Cardiol Young [JOURNAL]
Sun
200 papers
A novel genotype-phenotype association: total anomalous pulmonary venous connection in a fetus.
Sun M, Sun H, He Y
Cardiol Young · 2026 Jun · PMID 42266107 · Publisher ↗
We present the first case of variant with a prenatal clinical phenotype of total anomalous pulmonary venous connection. The genetic analysis identified a heterozygous pathogenic variant NM_001085458.2: c.2098C>T (p.R700...
We present the first case of variant with a prenatal clinical phenotype of total anomalous pulmonary venous connection. The genetic analysis identified a heterozygous pathogenic variant NM_001085458.2: c.2098C>T (p.R700*) in the gene of the fetus. This case expands the phenotypic spectrum of gene, provides a novel clinical reference for prenatal diagnosis, and suggests that the gene plays a crucial role in early cardiac development.
Assessment of improvements in exercise tolerance following pulmonary valve replacement using physical accelerometry.
Joy N, Soslow JH, Crum K … +2 more , Killian M, Sunthankar S
Cardiol Young · 2026 Jun · PMID 42253219 · Full text
BACKGROUND: Pulmonary valve replacement may be required for patients with pulmonary valve disease. Exertional symptoms related to cardiovascular disease are an indication for pulmonary valve replacement; however, quantif...
BACKGROUND: Pulmonary valve replacement may be required for patients with pulmonary valve disease. Exertional symptoms related to cardiovascular disease are an indication for pulmonary valve replacement; however, quantification of symptom improvement postoperatively is challenging, and previous studies have yielded mixed data. Accelerometry has the potential to remotely monitor changes in exercise tolerance following pulmonary valve replacement. METHODS: Individuals ( = 18) age >13 years scheduled for catheter-based or surgical pulmonary valve replacement were prospectively enrolled. Participants were instructed to wear two Link GT9X accelerometers, placed on dominant wrist and one ankle, for seven days and nights before pulmonary valve replacement and again 3-6 months after the procedure. RESULTS: The cohort's median age was 26.5 [16.0, 35.0] years old. Compliance of both wrist and ankle accelerometers had a median of 96% or greater at both timepoints suggesting adequate participation. Accelerometry showed stability between participants. Quantitative analysis using pre-and post-pulmonary valve replacement accelerometer-derived measures yielded no significant differences. There was a significant decrease in the average score for items "Shortness of Breath with Strenuous Activity," "Extent Symptoms Impact Daily Activities," and "Challenges with Activities of Daily Living." Furthermore, all 9 individuals with baseline exertional intolerance had resolution of symptom in postoperative assessment. CONCLUSION: Reliability of accelerometer-derived activity measurements supports usage of physical accelerometry as a remote outcome measure to reduce patient burden for onsite assessment. Mixed qualitative versus quantitative improvement in physical activity tolerance observed in this study aligns with previous studies on variable improvement in exercise tolerance following pulmonary valve replacement. This discrepancy suggests the need for a different quantitative mechanism to measure benefit.
Photon-counting CT angiography for anatomical assessment of patent ductus arteriosus in a child.
Sun M, Ma X, Chen Y … +1 more , Wang Z
Cardiol Young · 2026 Jun · PMID 42237818 · Publisher ↗
Patent ductus arteriosus requires accurate delineation when non-invasive anatomical definition is needed. We describe a 10-year-old girl in whom photon-counting CT angiography demonstrated a ductus connecting the descend...
Patent ductus arteriosus requires accurate delineation when non-invasive anatomical definition is needed. We describe a 10-year-old girl in whom photon-counting CT angiography demonstrated a ductus connecting the descending thoracic aorta and proximal left pulmonary artery. Multiplanar and three-dimensional images defined the diameter, length, and spatial relationships. Photon-counting CT may complement echocardiography when detailed anatomical assessment is required.
Treatment and outcomes of thromboembolism in paediatric patients with cardiac disease in a cardiac ICU: a single-centre retrospective study.
Kiskaddon AL, Meade S, Betensky M … +8 more , Fierstein J, Miles A, Stock A, Amankwah EK, Witt DM, Giglia TM, Monagle P, Goldenberg NA
Cardiol Young · 2026 Jun · PMID 42237773 · Publisher ↗
INTRODUCTION: Data on thromboembolism treatment and outcomes in children with cardiac disease are limited. We sought to characterise thromboembolism treatment and outcomes in paediatric patients with cardiac disease. MET...
INTRODUCTION: Data on thromboembolism treatment and outcomes in children with cardiac disease are limited. We sought to characterise thromboembolism treatment and outcomes in paediatric patients with cardiac disease. METHODS: A single-centre, retrospective cohort study of children, aged < 21 years, with cardiac disease admitted to a paediatric cardiac ICU from October 2020 to September 2024, diagnosed with acute symptomatic thromboembolism (radiologically confirmed first episode). We analysed demographics, thromboembolism characteristics, antithrombotic drug regimens, and outcomes (recurrent thromboembolism, clinically relevant bleeding). RESULTS: Of 865 eligible patients, 75 (8.7%) developed acute symptomatic thromboembolism: 48 (64%) venous; 16 (21.3%) arterial; 9 (12%) intracardiac; 2 (2.7%) venous+arterial. Of 50 patients with venous or venous+arterial, 33 (66%) received anticoagulation in the acute phase. Of 18 patients with arterial or arterial+venous, 12 (66.7%) received anticoagulation in the acute phase. Recurrent thromboembolism occurred in 28 (37.3%) patients, more likely among single ventricle vs. biventricular physiology [OR 3.2 (95% CI 1.1 to 9.4), = 0.04]. Clinically relevant bleeding occurred in 10 (13.3%) patients, mostly with concomitant antithrombotics (anticoagulation + antiplatelet) vs. monotherapy [6 (9.2%) vs. 4 (40.0%), = 0.02] in the subacute phase of treatment. The literature review revealed limited data on treatment strategies. CONCLUSION: There is variation in the treatment strategy for thromboembolism in children with cardiac disease, with risk for thromboembolism, recurrent thromboembolism, and bleeding. Prospective multicentre studies are needed to extend preliminary findings on treatment strategies and risk factors.
Transcatheter Harmony pulmonary valve placement in the right pulmonary artery followed by stenting of a hypoplastic left pulmonary artery.
Hashim L, Buelow MW, Foerster SR … +2 more , Gudausky TM, Aldoss O
Cardiol Young · 2026 Jun · PMID 42237761 · Publisher ↗
We report the case of a 60-year-old man with repaired Tetralogy of Fallot and long-standing severe pulmonary insufficiency, complicated by asymmetric pulmonary blood flow and anatomy unsuitable for standard right ventric...
We report the case of a 60-year-old man with repaired Tetralogy of Fallot and long-standing severe pulmonary insufficiency, complicated by asymmetric pulmonary blood flow and anatomy unsuitable for standard right ventricular outflow tract valve implantation. Cardiac imaging demonstrated a pyramidal right ventricular outflow tract that did not meet the oversizing criteria for a Harmony TPV 25, with the lack of interference with the inflow part of the device. In addition, the left pulmonary artery was severely hypoplastic with proximal stenosis. To avoid jailing the left pulmonary artery and high-risk unstable right ventricular outflow tract implant, a transcatheter Harmony valve was deployed in the right pulmonary artery while protecting the left pulmonary artery, followed by stenting of the left pulmonary artery. The goal was to ultimately eliminate the vast majority of pulmonary insufficiency and maintain antegrade flow across the left pulmonary artery. Hemodynamics demonstrated elevated right-sided pressures prior to intervention, which improved post-procedure. The patient tolerated the procedure well, with a transient postoperative diuretic requirement. At 10-month follow-up, he remained asymptomatic with improved left ventricular ejection fraction and a well-functioning Harmony valve on echocardiography. This case highlights the feasibility of branch pulmonary artery valve implantation using the Harmony valve in patients with unfavourable right ventricular outflow tract anatomy and demonstrates the value of simultaneous left pulmonary artery stenting to maintain relatively balanced pulmonary perfusion. Transcatheter branch pulmonary artery implantation may represent a viable option in carefully selected patients for whom conventional right ventricular outflow tract implantation is not possible.
Percutaneous closure of a large coronary fistula in a neonate.
Gribaudo E, Ferraro G, Annoni GA
Cardiol Young · 2026 Jun · PMID 42237754 · Publisher ↗
A large coronary artery fistula originating from the circumflex artery and draining into the right atrium was diagnosed in an asymptomatic neonate on the first day of life. Over the following days, the patient developed...
A large coronary artery fistula originating from the circumflex artery and draining into the right atrium was diagnosed in an asymptomatic neonate on the first day of life. Over the following days, the patient developed pulmonary overcirculation and electrocardiographic signs of myocardial ischaemia. A successful percutaneous closure procedure was performed via a retrograde aortic approach using an Amplatzer Piccolo Occluder 5/4.
Delayed high-grade atrioventricular block following Harmony transcatheter pulmonary valve replacement in a patient with repaired tetralogy of Fallot and systemic sarcoidosis.
Sasaki T, Kawasaki Y, Sugiyama H
Cardiol Young · 2026 Jun · PMID 42231804 · Publisher ↗
Transcatheter pulmonary valve implantation yields favourable outcomes, and clinically significant conduction disturbances are rare. A 52-year-old man with repaired tetralogy of Fallot, systemic sarcoidosis, and pre-exist...
Transcatheter pulmonary valve implantation yields favourable outcomes, and clinically significant conduction disturbances are rare. A 52-year-old man with repaired tetralogy of Fallot, systemic sarcoidosis, and pre-existing conduction disease developed atrioventricular block requiring permanent pacing 3 days after Harmony valve implantation for severe pulmonary regurgitation without peri-procedural conduction changes. Post-procedural left ventricular loading conditions may have contributed to this complication.
Delayed onset of aortic regurgitation after transcatheter closure of atrial septal defect: variable impact of the device on the aortic valve.
Matsuo Y, Nakano S, Saiki H
Cardiol Young · 2026 Jun · PMID 42231794 · Publisher ↗
Although aortic valve regurgitation develops after device closure of the atrial septal defect, its mechanism remains unclear. We observed a paediatric patient who developed significant aortic regurgitation one year after...
Although aortic valve regurgitation develops after device closure of the atrial septal defect, its mechanism remains unclear. We observed a paediatric patient who developed significant aortic regurgitation one year after the procedure. Although there was no contact between the aorta and the device immediately after deployment, they gradually came into close proximity. Multiple factors appeared to have contributed to this phenomenon, including a relatively large diameter of both the device and the aortic sinus compared to body size, and a rapid increase in the left atrial volume. Coupled with left atrial enlargement, the shrinkage of right atrial volume might also have affected the exacerbation of aortic regurgitation due to the geometrical change of the interatrial septum and the traction of the non-coronary aortic sinus in a few years after deployment. Importantly, the distance between the device and the aorta widened again, resulting in improvement of regurgitation. Aortic valve regurgitation after device placement may show a tendency to improve; therefore, careful judgement is required when considering the indication for aortic intervention.
Ozaki procedure as a reconstructive strategy in rheumatic multivalvar patients: feasibility and initial outcomes in a low-resource setting.
Manuel V, Gouveia J, Miana L … +7 more , Carima I, Barnardo A, Ortet K, Luís B, Melo L, Garcia Z, Chieva C
Cardiol Young · 2026 Jun · PMID 42227035 · Publisher ↗
INTRODUCTION: Selecting the ideal heart valve substitute for young patients with rheumatic heart disease remains challenging, especially in low- and middle-income countries. Both mechanical and biological prostheses have...
INTRODUCTION: Selecting the ideal heart valve substitute for young patients with rheumatic heart disease remains challenging, especially in low- and middle-income countries. Both mechanical and biological prostheses have limitations, particularly in multivalvular disease. MATERIALS AND METHODS: We conducted a retrospective review of 12 patients with multivalvular rheumatic disease who underwent the Ozaki procedure between January 2022 and December 2024. Clinical, surgical, and early postoperative data were analysed. RESULTS: Mean age was 25 ± 9 years; 58% were female. All had rheumatic aortic valve disease, 92% with isolated regurgitation, and 8% with mixed lesions. Concomitant mitral disease was present in all: 10 underwent bioprosthetic mitral valve replacement, and two underwent mitral valve repairs. Tricuspid repair was performed in two patients (17%). The Ozaki procedure was completed in all patients without intraoperative need for conversion to prosthetic valve replacement. No deaths were observed. Two patients (16.7%) required re-exploration for bleeding, and one (8.3%) underwent surgical revision due to a paraneocuspid leak corrected in the same surgical procedure. Another patient developed early neovalve dysfunction due to active rheumatic carditis, which resolved with medical therapy. Early postoperative echocardiography showed trivial or no aortic regurgitation in all patients. Mean hospital stay was 27 ± 10 days. CONCLUSION: The Ozaki procedure is a feasible and safe option for selected young patients with multivalvular rheumatic disease, offering advantages in resource-limited settings.
Paediatric cardiac diseases in a tertiary facility in Southwest Nigeria: a five-year retrospective audit of echocardiography studies.
Bamigboye-Taiwo OT, Okeniyi JA, Adeyefa BS … +3 more , Afolabi SA, Otetubi OA, Obrerhor OE
Cardiol Young · 2026 Jun · PMID 42227033 · Publisher ↗
BACKGROUND: Echocardiography has become a crucial diagnostic tool for assessing heart diseases in children within low- and middle-income countries, where the burden of heart diseases remains substantial. OBJECTIVES: This...
BACKGROUND: Echocardiography has become a crucial diagnostic tool for assessing heart diseases in children within low- and middle-income countries, where the burden of heart diseases remains substantial. OBJECTIVES: This study aimed to audit echocardiography (echo) reports by reviewing the trends in echocardiography, indications for echocardiography, and the frequency and pattern of paediatric heart diseases seen at the Paediatric Cardiology Unit of the Obafemi Awolowo University Teaching Hospitals Complex, Ile-Ife, over a five-year period. METHODS: A total of 1,155 echocardiography reports were reviewed using a structured proforma to extract relevant data. Statistical analyses were conducted using IBM SPSS version 25. RESULTS: Male participants constituted 52.1% of the study population. Ages ranged from 9 hours to 18 years, with a mean ± SD of 3.24 ± 4.46 years. The most frequent indication for echocardiography was fast breathing (38.27%). Approximately 31.86% of the echocardiograms were normal. CHD accounted for 63.55% of diagnoses, with 67.17% classified as acyanotic CHD and 32.83% as cyanotic CHD. Ventricular septal defect (VSD, 15.26%) and tetralogy of Fallot (TOF, 14.99%) were the most common CHDs. Acquired heart diseases were found in 4.59% of cases, with rheumatic heart disease being the most prevalent within this group (35.85%). CONCLUSION: CHDs remain the predominant paediatric heart diseases, occurring nearly 14 times more frequently than acquired heart diseases. Ventricular septal defect and tetralogy of Fallot were the most common acyanotic and cyanotic CHDs, respectively. Among the acquired heart diseases, rheumatic heart disease was the leading diagnosis.
Left pulmonary artery from the common carotid artery in DiGeorge syndrome: a case of ductal stenting as bridge to repair.
da Silva Lopes M, Curinha F, Dias J … +3 more , Amaral ME, Silva PV, Pires A
Cardiol Young · 2026 Jun · PMID 42227031 · Publisher ↗
DiGeorge syndrome is associated with a wide spectrum of cardiovascular anomalies. We present a rare and anatomically complex arch anomaly in this context. A male newborn with prenatally diagnosed DiGeorge syndrome and a...
DiGeorge syndrome is associated with a wide spectrum of cardiovascular anomalies. We present a rare and anatomically complex arch anomaly in this context. A male newborn with prenatally diagnosed DiGeorge syndrome and a right aortic arch was suspected of having a left pulmonary artery arising from the ascending aorta. Postnatal multimodal imaging revealed a discontinuous left pulmonary artery originating anomalously from the left common carotid artery via a left-sided ductus arteriosus, which later developed significant stenosis. To preserve left pulmonary artery flow and promote its growth, percutaneous ductal stenting was successfully performed on day 33 of life, as a bridge to future surgical reimplantation. This case illustrates a rare embryological variant of pulmonary artery discontinuity. It highlights the diagnostic challenge from prenatal suspicion to postnatal definitive imaging, crucial for distinguishing this entity from a truly “absent” pulmonary artery and for planning appropriate intervention. The management underscores the role of hybrid palliation as a viable option to maintain pulmonary perfusion and enable delayed, safer surgical repair.
Counting papers or counting patients? Reframing surgical excellence in low-and middle-income countries.
Talwar S, Bhende VV, Krishnakumar M
Cardiol Young · 2026 Jun · PMID 42227028 · Publisher ↗
The increasing reliance on bibliometric indicators to define academic success has reshaped surgical training and evaluation worldwide. While research productivity plays a critical role in advancing medical knowledge, its...
The increasing reliance on bibliometric indicators to define academic success has reshaped surgical training and evaluation worldwide. While research productivity plays a critical role in advancing medical knowledge, its growing dominance as a surrogate for professional excellence poses unique challenges in low-and middle-income countries. In these settings, surgeons shoulder a disproportionate burden of surgical disease, often managing high case volumes, advanced pathology, and limited resources. Despite this, academic recognition remains closely tied to publication metrics that inadequately capture operative skill, clinical judgement, and patient-centred outcomes. This editorial examines the misalignment between academic metrics and surgical competence in low-and middle-income countries, explores the influence of emerging technologies such as artificial intelligence on scholarly output, and argues for a more context-sensitive definition of surgical excellence. Reframing evaluation frameworks to balance scholarly contribution with clinical mastery is essential to preserving patient safety, training integrity, and the ethical foundations of surgical practice.
Predictors of severe coronary involvement in children with Kawasaki disease: a single-centre cohort study.
Akay N, Torunoglu Z, Aslan E … +8 more , Gul U, Kilic Konte E, Kalay Senturk NG, Yildiz M, Sahin S, Barut K, Dedeoglu R, Kasapcopur O
Cardiol Young · 2026 Jun · PMID 42219926 · Publisher ↗
BACKGROUND: Kawasaki disease is the leading cause of acquired heart disease in children. Coronary artery involvement determines long-term outcomes, yet early identification of patients at risk for severe disease remains...
BACKGROUND: Kawasaki disease is the leading cause of acquired heart disease in children. Coronary artery involvement determines long-term outcomes, yet early identification of patients at risk for severe disease remains challenging. METHODS: We conducted a retrospective, single-centre cohort study of 104 children diagnosed with Kawasaki disease between January 2009 and April 2025. Clinical, laboratory, treatment-related, and echocardiographic data were collected. Coronary artery -scores were calculated using standardized equations and classified according to the 2017 American Heart Association criteria. Severe Kawasaki disease was defined as a baseline coronary -score ≥ 5.0. Longitudinal coronary changes were analysed in severe cases. Univariable and restricted multivariable logistic regression analyses were performed to identify independent predictors. RESULTS: Ten patients (9.6%) met the criteria for severe Kawasaki disease. Severe cases were younger and experienced longer diagnostic delays and prolonged fever before intravenous immunoglobulin administration. Baseline coronary -scores were significantly higher in the severe group (median 8.95 vs. 2.35, < 0.001). Severe disease was associated with hypoalbuminaemia, anaemia, thrombocytosis, delayed inflammatory resolution, and increased treatment intensity. In multivariable analysis, delayed intravenous immunoglobulin treatment and baseline pericardial effusion independently predicted severe coronary involvement, while higher serum albumin levels were protective. Although coronary -scores declined during follow-up, persistent abnormalities were observed in 60% of severe cases. CONCLUSIONS: Severe coronary involvement in Kawasaki disease is associated with delayed treatment and increased systemic inflammation. Baseline pericardial effusion and hypoalbuminaemia identify high-risk patients. Early recognition and timely treatment may improve cardiac outcomes.
A rare case of endocarditis of the tricuspid valve in a patient with unrepaired ventricular septal defect and autoimmune hepatitis.
Komarlu R, Karamlou T, Ghobrial J
Cardiol Young · 2026 Jun · PMID 42219923 · Publisher ↗
(SL), a skin commensal, is a rare cause of native valve endocarditis and usually affects left-sided valves. Only a few cases of native tricuspid valve endocarditis have been reported in non-intravenous drug users, and no...
(SL), a skin commensal, is a rare cause of native valve endocarditis and usually affects left-sided valves. Only a few cases of native tricuspid valve endocarditis have been reported in non-intravenous drug users, and none have been associated with concomitant congenital heart disease.
Milrinone in late tetralogy of Fallot repair: physiologic rationale, clinical evidence, and perspectives from low- and middle-income countries-a state-of-the-art review.
Nyandat JL
Cardiol Young · 2026 Jun · PMID 42219921 · Publisher ↗
BACKGROUND: Milrinone is commonly used after congenital heart surgery, yet its role following late repair of tetralogy of Fallot remains poorly defined. In many low- and middle-income country settings, children present f...
BACKGROUND: Milrinone is commonly used after congenital heart surgery, yet its role following late repair of tetralogy of Fallot remains poorly defined. In many low- and middle-income country settings, children present for repair at older ages after prolonged exposure to right ventricular pressure overload and chronic cyanosis, resulting in post-operative physiology that differs fundamentally from early infant repair. Extrapolation from heterogeneous paediatric cardiac surgery populations may therefore be inappropriate. This review examines the pathophysiologic substrate of late-presenting tetralogy of Fallot and explores how milrinone's pharmacologic profile intersects with dominant post-operative vulnerabilities. PHYSIOLOGIC CONSIDERATIONS: Restrictive right ventricular physiology, combined with pulmonary vascular hyperreactivity and impaired ventriculo-arterial coupling, creates a fragile right ventricular-pulmonary arterial unit with limited reserve after repair. As a phosphodiesterase-3 inhibitor, milrinone produces coordinated effects on right ventricular lusitropy, pulmonary vasodilation, and inotropy that directly target these mechanisms, supporting selective use when diastolic dysfunction and elevated afterload predominate. CURRENT EVIDENCE: The existing evidence base is derived largely from infant cohorts and mixed CHD populations, with few data addressing older children undergoing late tetralogy of Fallot repair and none specific to low- and middle-income countries. In the absence of lesion-specific evidence, routine or prophylactic use cannot be justified. Instead, a pragmatic, physiology-guided approach is proposed. CONCLUSION: The central question is not whether milrinone is beneficial after tetralogy of Fallot repair, but in whom, when, and why. Addressing this gap will require pragmatic trials or prospective registries focused on late tetralogy of Fallot repair that integrate physiologic and clinically meaningful outcomes. Until such data emerge, selective, mechanism-based use represents a rational strategy in resource-variable settings.
Research progress on the prediction of heart rate and blood pressure in the diagnosis and prognosis of pediatric postural orthostatic tachycardia syndrome.
Wang S, Zou R, Cai H … +1 more , Wang C
Cardiol Young · 2026 Jun · PMID 42219912 · Publisher ↗
Pediatric postural orthostatic tachycardia syndrome is one of the main haemodynamic types of neurally mediated syncope and is commonly seen in school-aged children. Heart rate and blood pressure are important physiologic...
Pediatric postural orthostatic tachycardia syndrome is one of the main haemodynamic types of neurally mediated syncope and is commonly seen in school-aged children. Heart rate and blood pressure are important physiological indicators in the human cardiovascular system. They are easily accessible in clinical practice and have the advantages of being non-invasive, simple and safe. This article will review the predictive value of heart rate and blood pressure in the diagnosis and prognosis of pediatric postural orthostatic tachycardia syndrome.
Transcatheter occlusion of a left ventricular outflow tract pseudoaneurysm with Penumbra Embolisation Coils.
Hurwitz S, Shipton S, Seaman C
Cardiol Young · 2026 May · PMID 42210762 · Publisher ↗
Left ventricular outflow tract pseudoaneurysms are rare but high-risk complications after cardiac surgery, myocardial infarction, or endocarditis. We report the first successful transcatheter occlusion of a left ventricu...
Left ventricular outflow tract pseudoaneurysms are rare but high-risk complications after cardiac surgery, myocardial infarction, or endocarditis. We report the first successful transcatheter occlusion of a left ventricular outflow tract pseudoaneurysm using Penumbra bare metal detachable coils in a 12-year-old post-Ross-Konno procedure. Seven coils achieved complete occlusion without coronary compromise or complications, with no recanalisation at 12-month follow-up.
Cardiac involvement in children with inborn errors of metabolism: a single-centre cohort study.
Türk S, Kasapkara ÇS, Kibar AE … +1 more , Yakut Hİ
Cardiol Young · 2026 May · PMID 42210748 · Publisher ↗
OBJECTIVES: To determine the prevalence and types of cardiac involvement in children with inborn errors of metabolism and to assess associated clinical characteristics in a single-centre cohort. METHODS: Between 1 May 20...
OBJECTIVES: To determine the prevalence and types of cardiac involvement in children with inborn errors of metabolism and to assess associated clinical characteristics in a single-centre cohort. METHODS: Between 1 May 2021 and 1 May 2023, 306 patients aged 0-18 years with inborn errors of metabolism who underwent cardiac evaluation at the Department of Paediatric Metabolism and Nutrition, Ankara Bilkent City Hospital, were retrospectively reviewed. Cardiac assessment included electrocardiography and transthoracic echocardiography. Associations between diagnostic groups, age, and cardiac involvement were analysed. RESULTS: Cardiac involvement was identified in 105 patients (34.3%). Lysosomal storage diseases were the most frequent diagnosis (27.1%), with cardiac involvement in 61.4% and valvular disease in 56.6% of these patients. Valve pathologies were present in 25.2% of all patients, of which 6.5% were haemodynamically significant regurgitations. Cardiomyopathy was observed in 1.7%, myocardial changes in 2.6%, and aortic anomalies in 1.0%. Valvular involvement was more common in patients >6 years of age (34.3%) than in younger age groups ( < 0.001). No significant difference was found between age groups regarding overall cardiac involvement. CONCLUSIONS: Cardiac involvement is common in children with inborn errors of metabolism and may occur at any age. Lysosomal storage diseases show the highest risk, particularly for valvular disease in patients older than 6 years, likely due to progressive substrate accumulation. Routine cardiological evaluation and multidisciplinary follow-up are essential to optimise prognosis in this population.
Natural history and management of restrictive perimembranous ventricular septal defects in children: insights from a 30-year experience.
Karagözlü S, Ramoğlu MG, Alimoğlu B … +3 more , Uçar T, Atalay S, Tutar E
Cardiol Young · 2026 May · PMID 42210745 · Publisher ↗
INTRODUCTION: Perimembranous ventricular septal defects represent the most common form of ventricular septal defects. Although restrictive perimembranous ventricular septal defects (rpVSDs) are generally associated with...
INTRODUCTION: Perimembranous ventricular septal defects represent the most common form of ventricular septal defects. Although restrictive perimembranous ventricular septal defects (rpVSDs) are generally associated with favourable outcomes, their clinical management remains controversial due to the lack of consensus on closure indications and the variable natural history. This study aims to evaluate the long-term clinical course, treatment needs, and outcomes of children diagnosed with perimembranous ventricular septal defect and restrictive perimembranous ventricular septal defects over a 30-year period. METHODS: A retrospective review was conducted on 448 paediatric patients diagnosed with isolated perimembranous ventricular septal defect at a single tertiary centre between 1991 and 2021. Echocardiographic data, clinical presentations, and treatment modalities were assessed. Patients were categorised based on ventricular septal defect size and hemodynamic features, focusing on the spontaneous closure rate, necessity for medicinal treatment, and surgical or interventional procedures. RESULTS: Among the 448 paediatric patients, 20.1% experienced spontaneous closure, while 31.3% required surgical intervention. Medical therapy was administered in 36.6% of the cohort, primarily in symptomatic or hemodynamically significant cases. Among patients with restrictive perimembranous ventricular septal defects, who constituted 82.1% of the cohort, 23.3% experienced spontaneous closure, 22% underwent surgical or transcatheter intervention. Among patients with restrictive perimembranous ventricular septal defects and initial left ventricular end-diastolic diameter -scores >+2, 91.1% demonstrated regression of left ventricular dilatation without the need for intervention. CONCLUSION: The majority of perimembranous ventricular septal defects, particularly restrictive types, follow a benign course with favourable remodelling and spontaneous resolution in many cases. Surgical or transcatheter intervention should be reserved for patients with significant hemodynamic compromise or valve involvement. Individualised, risk-based management strategies remain essential to optimise outcomes.
Unmasking the unexpected: a rare case of rheumatic heart disease.
Wilkinson PJ, Nguyen A, Robinson JA
Cardiol Young · 2026 May · PMID 42209144 · Publisher ↗
BACKGROUND: Rheumatic heart disease is a systemic immune condition that develops from acute rheumatic fever. Rheumatic heart disease remains prevalent throughout the world, and this case highlights an unusual presentatio...
BACKGROUND: Rheumatic heart disease is a systemic immune condition that develops from acute rheumatic fever. Rheumatic heart disease remains prevalent throughout the world, and this case highlights an unusual presentation of the disease. CASE SUMMARY: An otherwise healthy 7-year-old Caucasian girl from a suburban Midwest United States community presents with several weeks of headaches, nausea, and vomiting. After an unremarkable initial evaluation, a systolic murmur was noted during a general paediatrics clinic visit. An echocardiogram revealed severe mitral regurgitation, and further findings suggested a diagnosis of rheumatic heart disease. DISCUSSION: Rheumatic heart disease results from long-term damage to cardiac valves from an autoimmune reaction to Group A streptococcal pharyngitis. While various social determinants of health can contribute to the development of rheumatic heart disease, this case emphasises the importance of considering rheumatic heart disease in children without typical risk factors.
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