Cardiology in the Young最新文献

{"title":"Rapid haemodynamic improvement with trametinib in Noonan syndrome-associated hypertrophic obstructive cardiomyopathy: a report of two cases with distinct genotypes.","authors":"Meena Al Hadithi, Omar Elsedawy, Mohamed Kasem, Mahmoud Alsoufi, Hesham Obeidat, Yakup Ergul","doi":"10.1017/S1047951126123889","DOIUrl":"https://doi.org/10.1017/S1047951126123889","url":null,"abstract":"<p><strong>Background: </strong>Noonan syndrome is an autosomal dominant RASopathy caused by germline gain-of-function variants in the renin-angiotensin system/mitogen-activated protein kinase signalling pathway. Hypertrophic obstructive cardiomyopathy is a serious and potentially fatal manifestation of Noonan syndrome, most characteristically associated with RAF1 and RIT1 variants. Trametinib, a selective MEK1/2 inhibitor, has demonstrated efficacy in Noonan syndrome-associated hypertrophic obstructive cardiomyopathy across several genotypes; however, real-world data pairing distinct genotypes with clinical response-particularly for PTPN11- and RAF1-related disease in older children with prior surgical intervention-remain limited.</p><p><strong>Cases: </strong>We report two 10-year-old males with genetically confirmed Noonan syndrome and severe hypertrophic obstructive cardiomyopathy refractory to conventional pharmacological management, both with prior surgical right ventricular outflow tract intervention. Case 1 carries a PTPN11 c.1528C>G; p. Gln510Glu variant; Case 2 carries a RAF1 c.770C>T; p. Ser257Leu variant, a well-characterised pathogenic variant strongly associated with Noonan syndrome-related hypertrophic obstructive cardiomyopathy. Trametinib was initiated as off-label therapy in both cases, producing rapid, significant reduction of left ventricular outflow tract gradients. Trametinib was well tolerated in Case 1, while Case 2 experienced mild cutaneous pruritus that resolved with antihistamine therapy without requiring dose modification. With continued therapy over subsequent months, both patients demonstrated further incremental haemodynamic improvement together with structural regression of ventricular wall thickness.</p><p><strong>Conclusion: </strong>These cases provide complementary evidence supporting the efficacy and tolerability of trametinib, including its rapid response time, across two distinct Noonan syndrome genotypes in older paediatric patients with established, surgically treated hypertrophic obstructive cardiomyopathy. Our findings support mitogen-activated protein kinase kinase inhibition as a genotype-agnostic targeted therapeutic strategy in Noonan syndrome-associated hypertrophic obstructive cardiomyopathy and reinforce the need for prospective trials to standardise protocols and define long-term outcomes.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1-9"},"PeriodicalIF":0.8,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104438","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}

{"title":"Intervention with a handmade closed-loop balloon stent for a pulmonary artery fistula not closed by coil.","authors":"Rukiye Gönen Özdemir, Çağlar Alp","doi":"10.1017/S1047951126123853","DOIUrl":"https://doi.org/10.1017/S1047951126123853","url":null,"abstract":"<p><strong>Background: </strong>Coronary-pulmonary artery fistulas (CPAF) are rare anomalies that may cause coronary steal and clinical symptoms. Coil embolisation is often effective, but residual flow can persist in large fistulas.</p><p><strong>Case: </strong>A 70-year-old male with coronary artery disease underwent coil embolisation for a right coronary-pulmonary artery fistula. Residual flow persisted, leading to exertional dyspnoea. Coronary angiography confirmed incomplete closure. Since a vascular plug was unavailable, a closed-loop balloon-stent technique was performed with guideliner support, achieving complete occlusion.</p><p><strong>Results: </strong>The fistula was successfully closed, eliminating the pathological connection. At 6-month follow-up, dyspnoea had resolved.</p><p><strong>Conclusions: </strong>This case highlights the limitations of coil embolisation in large CPAF and demonstrates the safety and efficacy of a guideliner-assisted closed-loop balloon-stent technique as a practical alternative when plugs are unavailable.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1-4"},"PeriodicalIF":0.8,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104473","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}

{"title":"The grey zone before pulmonary valve replacement in repaired tetralogy of Fallot: a paediatric perspective on the 2024 American Heart Association scientific statement.","authors":"Nujin Ulug Murt, Tristan Ramcharan","doi":"10.1017/S1047951126124202","DOIUrl":"https://doi.org/10.1017/S1047951126124202","url":null,"abstract":"<p><p>The 2024 American Heart Association scientific statement broadened risk assessment in repaired tetralogy of Fallot beyond right ventricular volume, bringing together ejection fraction, exercise capacity, pressure load, and a validated risk score. One group of patients remains difficult: those whose right ventricular volumes are borderline and who meet no threshold for intervention. We describe this borderline range as a grey zone, with an indexed end-diastolic volume of approximately 140 to 160 mL/m² and an indexed end-systolic volume of approximately 70 to 80 mL/m². Within this range, no single value decides the timing of pulmonary valve replacement, and the direction of change across serial studies carries more information than any single borderline result. We outline a structured approach that places volume alongside markers of ventricular function, exercise capacity, the rhythm substrate, tissue characterisation, and loading conditions, in order to estimate the risk of continued surveillance and to set the interval to the next review. We also note that the imaging methods underlying this framework are unevenly available and unevenly taught across centres, drawing on a recent survey from the Association for European Paediatric and Congenital Cardiology, and that a framework intended for diverse centres is most useful when it separates assessments available to every unit from those available only to some. We present this framework as a way to structure reasoning at the bedside and to seed prospective multicentre study of borderline patients, rather than as a new set of cut-offs.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1-4"},"PeriodicalIF":0.8,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104460","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}

{"title":"<i>Trichosporon</i> fungal mediastinitis after cardiac surgery in a paediatric patient.","authors":"Shota Masaki, Akira Watanabe, Hiroomi Murayama","doi":"10.1017/S1047951126124378","DOIUrl":"https://doi.org/10.1017/S1047951126124378","url":null,"abstract":"<p><p>We report a case of <i>Trichosporon austroamericanum</i> mediastinitis in a 4-month-old male infant after repair of total anomalous pulmonary venous return. The causative organism was identified by genetic sequence analysis. Despite standard debridement and negative-pressure wound therapy, positive cultures persisted. Daily irrigation plus voriconazole therapy was required to achieve culture negativity. Chest closure was performed using omental filling, and the infant recovered without recurrence, underscoring the unique challenges of fungal mediastinitis.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1-3"},"PeriodicalIF":0.8,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104477","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}

{"title":"In-hospital direct breastfeeding is linked to improved oral feeding and human milk intake at discharge and beyond in neonates with CHD.","authors":"Lara Nicolas, Siena Vadakal, Jordan Kaidyn, Vivian Valcarce, Leslie A Parker, Desiree Machado, Alissandre Eugenie, Hanzhi Gao, Diomel de la Cruz, Nicole T Cacho","doi":"10.1017/S1047951126124287","DOIUrl":"https://doi.org/10.1017/S1047951126124287","url":null,"abstract":"<p><strong>Background: </strong>Feeding neonates with CHD is clinically and emotionally challenging. Although human milk improves outcomes-including reduced necrotising enterocolitis, sepsis, and neurodevelopmental delays-its use remains suboptimal. Prior studies have focused on clinical endpoints, with limited attention to modifiable maternal or prenatal influences on feeding.</p><p><strong>Objective: </strong>To evaluate how maternal expectations, prenatal counselling, and early lactation behaviours affect feeding outcomes in infants with prenatally diagnosed CHD.</p><p><strong>Methods: </strong>We conducted a prospective cohort study of 49 mother-infant dyads with prenatally diagnosed CHD in a tertiary neonatal ICU and paediatric cardiac ICU. Mothers completed structured surveys during hospitalisation. Feeding outcomes were assessed through chart review over six months post-discharge. Primary outcomes included human milk volume at day of life 14, feeding type at discharge, and direct breastfeeding. Multivariable logistic regression and CHD risk stratification were used for analysis.</p><p><strong>Results: </strong>Direct breastfeeding during hospitalisation predicted oral feeding at discharge (77% vs. 28%, <i>p</i> = 0.0006) and ongoing human milk use. Early milk exposure (<72 hours) increased likelihood of human milk use at discharge (<i>p</i> = 0.0158). Strong maternal intent and prior breastfeeding experience were linked to sustained lactation. Prenatal counselling (reported by 68%) was not associated with outcomes. Higher Society of Thoracic Surgeons-European Association for Cardio-Thoracic Surgery scores correlated with delayed achievement of 500 mL/day by day of life 14 (<i>p</i> = 0.0405).</p><p><strong>Conclusions: </strong>Direct breastfeeding, early milk exposure, and maternal intent are key modifiable drivers of feeding success in neonates with CHD. Standard prenatal counselling alone is insufficient. Targeted, risk-informed lactation support is needed to optimise outcomes.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1-6"},"PeriodicalIF":0.8,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149079652","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}

{"title":"Area deprivation index as a predictor of neurodevelopmental follow-up in children with CHD.","authors":"Julia C Selwyn, Jennifer Shores, Md Abu Yusuf M Ansari","doi":"10.1017/S1047951126124330","DOIUrl":"https://doi.org/10.1017/S1047951126124330","url":null,"abstract":"<p><strong>Background: </strong>Neurodevelopment deficits are common among survivors of CHD and affect their future health and quality of life. Patients who have undergone cardiopulmonary bypass in infancy should have early, dedicated neurodevelopmental evaluation. There are many barriers to implementing this guidance. Our study examines the patterns of neurodevelopmental follow-up and outcomes in CHD patients in a rural, underserved, and resource-limited region.</p><p><strong>Materials and methods: </strong>We conducted a single-centre chart review of CHD patients seen from 2012 to 2024 and analysed trends in neurodevelopment follow-up, including the number of scheduled appointments, attended appointments, and missed appointments. We looked at whether area deprivation index was associated with differences in neurodevelopmental referral, attendance, and missed appointments. Area deprivation index is a composite measure of neighbourhood disadvantage based on income, education, employment, and housing quality.</p><p><strong>Results: </strong>Out of 1,060 patients in total, neurodevelopment appointments were scheduled for 270 (25%) of patients. The incidence of neurodevelopment diagnoses was similar across area deprivation index quartiles. Patients across area deprivation index quartiles had similar rates of attending at least one appointment, but children in the third and fourth quartiles had more than twofold higher odds of missing visits compared with those in the least deprived quartile. There was no significant difference in the age at which children received a neurodevelopment diagnosis.</p><p><strong>Conclusions: </strong>CHD patients from more socially disadvantaged neighbourhoods were more likely to miss neurodevelopmental appointments. Area deprivation index, which is routinely available in major health record systems, may help identify patients at higher risk of poor follow-up.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1-5"},"PeriodicalIF":0.8,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149079889","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}

{"title":"A rare combination of truncus arteriosus and tricuspid atresia in a preterm infant.","authors":"Hasan Türkmen, Hazer Ercan Bozyer, Hasan Kahveci","doi":"10.1017/S1047951126124238","DOIUrl":"https://doi.org/10.1017/S1047951126124238","url":null,"abstract":"<p><p>The coexistence of truncus arteriosus and tricuspid atresia is exceptionally rare. We report a preterm infant with truncus arteriosus, tricuspid atresia, and a hypoplastic right ventricle. Despite planned staged palliation, the infant died from complications of prematurity and sepsis. To our knowledge, this is the lowest birth weight infant reported with this combination.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1-2"},"PeriodicalIF":0.8,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149079878","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}

{"title":"Normal electrocardiography at presentation masks <i>SCN5A</i>-related long QT syndrome: the importance of Holter monitoring in children with a family history of Brugada syndrome.","authors":"Hidenori Yamamoto, Kentaro Suzuki, Naoki Ohashi","doi":"10.1017/S1047951126124263","DOIUrl":"https://doi.org/10.1017/S1047951126124263","url":null,"abstract":"<p><p>A 10-year-old girl who showed no abnormalities on resting or exercising stress electrocardiograms underwent Holter monitoring because of a family history of Brugada syndrome, which revealed marked QT prolongation during sleep. <i>SCN5A</i>-related inherited arrhythmia was suspected, and genetic testing confirmed the p.Glu1783Lys variant in <i>SCN5A</i>. Children with a family history of Brugada syndrome should undergo Holter monitoring proactively, suspecting the possibility of <i>SCN5A</i>-related inherited arrhythmia, even if 12-lead electrocardiograms show no abnormalities.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1-3"},"PeriodicalIF":0.8,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149079720","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}

{"title":"A rare conotruncal anomaly: absent pulmonary valve syndrome, interrupted aortic arch, and severe aortic stenosis.","authors":"Ghoon Hoong Cheh, Martin Ngie Liong Wong","doi":"10.1017/S1047951126124172","DOIUrl":"https://doi.org/10.1017/S1047951126124172","url":null,"abstract":"<p><p>The coexistence of absent pulmonary valve syndrome, Type B interrupted aortic arch, and severe aortic stenosis represents an exceptionally rare and complex congenital cardiac phenotype. The diagnosis was established in a newborn using multimodality imaging. Given the profound airway compression secondary to the massive pulmonary artery dilatation and the associated poor prognosis, palliative care was chosen.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1-3"},"PeriodicalIF":0.8,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149079923","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}

{"title":"Maximum heart rate prediction in children: are maximal heart rate prediction equations suitable for use in paediatric clinical practice?","authors":"Catherine Renwick, Mark Ogden, Monica Ramos, Oliver Williams, Gabrielle Norrish, Jan Till, James Ware, Juan Pablo Kaski","doi":"10.1017/S1047951126124056","DOIUrl":"https://doi.org/10.1017/S1047951126124056","url":null,"abstract":"<p><strong>Aims: </strong>Assessment of maximal heart rate is used in clinical practice to determine the degree of beta-blockade during exercise and periods of adrenergic stress. When direct measurement is not possible, indirect methods utilising heart rate prediction equations are commonly used, but their validity in children has been challenged.</p><p><strong>Methods: </strong>Retrospective data on 109 healthy children (male 63, 58%; mean age 11.00 ± 3.09) undergoing routine exercise testing were analysed. Measured maximal heart rate was compared with estimates obtained from twenty-two prediction equations.</p><p><strong>Results: </strong>All prediction equations overestimated maximal heart rate in males. In females, two equations underpredicted (Fairbarn and Heinzmann-Filho et al.), whilst the remaining equations overpredicted. The equations that predicted most accurately differed between males (Fairbarn) and females (Whyte (males). The prediction equation used commonly in clinical practice, Fox (220-age), overestimated significantly in males and females (<i>p</i> = < 0.001). A moderate positive correlation with age and maximal heart rate was seen in males only (<i>r</i> = 0.3195, <i>p</i> = 0.0107).</p><p><strong>Conclusions: </strong>This study shows that adult age regression equations do not accurately predict childhood maximal heart rate as determined by exercise testing. An inability to accurately predict maximal heart rate could have important implications for both childhood exercise prescription and the safe monitoring of pharmacological therapy that limits exertional heart rate response in children with inherited arrhythmic syndromes. In the absence of direct measurement of maximal heart rate, alternative paediatric-specific prediction methods should be developed to ensure appropriate estimation of childhood maximal heart rate.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1-6"},"PeriodicalIF":0.8,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149079661","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}