Search Results (191)

Background: Severe aortic stenosis (AS) remains the most prevalent primary valvular disease in Europe and North America, causing heart failure (HF), with pulmonary hypertension (PH) occurring in up to 75% of symptomatic patients. The coexistence of AS and atrial septal defect (ASD) is rare and may generate dual mechanisms of PH, complicating both diagnosis and management. Case summary and review: We report a 78-year-old patient with symptomatic severe AS and right heart failure, in whom an unrecognized secundum ASD with significant left-to-right shunt was identified as a major contributor to persistent HF and right ventricular (RV) dysfunction. Due to prohibitive surgical risk, a staged interventional strategy was decided: transcatheter aortic valve implantation (TAVI), followed by cardiac catheterization and ultimately by percutaneous ASD closure. Marked clinical benefit with the reduction of the RV dimensions and improved systolic function were observed at one year follow-up. A focused review of the literature was conducted to contextualize the pathophysiological mechanisms, diagnostic challenges, and therapeutic strategies in patients with coexisting AS and ASD. Conclusions: This case emphasizes the importance of comprehensive hemodynamic assessment in AS complicated by PH and HF, particularly in the presence of congenital anomalies such as ASD. Full article

Background/Objectives: Young-onset ischemic stroke shows substantial etiologic heterogeneity. However, the value and diagnostic yield of advanced cardiac and autoimmune evaluations in young adults remain uncertain. Methods: Patients aged 25–55 years admitted with acute ischemic stroke to King Fahd University Hospital in Saudi Arabia between January 2020 and December 2025 were included. Evaluation followed a multidisciplinary young-stroke pathway, incorporating neurovascular imaging, cardiac assessment, and targeted autoimmune and rheumatologic investigations. A Clinically Meaningful Diagnostic Yield (CMDY) was defined as a diagnostic finding that resulted in etiologic reclassification, management modification, or changes to secondary prevention strategy. Results: A total of 480 patients were included (median age, 40 years; 67.7% men). CMDY was observed in 200 (41.7%) patients. Among 79 patients initially classified as having embolic stroke of an undetermined source, 35 (44.3%) were assigned a determined etiologic mechanism following evaluation and follow-up. Patients with undetermined stroke etiology decreased from 16.5% after first-pass evaluation to 9.2% after diagnostic completion. Patent foramen ovale/atrial septal defect-associated stroke mechanisms were identified in 61 patients (12.7%), autoimmune/inflammatory stroke mechanisms in 26 patients (5.4%), and atrial fibrillation-related cardioembolic stroke in 18 patients (3.8%). Clinically relevant mechanisms were identified in 169 patients (35.2%) whose primary etiologic classification remained unchanged. Independent predictors of CMDY were hypertension, prior stroke or transient ischemic attack, multi-territory infarction, and cortical infarction. Conclusions: Etiologic evaluation yielded clinically meaningful findings in over two-fifths of young adults with ischemic stroke and influenced etiologic assessment, treatment, and secondary prevention. Diagnostic yield was greatest among patients with prior cerebrovascular events and cortical or multi-territory infarctions, supporting a selective, phenotype-driven approach that warrants prospective multicenter validation. Full article

Objective: Patients with D-transposition of the great arteries (TGA) often require prostaglandin E1 (PGE) even after balloon atrial septostomy (BAS). This study builds a computer simulation that analyzes whether or not elevated pulmonary vascular resistance (PVR) could explain the profound hypoxemia seen in some patients after PGE discontinuation. Methods: We developed a systems-based mathematical model of TGA incorporating systemic and pulmonary circulations, an atrial septal defect (ASD), and a patent ductus arteriosus (PDA), with bidirectional atrial mixing. The PGE-on pre-BAS state represented restrictive atrial communication, with systemic arterial saturation in the clinically expected 60–70% range. BAS was modeled by reducing ASD resistance and increasing the atrial mixing parameter; PGE withdrawal was modeled by increasing PDA resistance. A reproducible Monte Carlo cohort of 500 virtual patients was generated using independent probability distributions for heart rate, PVR, SVR, ASD resistance, PDA resistance, and atrial mixing. Prespecified sensitivity analyses varied ASD resistance reduction, PDA resistance, and pulmonary and systemic vascular responses to PGE withdrawal. Results: The PGE-on pre-BAS cohort had a median systemic arterial saturation of 64.7% (interquartile range, 59.1–68.8%), which increased to 74.7% (70.6–77.9%) after BAS. Following PGE withdrawal, saturation decreased to 70.9% (66.0–74.4%), while systemic flow increased from 1.83 to 2.04 L/min/m² and systemic oxygen delivery increased from 271.4 to 283.9 mL O₂/min/m². For the response from PGE-on post-BAS to PGE-off post-BAS, each 1-WU·m² increase in PVR was associated with a 0.56-percentage-point greater decrease in saturation, a 6.56% smaller increase in systemic flow, a 3.96% greater decrease in effective pulmonary flow, and a 7.87% smaller increase in oxygen delivery (all p < 0.01). Conclusions: In a model representing clinically restrictive pre-BAS atrial communication, PVR strongly modified the response to PGE withdrawal after BAS. Higher PVR was associated with larger decreases in saturation and effective pulmonary flow and smaller improvements in systemic flow and oxygen delivery. Saturation and oxygen delivery may move in opposite directions; therefore, assessment after PGE withdrawal should integrate systemic perfusion rather than rely on saturation alone. These findings are mechanistic and require external clinical validation. Full article

Background/Objectives: Isolated Left Ventricular Apical Hypoplasia (ILVAH) is a rare congenital anomaly characterized by a truncated, spherical left ventricle (LV) with fibro-fatty apical replacement. Historically considered a benign condition of asymptomatic adults, its hemodynamic behavior under physiological stress remains poorly characterized. We present two distinct cases and a comprehensive literature review (n = 59) to redefine the clinical spectrum of ILVAH. Methods: To contextualize our findings, a comprehensive review of the literature was performed up to February 2026. We searched the PubMed/MEDLINE database using the terms “Isolated Left Ventricular Apical Hypoplasia”, “ILVAH”, “truncated left ventricle”, and “left ventricular apical hypoplasia”. The literature search and study selection were conducted in accordance with the PRISMA guidelines. Case presentations: Case 1 describes a male infant with ILVAH and muscular ventricular septal defects who unexpectedly developed transient systolic heart failure at one month of life, requiring prompt medical therapy (ACE inhibitors and diuretics) for functional recovery. Case 2 describes a 33-year-old woman with a known diagnosis of ILVAH. Serial echocardiography during her first pregnancy revealed progressive left atrial dilation and the onset of mild post-capillary pulmonary hypertension. Immediately following an elective cesarean section at 37 weeks, she experienced acute heart failure. She was successfully managed with pre-emptive volume offloading. Conclusions: ILVAH is not a universally benign anomaly. The morphologically deficient and rigid ventricle is vulnerable to afterload shifts in infancy and rapid volume expansion in adulthood. A review of all previously reported pregnancies in ILVAH reveals a consistent pattern of severe, unrecognized postpartum pulmonary edema. Proactive, multidisciplinary management is suggested to prevent clinical decompensation. Our findings suggest that ILVAH may act as a stress-sensitive restrictive congenital left ventricle disease rather than a universally benign anatomical variant, a hypothesis that warrants further investigation. Full article

Background: Decellularized extracellular matrix (ECM) patches have emerged as a potential alternative to synthetic and autologous materials in pediatric cardiac surgery; however, clinical data on their use in septal defect repair remain limited. Methods: This single-center retrospective study evaluated the applicability and early outcomes of ECM scaffolds for pediatric septal defect repair using data from the national cardiac surgery registry. Early postoperative outcomes and perioperative variables were analyzed. Results: The study included 72 procedures performed in 68 patients (35 males and 33 females), aged 10 days to 16 years (median age: 187 days; IQR: 105–327 days). Reoperations accounted for 6% of cases. Postoperative complications occurred in 1.4% of patients, and continuous renal replacement therapy was required in 6 (8.8%) patients. Overall mortality was 2.9% (2/68 patients). No statistically significant differences were observed between atrial and ventricular septal defect groups. Conclusions: ECM patches appeared to be a safe and effective option for septal defect repair in pediatric cardiac surgery, demonstrating low complication rates and satisfactory early outcomes across different types of congenital heart defects. Full article

Background/Objectives: Despite advances in transcatheter therapy, surgery remains the gold standard treatment for sinus venosus defect (SVD). However, data on long-term outcomes following surgical repair remain scarce. This multicenter study evaluates the long-term outcomes of surgically treated SVD patients with comparison to surgically and percutaneously treated secundum atrial septal defect (ASD). Methods: Clinical, surgical, imaging and invasive data were retrospectively reviewed from eight centers in Europe. Results: A total of 209 patients were included, of whom 80 were surgically treated SVD, 57 surgically treated secundum ASD and 72 percutaneously treated secundum ASD. Operation for SVD mainly occurred in adulthood, with a median age of 28.5 years (2–68 years). During follow-up, the observed reoperation rate was higher in the SVD cohort than ASD cohorts (p = 0.033), despite shorter follow-up period in the SVD cohort. Reoperations, in the SVD cohort, occurred at a median of 28 years (1–50 years) after index surgery. The need for pacemaker implantation was similar between groups (p = 0.301). The prevalence of late atrial fibrillation did not differ between groups (p = 0.588). Surgically treated SVD tended to have a higher prevalence of atrial flutter and atrial tachycardia, with a significantly higher rate of electrophysiological studies than percutaneously treated secundum ASD (p = 0.013), similar to surgically treated secundum ASD (p = 0.405). Conclusions: Long-term follow-up of surgically treated SVD is essential to monitor for reintervention and arrhythmic complications. Full article

Background: Trisomy 21 (T21) is strongly associated with congenital heart disease, particularly atrioventricular septal defect (AVSD), ventricular septal defect (VSD), atrial septal defect (ASD) and selected conotruncal and arch anomalies. First- and second-trimester ultrasound, Doppler and fetal cardiac MRI enable increasingly early and detailed characterization of these lesions, while advances in molecular cardiogenesis have linked specific phenotypes to dosage-sensitive genes on chromosome 21. Methods: This narrative review synthesizes contemporary evidence on structural and functional cardiovascular anomalies in T21 fetuses in the first and second trimester, integrating fetal echocardiography, Doppler assessment and fetal cardiac MRI with embryologic and molecular insights, and summarizing trimester-specific detectability and pathophysiologic links to candidate genes in the Down syndrome-critical region. Approximately one quarter to one third of T21 fetuses have major congenital heart disease on high-quality prenatal echocardiography, with AVSD representing about half of all lesions and VSD, tetralogy of Fallot (TOF), arch anomalies, venous return abnormalities and functional markers (increased nuchal translucency, tricuspid regurgitation, ductus venosus abnormalities) comprising the remainder. Results: First-trimester detection relies on functional markers and early four-chamber and outflow-tract views, whereas second-trimester studies refine anatomic definition and hemodynamics, with MRI reserved for complex cases. Overexpression of genes such as DSCAM, COL6A1/COL6A2, DYRK1A and RCAN1 perturbs endocardial cushion, conotruncal and vascular development. Conclusions: Early, protocol-driven cardiac imaging in T21 supports timely diagnosis, risk stratification and multidisciplinary counselling, and links fetal imaging phenotypes with chromosome 21 gene dosage to advance personalized management and future genotype–phenotype research. Full article

Introduction: Pregnancy in women with end-stage kidney disease (ESKD) remains rare and high-risk, despite advancements in dialysis and supportive care. Using a nationwide database in South Korea, this study examined the maternal and neonatal outcomes among women undergoing maintenance hemodialysis, with a particular focus on dialysis modality and treatment patterns. Methods: This population-based retrospective cohort study utilized data from the Korean National Health Insurance Service database. The study included all live births between 1 January 2014 and 31 December 2022, linked to mothers who underwent hemodialysis at least twice per week during pregnancy. Results: Between 2014 and 2022, in the Republic of Korea, 31 live births were recorded among 29 women undergoing hemodialysis. The mean maternal age at delivery was 36.1 ± 4.94 years, and most patients had significant comorbidities, including hypertension (79.3%), and diabetes mellitus (48.3%). Cesarean section was the predominant mode of delivery (75.9%). Pregnancy-related complications included preterm delivery (48.4%), preeclampsia (16.1%), and gestational diabetes (16.1%). A total of 16.1% of the neonates had atrial septal defects. During the peripartum period, 93.1% of deliveries occurred at tertiary care centers, and trimester-wise escalation in dialysis frequency was observed. Conclusions: This study provided real-world data on pregnancy-related outcomes among women with ESKD undergoing maintenance dialysis in Korea. Given the rarity of this clinical condition, our findings may serve as a valuable reference for the management of pregnant women with ESKD. Full article

Transcatheter secundum atrial septal defect (ASD) closure is the preferred approach in the majority of cases. Building skill sets through understanding complex ASD anatomies is essential. Such anatomies include ASD associated with aneurysmal septum, multiple defects, absence of anterosuperior or posteroinferior rim and malaligned septum This expert-based review will focus on the key role of advanced TOE imaging during transcatheter ASD closure in challenging anatomies. We describe our institutional experience and provide a practical approach of how to plan and navigate device choice and its delivery to ensure optimal outcomes. Full article

Congenital pericardial agenesis (CPA) is a rare anomaly that is often considered a benign incidental finding but may present with nonspecific symptoms and mimic structural heart disease. Its clinical relevance remains incompletely defined, particularly regarding the distinction between a harmless anatomical variant and a clinically significant condition. We present a retrospective two-center case series of four patients with imaging-confirmed CPA, combined with a narrative review of the literature aiming to evaluate the clinical spectrum, diagnostic challenges, and management implications of CPA. The clinical presentation of our patients was heterogeneous, ranging from incidental findings to chest discomfort and dyspnea. In all cases, initial echocardiography suggested alternative diagnoses, including right ventricular cardiomyopathy, atrial septal defect, or pericardial disease, leading to diagnostic uncertainty. Definitive diagnosis was established using multimodality imaging, particularly cardiac magnetic resonance and computed tomography, which demonstrated characteristic features such as cardiac levoposition and interposition of lung parenchyma. Three patients had complete left pericardial agenesis and one had a partial defect. All patients were managed conservatively, without complications during follow-up. Full article

Background: Atrial septal defect (ASD) is common in adults and may cause chronic right ventricular (RV) volume overload and remodeling. Electrocardiography (ECG) may serve as a screening adjunct to echocardiography. Objectives: To evaluate the association of the terminal D1S + D3R ECG pattern, defined as a terminal S wave in lead I plus a terminal R wave in lead III, with structural and hemodynamic right heart involvement in adult secundum ASD. Methods: A total of 161 adult patients with secundum ASD were retrospectively analyzed. Right heart involvement was assessed using pulmonary-to-systemic flow ratio (Qp/Qs) ≥ 1.5 and a right ventricular/left ventricular (RV/LV) ratio > 1. ECG parameters, including right bundle branch block (RBBB), right axis deviation, V1–V2 R-wave positivity, and terminal D1S + D3R, were evaluated by two blinded cardiologists, with final classifications determined by consensus. Multivariable Firth penalized logistic regression, correlation analyses, and receiver operating characteristic (ROC) analyses were performed. Results: In the multivariable Firth penalized logistic regression model, pulmonary artery pressure (PAP) and ASD diameter were independently associated with Qp/Qs ≥ 1.5, whereas the terminal D1S + D3R pattern was not. The terminal D1S + D3R pattern was independently associated with RV dilatation after adjustment for age, sex, PAP, and ASD diameter (odds ratio [OR]: 9.90, 95% confidence interval [CI]: 2.82–38.20, p < 0.001) and showed good discriminatory performance for RV dilatation (area under the curve [AUC]: 0.881, 95% CI: 0.831–0.932). Conclusions: In adults with secundum ASD, a positive terminal D1S + D3R ECG pattern is independently associated with RV dilatation and may serve as a practical adjunctive screening marker. However, it should not replace echocardiographic assessment. Full article

Background: PPP1CB-related Noonan syndrome-like disorder with loose anagen hair type 2 (NSLH2; OMIM #617506) is a rare RASopathy caused by pathogenic variants in PPP1CB, encoding the catalytic beta subunit of protein phosphatase 1 (PP1C). Since its first description in 2016, only a limited number of patients have been reported, leaving the full phenotypic spectrum and genotype–phenotype correlations largely undefined. Objectives: To systematically review the clinical, molecular, and functional characteristics of NSLH2, we define its phenotypic spectrum, explore genotype–phenotype correlations, and summarize current evidence on therapeutic management. Methods: A systematic literature search was conducted across PubMed/MEDLINE, Embase, Web of Science, and Google Scholar, supplemented by searches of Orphanet, OMIM, and ClinVar, from 2016 to 2026. Studies reporting patients with pathogenic or likely pathogenic variants in PPP1CB were included. Individual patient-level data were extracted and analyzed descriptively. Additionally, we report a novel patient identified at our institution. Results: Thirty patients from 14 publications were included, harboring nine distinct PPP1CB variants. The most frequently identified variant was p.Pro49Arg (n = 17, 56.7%), followed by p.Met182Lys (n = 4, 13.3%) and p.Glu183Ala (n = 3, 10.0%). The majority of variants arose de novo (n = 26, 86.7%). Ectodermal anomalies, predominantly slow-growing and structurally abnormal hair consistent with loose anagen hair, were present in 79.3% of patients. Congenital heart defects were identified in 75.9%, with pulmonary stenosis and atrial septal defect representing the most common lesions. Short stature was documented in 69.2% of cases, and neurodevelopmental delay—encompassing motor and language delay—affected the majority of patients (72.4–84.6%). Brain structural anomalies were detected in 35.7%. Facial dysmorphic features were universal. Macrocephaly was present in 58.6% of cases, intellectual disability was reported in 26.9%, and epilepsy in 6.7%. Three familial cases with inherited p.Met182Lys transmission from an affected mother to three children are described, representing the largest reported familial cluster. Conclusions: NSLH2 is a clinically recognizable RASopathy with a consistent core phenotype comprising loose anagen hair, congenital heart defects, short stature, macrocephaly, and neurodevelopmental delay. The p.Pro49Arg variant accounts for the majority of reported cases and appears associated with a broad phenotypic expression. Larger cohorts and functional studies are needed to fully delineate genotype–phenotype correlations and guide therapeutic strategies. Full article

Background: Interventional occlusion procedures for congenital heart disease (CHD) carry the risk of complications requiring reintervention, yet predictive factors remain unclear. Methods: This retrospective case–control study included patients (n = 4190) with simple CHD who underwent transcatheter/interventional procedure (2017–2022). Perioperative and postoperative complications were monitored at 1, 3, and 6 months after occlusion. Among them, 44 patients required reintervention for complications. Statistical analysis was performed on clinical data, ultrasound findings from various locations, and laboratory examination results. Results: For atrial septal defects (ASD), independent predictors were defect size and age grading, while those for ventricular septal defects (VSD) were occluder device size, aortic annulus inner diameter, body surface area class, and whether the defect was isolated. The areas under the curve (AUC) of the receiver operating characteristic (ROC) curve for patients who experienced severe complications requiring surgical repair according to ASD were 0.723, whereas for VSD, the AUCs for occluder device size and aortic valve annulus diameter among patients who experienced severe complications requiring surgical repair were 0.649 and 0.539, respectively. Conclusions: This study provides an inaugural comprehensive analysis of occurrence rates and predictive factors for severe post-interventional occlusion procedure complications requiring reintervention. These findings offer new insights as a reference for the treatment of CHD. Full article

Purpose: To evaluate the prevalence and cardiac CT features of inferior left atrial diverticula (ILAD) communicating with the right atrium (RA) or inferior vena cava (IVC), a novel type of interatrial communication. Materials and Methods: This retrospective study included 11,512 consecutive patients who underwent cardiac CT. CT features and prevalence of ILAD communicating with the RA or IVC were analyzed. Shunts were defined as anatomical defects between the two structures with or without visible contrast flow. In a subset of the patients we compared interatrial septal aneurysm (n = 20) and ILAD without shunt (n = 66), assessing the involvement of a wedge-like fatty space bordered by both atria, IVC and coronary sinus. Results: There were 33 patients (19 males and 14 females; aged 59.8 ± 11.2 years; age range, 18–87 years) with ILAD with shunts (ILADSs). The prevalence of ILADSs was 4.2% (33/783) among ILAD and 0.3% (33/11,512) among all patients. Maximal dimensions of ILAD were 17.6 ± 9.9 mm (range, 5.3–41.0 mm). Mean ostial diameters of ILAD and mean sizes of shunts were 6.2 ± 5.6 mm and 3.2 ± 2.9 mm, respectively. Shunts were larger than 5 mm in 6 patients (15.2%) and larger than 3 mm in 10 patients (30.3%). In 30 patients who underwent transthoracic echocardiography, ILADSs were not identified at echocardiography. CT showed involvement of the wedge-like fatty space for all ILAD and for no cases with interatrial septal aneurysm. Conclusions: Cardiac CT enables detection of incidental ILADSs unrecognized at echocardiography. Full article

Background: Cardiac erosion after transcatheter closure of secundum atrial septal defect (ASD) is a rare (0.1–0.3%) but potentially life-threatening complication. Available evidence remains limited to isolated case reports and small case series. Methods: A case-based review was conducted in accordance with CABARET recommendations. PubMed, Scopus, Web of Science, and the Cochrane Central Register of Controlled Trials (CENTRAL) were searched from inception through January 2026. Adult cases with anatomically confirmed aortic or aorto-atrial erosion after transcatheter closure of a secundum ASD were included. Clinical, anatomical, procedural, imaging, management, and outcome data were synthesized descriptively. An illustrative case with aorto-atrial erosion was included. Results: A total of 40 cases, including the present case, were identified. Median age was 39.5 years, and 27 were female. Chest pain was the most common symptom, reported in 16 cases, whereas six patients were asymptomatic at diagnosis. Median time to erosion was 81 days (range, 0.25–4745 days). A deficient rim was reported in 22 patients, and device oversizing in 17 patients. All erosions involved the aortic wall, most frequently at the atrial roof adjacent to the non-coronary sinus. Aorta-right atrial and aorta-left atrial were the predominant anatomical patterns, reported in 21 and 14 patients, respectively. Surgical intervention was required in 36 cases, which consisted of device explantation with atrial and/or aortic repair. Conclusions: Aortic and aorto-atrial erosion after transcatheter secundum ASD closure is an uncommon but severe complication with heterogeneous clinical presentation and timing. Among published erosion cases, female sex, a deficient retro-aortic rim, device oversizing, and mild aortic root dilation were recurrent characteristics. Careful anatomical assessment, multimodality imaging, and continued follow-up remain essential for early recognition of cardiac erosions. Full article