, 2.5 years later, she had recurrent hemoptysis and required additional APCs to be embolized. A complication attributable to n-BCA use also occurred in this patient. Following occlusion of an APC arising from the left lateral thoracic artery, she developed erythema of the overlying skin, followed a few days later by the formation of a small ulcer (presumably due to ischemia of the soft tissue/skin). The ulcer resolved without any specific treatment.</div><div>The only other complication occurred when n-BCA unintentionally embolized to the ulnar artery during APC embolization, causing partial occlusion in a patient with a previously occluded radial artery. Vascular surgery successfully removed the material, and the patient had no lasting effects. There were no other major n-BCA-related complications such as cerebrovascular accident, pulmonary embolism, or catheter adhesion.</div></div><div><h3>Conclusion</h3><div>n-BCA is a liquid embolic agent that is FDA-approved for the embolization of cerebral arteriovenous malformations. PVA particles, previously used for cerebral AVMs, have a high recanalization rate and have ","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"78 ","pages":"Article 101855"},"PeriodicalIF":0.6,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655446","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}

{"title":"Outcomes of balloon angioplasty in infants with simple or complex recurrent coarctation of the aorta","authors":"Anders C. Jenson ,&nbsp;Nathaniel W. Taggart","doi":"10.1016/j.ppedcard.2025.101852","DOIUrl":"10.1016/j.ppedcard.2025.101852","url":null,"abstract":"<div><h3>Background</h3><div>Recurrence of coarctation of the aorta (CoA) is a relatively common complication following surgical correction in neonates. Balloon angioplasty is the favored treatment for recurrent CoA in infancy and early childhood, but persistent or recurrent obstruction remains a challenging complication.</div></div><div><h3>Objectives</h3><div>This retrospective cohort study aims to assess outcomes of balloon angioplasty for infants with recurrent CoA based on the complexity of cardiac defects at the time of surgical intervention.</div></div><div><h3>Methods</h3><div>Data were analyzed from patients at a single tertiary care center who underwent balloon angioplasty for recurrent CoA within their first year of life between 2002 and 2021.</div></div><div><h3>Results</h3><div>A total of 41 patients were included and separated into simple (<em>n</em> = 26) or complex (<em>n</em> = 15) cohorts based on the coexisting cardiac defects present. These cohorts were similar in age, weight, sex, and time since initial surgical repair. The complex cohort had a significantly higher rate of subsequent coarctation re-intervention within a 2-year follow-up period (73 % vs. 31 %, <em>p</em> = 0.003, RR = 2.4; 95 % CI = 1.2–4.6, <em>p</em> = 0.003).</div></div><div><h3>Conclusion</h3><div>Our findings suggest that recurrent CoA in the presence of additional complex congenital heart disease may not be as amenable to balloon angioplasty in infants and should be considered when counseling patient families.</div></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"78 ","pages":"Article 101852"},"PeriodicalIF":0.6,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655384","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}

{"title":"Transcatheter ablation of incessant ectopic atrial tachycardia in a patient with intracardiac rhabdomyomas","authors":"Andrés David Aranzazu-Ceballos ,&nbsp;Juan Fernando Agudelo Uribe ,&nbsp;Juan David Ramírez Barrera ,&nbsp;Cesar Orlando Breton Pinto ,&nbsp;Rafael Correa Velásquez","doi":"10.1016/j.ppedcard.2025.101849","DOIUrl":"10.1016/j.ppedcard.2025.101849","url":null,"abstract":"<div><div>We report the case of an adolescent with incessant ectopic atrial tachycardia (EAT) originating from a rhabdomyoma located on the posterior wall of the right atrium, complicated by tachycardiomyopathy. The patient underwent a combined endocardial and epicardial ablation procedure in the electrophysiology laboratory. The intervention resulted in both short- and medium-term success, with resolution of ventricular dysfunction and elimination of the arrhythmia confirmed at the 3-month follow-up.</div></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"78 ","pages":"Article 101849"},"PeriodicalIF":0.6,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144523449","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}

{"title":"Assessment of acute kidney injury using estimated glomerular filtration rate and blood urea nitrogen in pediatric patients undergoing cardiac surgery: Experience from single institution in Afghanistan","authors":"Atefa Ahmadi","doi":"10.1016/j.ppedcard.2025.101850","DOIUrl":"10.1016/j.ppedcard.2025.101850","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Background&lt;/h3&gt;&lt;div&gt;Acute kidney injury (AKI) is a significant complication in pediatric cardiac surgery, especially among congenital heart disease (CHD) patients. Its incidence is rising globally due to increased cardiac procedures. Children with cardiac surgery-associated AKI (CSA-AKI) face worse postoperative outcomes, including prolonged mechanical ventilation, higher morbidity, mortality, and healthcare costs. Mechanisms of AKI are multifactorial, involving prolonged cardiopulmonary bypass (CPB), hypoperfusion, and inflammatory responses such as systemic inflammatory response syndrome (SIRS) and compensatory anti-inflammatory response syndrome (CARS). Hemolysis during CPB releases free hemoglobin, causing endothelial dysfunction, while reactive oxygen species (ROS) exacerbate kidney injury.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Objectives&lt;/h3&gt;&lt;div&gt;This study aimed to assess the incidence of AKI in pediatric patients undergoing cardiac surgery, utilizing estimated glomerular filtration rate (eGFR) and blood urea nitrogen (BUN) levels while considering factors like age, gender, surgery type, complexity, and CPB duration to enhance understanding of postoperative renal outcomes.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Methods&lt;/h3&gt;&lt;div&gt;A retrospective cross-sectional study was conducted at the French Medical Institute for Mother and Children (FMIC) in Kabul, analyzing data from 383 pediatric patients (ages 0–18) who underwent open-heart surgery between January 1, 2022, and September 30, 2024. Patients with pre-existing renal dysfunction or incomplete data were excluded. AKI was defined and staged using the Kidney Disease: Improving Global Outcomes (KDIGO) criteria. Logistic regression analyses identified AKI predictors, reporting odds ratios (OR), and &lt;em&gt;p&lt;/em&gt;-values.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;Among 383 pediatric patients (median age 5 years; 57 % male), renal function declined significantly post-surgery, with median GFR decreasing from 123.9 to 89.9 mL/min/1.73 m&lt;sup&gt;2&lt;/sup&gt; (30% reduction; &lt;em&gt;p&lt;/em&gt; &lt; 0.001). AKI occurred in 33 % (&lt;em&gt;n&lt;/em&gt; = 128), classified as Stage 1 (13 %), Stage 2 (16 %), and Stage 3 (4 %) per KDIGO criteria. Significant predictors of AKI included higher preoperative creatinine (aOR = 32.97, &lt;em&gt;p&lt;/em&gt; = 0.02), elevated postoperative BUN (aOR = 1.11, &lt;em&gt;p&lt;/em&gt; = 0.010), longer bypass duration (aOR = 1.02 per minute, &lt;em&gt;p&lt;/em&gt; = 0.014), higher baseline GFR (aOR = 1.012, &lt;em&gt;p&lt;/em&gt; = 0.009), and younger age (aOR = 0.26, &lt;em&gt;p&lt;/em&gt; = 0.03). Higher postoperative GFR was protective (aOR = 0.97, &lt;em&gt;p&lt;/em&gt; &lt; 0.001). The model demonstrated moderate explanatory power (Nagelkerke R&lt;sup&gt;2&lt;/sup&gt; = 0.44) and showed good discrimination (AUC = 0.81; 95 % CI: 0.76–0.86; p &lt; 0.001).&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Conclusion&lt;/h3&gt;&lt;div&gt;AKI occurred in 33 % of pediatric cardiac surgery patients, with key risk factors including younger age, higher preoperative creatinine, elevated postoperative BUN, longer bypass time, and higher baseline GFR. Postoperative","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"78 ","pages":"Article 101850"},"PeriodicalIF":0.6,"publicationDate":"2025-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144321135","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}

{"title":"A rare case report of an infant with Prader-Willi syndrome presenting with dilated cardiomyopathy and recurrent congestive heart failure","authors":"Naimisha Yenduri ,&nbsp;Navaneetha Sasikumar ,&nbsp;Hisham Ahamed ,&nbsp;Dhanya Yesodharan ,&nbsp;Raman Krishna Kumar","doi":"10.1016/j.ppedcard.2025.101848","DOIUrl":"10.1016/j.ppedcard.2025.101848","url":null,"abstract":"<div><div>A seven-month-old baby girl presented with recurrent heart failure hospitalizations from dilated cardiomyopathy. The baby had multiple associated co-morbidities, including hypothyroidism, global developmental delay, failure to thrive, recurrent lower respiratory tract infections, and feeding difficulties. She was diagnosed with Prader-Willi syndrome (PWS) due to monosomy 15q11.2q13.1. While dilated cardiomyopathy (DCM) has been reported in adults with PWS, to our knowledge, its occurrence in the pediatric population, particularly during infancy, has not been documented. This case suggests that DCM could be associated with PWS in children. It highlights how DCM complicates the management of PWS and illustrates the interplay of genetic, cardiac, developmental, and metabolic factors, emphasizing the need for a multidisciplinary approach.</div></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"78 ","pages":"Article 101848"},"PeriodicalIF":0.6,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144321136","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}

{"title":"In-hospital mortality and associated factors among pediatric patients with heart failure at selected public hospitals of eastern Ethiopia","authors":"Ahmedyasin Abdi ,&nbsp;Tadesse Bekele ,&nbsp;Mesay Dechasa ,&nbsp;Kirubel Minsamo Minshore","doi":"10.1016/j.ppedcard.2025.101847","DOIUrl":"10.1016/j.ppedcard.2025.101847","url":null,"abstract":"<div><h3>Background</h3><div>The treatment of pediatric heart failure continues to have a poor outcome, such as significant mortality, morbidity, and hospitalization. Irrespective of the poor outcomes of children admitted with heart failure (HF) all over the globe, there is limited data on the status of children with HF in low-income settings, including Ethiopia.</div></div><div><h3>Objectives</h3><div>This study aimed to assess the magnitude of and factors associated with in-hospital mortality among admitted children at selected public hospitals in Eastern Ethiopia.</div></div><div><h3>Methods</h3><div>A retrospective cohort study design was conducted. A simple random sampling method was used to select medical records of 671 pediatric patients with HF admitted between June 01, 2017, and May 31, 2022, and data was collected from the medical records. Descriptive statistics were used to analyze information about patient's characteristics. A survival analysis by Cox regression was used to analyze the collected data. Hazard ratios with 95 % confidence interval and <em>p</em>-values were used to examine factors associated with in-hospital mortality of children with heart failure. A p-value of &lt;0.05 was used to declare a significant association.</div></div><div><h3>Results</h3><div>The study analyzed 671 pediatric patients hospitalized with HF. Regarding the in-hospital outcomes, 386 (57.5 %) patients were discharged with improvement, 132 (19.7 %) patients were self-discharged or left against medical advice, 49 (7.3 %) patients were referred, and 104 (15.5 %) patients died while they were at the hospital. In a multivariate Cox regression analysis, participants with female gender (adjusted hazard ratio: 1.665, 95 % confidence interval: 1.111–2.494, <em>p</em> = 0.013), under-nutrition (adjusted hazard ratio: 1.517, 95 % confidence interval: 1.018–2.259, <em>p</em> = 0.04), age between one year to &lt;5 years (adjusted hazard ratio: 1.834, 95 % confidence interval: 1.177–2.858, <em>p</em> = 0.007), and congenital heart disease (adjusted hazard ratio: 0.357, 95 % confidence interval: 0.151–0.654, <em>p</em> = 0.002) were significantly associated with in-hospital mortality of children with HF.</div></div><div><h3>Conclusion</h3><div>The overall in-hospital mortality rate was 15.5 %. Malnutrition, age group of one year to &lt;5 years, and female gender were associated with pediatric mortality. These findings highlight the need for screening for malnutrition at each follow-up for under-five children.</div></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"78 ","pages":"Article 101847"},"PeriodicalIF":0.6,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144330753","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}

{"title":"Desmoplakin related cardiomyopathy with contrasting desmoplakin dermatologic changes: A case series and review of the literature","authors":"Taylor J. Prechtel ,&nbsp;Anita N. Haggstrom ,&nbsp;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}

{"title":"Surveillance under siege: Safeguarding youth health in an era of public health defunding","authors":"Sarah E. Messiah ,&nbsp;Deepali K. Ernest ,&nbsp;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}

{"title":"Jervell and Lange-Nielsen syndrome: A case report of a variant in the KCNQ1 gene in a Jordanian child","authors":"Hamzeh Al-Momani ,&nbsp;Ala'a Al-ma'aiteh ,&nbsp;Abd alraheem Abu motawe ,&nbsp;Waleed AlSatari ,&nbsp;Abdallah Ghwirin ,&nbsp;Anas Sheeb ,&nbsp;Osama K. Musallam ,&nbsp;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&gt;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}

{"title":"Channelopathies in children in Northern Ireland 2005–2023: A national cohort study identified primarily via cascade screening","authors":"Scott Kendall ,&nbsp;William Wright ,&nbsp;Gillian Rea ,&nbsp;Jane Murray ,&nbsp;Alison Muir ,&nbsp;Terence Prendiville ,&nbsp;Pascal McKeown ,&nbsp;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}