NONO-related X-linked intellectual disability syndrome: further clinical and molecular delineation.

The X-linked NONO gene encodes Non-Pou Domain-Containing Octamer-Binding Protein, a multifunctional member of the DBHS family involved in transcriptional regulation, RNA splicing and DNA repair. Pathogenic variants in NONO cause Intellectual Developmental Disorder, X-linked Syndromic (MIM #300967), characterised by intellectual disability, neurodevelopmental delay, cardiomyopathy, such as left ventricular non-compaction (LVNC), and congenital heart defects such as including atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), and patent foramen ovale (PFO). This study reports three new patients with pathogenic hemizygous frameshift variants in NONO identified with exome sequencing, broadening the clinical presentation.

Association of Preoperative Oxygen Saturation and McGoon Ratio With Early Prognosis of Tetralogy of Fallot: A Propensity Score-Matched Analysis.

Aim: Tetralogy of Fallot (TOF) is the most common cyanotic heart disease. This study aimed to demonstrate the effects of preoperative oxygen saturation on the early prognosis of TOF and identify risk factors associated with early complications.

Method: A cohort of 1,138 patients who were diagnosed and underwent one-stage surgical repair in this hospital were retrospectively included in this study.

Bilateral thalamic infarction with posterior cerebral artery variant (the arcade artery): A case report.

Rationale: Bilateral thalamic infarction is a rare type of posterior circulation stroke, and it often presents with a reduced level of consciousness in the elderly. Arteriosclerosis is the primary etiology of bilateral thalamic infarction, including conditions such as native vessel stenosis or arterial-to-arterial embolism. Cardiogenic or paradoxical embolism can also lead to thrombosis of the perforator branches innervating the thalamus, and these emboli tend to disintegrate and lead to multiple lesions, even in elderly patients.

Traumatic Atrial Septal Defect with Tricuspid Regurgitation Following Blunt Chest Trauma Presenting as Hypoxemia: A Case Report.

Introduction: Although myocardial injury is common after blunt chest trauma, tricuspid valve injury associated with traumatic atrial septal defect resulting in acute hypoxia is an infrequent event. We report an unusual case of blunt chest trauma referred to us for unexplained hypoxemia, emphasizing the unusual nature of injury and the importance of comprehensive cardiac evaluation in such cases.

Case Report: A 35-year-old male presented to the emergency department after falling from a tree from an approximate height of 15 feet.

An Echocardiographic Study of a Rare Cause of Mitral Regurgitation: Hypoplastic Posterior Mitral Valve Leaflet.

Background: The precise etiology of hypoplasia of the posterior mitral valve leaflet (PMVL) remains incompletely elucidated; however, it has been hypothesized to stem from genetic mutations occurring during fetal development. Herein, we present the anatomical characteristics of the mitral valve and associated cardiac pathologies in patients with hypoplastic PMVL.

Methods: This single-center retrospective study involved patients who presented between 2015 and 2021 at a tertiary healthcare facility.

Multimodality Evaluation of Turner Syndrome With Right Ventricular Dilation and Partial Anomalous Pulmonary Venous Return.

Turner syndrome is a rare chromosomal abnormality in women that is caused by a partial or complete loss of one X chromosome and is often associated with a spectrum of congenital cardiac abnormalities, including cardiac shunts.  A 27-year-old woman with Turner syndrome was also found to have right ventricular dilation, partial anomalous pulmonary venous return, and possible atrial septal defect. She was scheduled for elective surgical repair.

Prevalence of Congenital Heart Disease in Children and Adolescents Under 18 in Africa: A Systematic Review and Meta-Analysis.

Background: There are limited population-based studies on congenital heart disease (CHD) in the pediatric population in Africa. Technological advancements in diagnostic tools have resulted in multiple echocardiographic studies in hospital settings. We aimed to determine the prevalence of CHD in both settings (population-based and hospital based) followed by comparing the two estimates for a difference.

Pediatric cardiac interventions: Innovations from India.

India, owing to its population structure, faces an enormous burden of children born with congenital heart disease (CHD). Systematic challenges such as limited public health infrastructure, a shortage of trained specialists, and high out-of-pocket expenditures hinder uniform access to comprehensive CHD care. Despite these limitations, Indian pediatric cardiologists have delivered innovative and often cost-effective solutions to challenging clinical problems.

Late-onset aortic regurgitation after device closure of atrial septal defect.

A 10-year-old girl underwent successful device closure of a 15-mm atrial septal defect with a short and thick retroaortic rim using a 16-mm atrial septal occluder from the conventional approach under transesophageal echocardiographic guidance. There were no periprocedural complications. The aortic valve was noted to be trileaflet and competent.

Covered Stent Correction for Sinus Venosus Atrial Septal Defects, an Emerging Alternative to Surgical Repair: Results of an International Registry.

Background: Covered stent correction for a sinus venosus atrial septal defect (SVASD) was first performed in 2009. This innovative approach was initially viewed as experimental and was reserved for highly selected patients with unusual anatomic variants. In 2016, increasing numbers of procedures began to be performed, and in several centers, it is now offered as a standard of care option alongside surgical repair.

Paradoxical Infarction? Inferior STEMI With Unexpected Discovery of ASD in an Oncology Patient: A Case of Combined Percutaneous Intervention.

This case report explores the management of a 56-year-old female oncology patient presenting with acute ST-elevation myocardial infarction (STEMI) and an incidental atrial septal defect (ASD). The patient, with a history of rectal cancer and hypothyroidism, experienced acute chest pain and dyspnea. She was diagnosed with an inferior STEMI and underwent percutaneous coronary intervention (PCI) with the placement of three medicated stents in the right coronary artery.

Surgical Explantation of an Amplatzer Device for Patent Foramen Ovale Closure in a Patient With Nickel Allergy: A Case Report.

Patent foramen ovale (PFO) closure using percutaneous devices, such as the Amplatzer occluder, is a common treatment for patients with a history of cryptogenic stroke or transient ischemic attack (TIA). Although generally well-tolerated, some patients may develop adverse reactions to the device materials, particularly in the presence of a nickel allergy. Symptoms can include chest pain, rashes, and migraines, which may necessitate surgical removal of the device.

Effects of atrial septal defects on the cardiac conduction system.

The case report presented in this edition by Mu . The report presents a case of atrial septal defect (ASD) associated with electrocardiographic changes, noting that the crochetage sign resolved after Selective His Bundle Pacing (S-HBP) without requiring surgical closure. The mechanisms behind the appearance and resolution of the crochetage sign remain unclear.

Cardiac arrest in pregnancy with successful stabilization and delivery on veno-arterial extracorporeal membrane oxygenation: a case report.

Background: Cardiac arrest in pregnancy is rare. Clinicians need to adapt management to the altered anatomy and physiology of pregnancy, and the well-being of two patients (mother and foetus) may come into consideration. The medical literature has limited reports on outcomes following extracorporeal membrane oxygenation (ECMO) in pregnancy.

Anesthetic Consideration for Modified Electroconvulsive Therapy in an Adolescent With Uncorrected Atrial Septal Defect: A Case Report.

Catatonia is a serious neuropsychiatric syndrome of motor and behavioral dysfunction where electroconvulsive therapy (ECT) is a well-proven treatment modality. ECT is also preferred as it is a low-risk procedure compared to chronic medications having significant side effects. However, the cardiovascular events that occur during ECT are a major cause of morbidity and mortality in patients with an abnormal cardiovascular pathophysiology.

Recurrent cutaneous decompression sickness in a hyperbaric chamber attendant with a large persistent foramen ovale.

A 41-year-old female nurse had cutaneous decompression sickness on two occasions after acting as an inside chamber attendant for patients receiving hyperbaric oxygen. She breathed air during the treatments at pressures equivalent to 14 and 18 metres of seawater, but each time she decompressed whilst breathing oxygen. Latency was 2.

Robotic repair of atrial septal defect: Pre-groove vertical right atriotomy approach.

Objective: Minimally invasive repair using robotic systems has been accepted as an attractive alternative in the surgical repair of atrial septal defects (ASDs). Clear exposure of the entire rim of the ASD is often hindered during a robotic approach. Here, we describe an approach using vertical right atriotomy along the interatrial groove that may enhance the exposure of the ASD.

[Immediate outcomes of simultaneous Cox-Maze procedure in patients with isolated and multivalvular heart defects via right mini-thoracotomy].

Objective: To evaluate the immediate outcomes and safety of simultaneous Maze procedure in patients with isolated and multivalvular heart disease via right-sided mini-thoracotomy.

Material And Methods: A retrospective analysis of postoperative outcomes included 21 patients with various valvular heart diseases and atrial septal defects with atrial fibrillation. All patients underwent heart valve surgery with cryoablation (left atrial, right atrial or biatrial «Maze» approach) via right-sided mini-thoracotomy.

Survival prospects of pulmonary arterial hypertension associated with congenital heart disease: Insights from the HOPE registry.

Background: Pulmonary arterial hypertension (PAH) is a severe complication among adult patients with congenital heart disease (ACHD). This study presents real-world data on risk stratification, pharmacotherapy and survival rates in PAH-ACHD.

Methods: Data from PAH-ACHD patients were analyzed using The Hellenic Pulmonary Hypertension Registry (HOPE), spanning eight specialized centers between 2015 and 2023.

The pathogenic role of calcitonin gene-related peptide and predictors of new-onset migraine and long-term outcomes after transcatheter atrial septal defect closure.

Objective: To evaluate factors associated with new-onset migraine (NOM) after transcatheter atrial septal defect (ASD) closure and predictors of unremitting NOM. The pathogenic role of migraine biomarkers such as calcitonin gene-related peptide (CGRP) and neuropeptide Y (NPY) were also assessed.

Background: New-onset migraine has been observed after transcatheter ASD closure.

The Relationship Between the Triglyceride-Glucose Index and Cryptogenic Stroke in Patients with Patent Foramen Ovale.

Objective: This study aimed to investigate the association between the triglyceride-glucose (TyG) index and cryptogenic stroke (CS) in patients diagnosed with patent foramen ovale (PFO) using transesophageal echocardiography (TEE).

Methods: A retrospective, single-center study was conducted at a tertiary education and research hospital from January 2015 to December 2023. The study population included 1017 consecutive patients with sinus rhythm diagnosed with PFO, of whom 210 had CS.

Evaluation of Postnatal Echocardiographic Screening for Congenital Heart Defects - a Prospective Cohort Study at a German University Hospital.

Background: Congenital heart defects (CHD) being the most common congenital malformation, significantly impact mortality and morbidity in children and adults. Early detection greatly improves treatment and prognosis. Routine pulse oximetry screening and fetal echocardiography in Germany have advanced early CHD diagnosis.

[Clinical features and genetic analysis of two children with Mowat-Wilson syndrome due to variants of ZEB2 gene].

Objective: To explore the clinical features and genetic variants in two children with Mowat-Wilson syndrome (MWS).

Methods: Two children admitted to the Affiliated Women and Children's Hospital of Ningbo University respectively in May and October 2022 were selected as the study subjects. Clinical data of the patients were collected.