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.

Computer-generated Clinical Decision-making in the Treatment of Pulmonary Atresia with Intact Ventricular Septum.

Purpose: Pulmonary atresia with intact ventricular septum is a multifactorial disease requiring complex surgeries. The treatment route is determined based on the right ventricle (RV) size, tricuspid annulus size and coronary circulation dependency of RV. Since multiple parameters influence the post-operative success, a personalized decision-making based on computed hemodynamics is hypothesized to improve the treatment efficacy.

Thymic stromal lymphopoietin modulates T cell response and improves cardiac repair post-myocardial infarction.

Background: The inflammatory response is associated with cardiac repair and ventricular remodeling after myocardial infarction (MI). The key inflammation regulatory factor thymic stromal lymphopoietin (TSLP) plays a critical role in various diseases. However, its role in cardiac repair after MI remains uncertain.

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.

Immediate Use of Impella CP for High-Risk Percutaneous Coronary Intervention After Repair of Thrombosed Aortic Coarctation.

Aortic coarctation represents up to 7% of congenital heart diseases and is associated with hypertension and coronary artery disease, which continues to be the leading cause of death even after successful surgical repair. However, there is limited knowledge of managing both conditions, especially in the setting of an acute coronary syndrome. We herein present the case of a 53-year-old man with a history of hypertension who initially presented with an ST-elevation myocardial infarction successfully treated with thrombolysis and hemodynamic compromise.

The Potential of Hair-Follicle-Associated Pluripotent (HAP) Stem Cells for Regenerative Medicine.

Nestin-expressing hair-follicle-associated pluripotent (HAP) stem cells from mouse and human have been shown to differentiate into neurons, glia, keratinocytes, smooth muscle cells, cardiac muscle cells, and melanocytes in vitro. HAP stem cells have promoted the recovery of peripheral nerve and spinal cord injuries in mouse models by differentiating into glial fibrillary acidic protein (GFAP)-positive Schwann cells. HAP stem cells enclosed on polyvinylidene fluoride membranes (PFM) were transplanted into the severed thoracic spinal cord of nude mice.

Complete percutaneous repair of Tetralogy of Fallot in adult: a case report.

Tetralogy of Fallot (TOF) is the most common congenital cyanotic heart disease and is characterized by an antero-superior deviation of the infundibular septum with a consequent large malaligned ventricular septal defect (VSD) and a pulmonary and sub-pulmonary (infundibular) stenosis. Surgical repair has been the cornerstone of treatment that is electively performed early in their lives between 3 and 6 months of age. With advancements in transcatheter interventions, the complete percutaneous repair of TOF, a complex disease with multiple treatable lesions, is becoming a conceivable possibility.

A simplified approach to managing a complex infected left ventricular pseudoaneurysm.

Background: Left ventricular pseudoaneurysm (LVP) is a rare but life-threatening condition resulting from acute myocardial infarction, trauma, bacterial infection, or previous cardiac operations. Diagnosis can be challenging as LVPs remain asymptomatic or present with nonspecific clinical symptoms. Early diagnosis is crucial to prevent rupture and recurrent septicemia.

A clinical perspective on surgical and diagnostic strategies for neonatal partial shone complex: Insights from a case report.

Introduction And Clinical Importance: Shone complex (SC) is a rare multilevel congenital heart disease (CHD) characterized by four left-sided heart obstructive lesions: parachute mitral valve, supravalvular mitral ring, subaortic stenosis, and coarctation of the aorta (CoA), accounting for 0.6-0.7 % of CHD cases.

Cardiac magnetic resonance imaging in repaired tetralogy of Fallot: A longitudinal midterm follow-up study.

Background: Biventricular dysfunction is frequent in patients with repaired tetralogy of Fallot, necessitating routine imaging to monitor for worsening conditions and determine whether procedures like pulmonary valve replacement (PVR) are needed. This study aimed to highlight the parameters of cardiac magnetic resonance imaging (CMR) and their association with adverse outcomes in the midterm follow-up of these patients.

Methods: This longitudinal study recruited all patients with a history of tetralogy of Fallot total correction (TFTC) who had two CMR images at a minimum three-month interval at Rajaie Center from 2007 through 2017.

Complete surgical correction of tetralogy of Fallot with Ebstein's anomaly.

Association of Ebstein's anomaly of tricuspid valve (TV) with tetralogy of Fallot (TOF) is extremely rare. Their coexistence is unique as they modify each other's physiology. We report a case of a girl child having this rare combination along with Diamond-Blackfan syndrome awaiting a bone marrow transplant.

Transcatheter pulmonary valve implantation with custom-made 35-mm Myval™ transcatheter heart valve.

Transcatheter pulmonary valve implantation (TPVI) is the standard of care in patients with repaired tetralogy of Fallot (rTOF) presenting with right ventricular outflow tract (RVOT) dysfunction. However, the feasibility of TPVI is limited by the high cost and nonavailability of larger-sized valves for dilated native RVOT of rTOF patients. We report the first successful TPVI with a custom-made 35 mm balloon-expandable valve (Myval™) in a 30-year-old rTOF patient with severe pulmonary regurgitation and RV dysfunction.

Anomalous left coronary artery origin from the nonfacing sinus of pulmonary artery - Successful repair of a rare entity.

Anomalous left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital heart disease, presenting either in isolation or with other cardiac anomalies. The most common presentation is congestive heart failure in infancy, though some may remain asymptomatic till adulthood. A 5-month-old infant with congestive heart failure was diagnosed to have ALCAPA with severe Left ventricular (LV) dysfunction.

Moderate mitral regurgitation in association with ventricular septal defect in children: Does it warrant mitral valve repair?

Background: The management of ventricular septal defect (VSD) alongside mitral regurgitation (MR) in pediatric patients remains a contentious issue due to the intricacies of cardiac surgery and the need to minimize ischemic time. Despite observations of MR regression following VSD closure, definitive guidelines for this patient subset are lacking, particularly concerning the management of the subgroup of patients with moderate MR. The objective of the study is to explore the factors influencing the choice between surgical intervention and conservative management for the mitral valve (MV) in VSD patients with moderate MR.

A case report of pre-implantation feasibility test for combining leadless pacemaker and subcutaneous implantable cardioverter-defibrillator in adult congenital heart disease.

Unlabelled: New cardiac implantable electronic devices (CIEDs), such as leadless pacemakers and subcutaneous implantable cardioverter defibrillators (S-ICDs), are being used in patients with adult congenital heart disease. The selection of CIEDs often requires careful consideration due to technical challenges posed by a unique heart structure. A 27-year-old man following a surgical tetralogy of Fallot (TOF) repair developed non-sustained ventricular tachycardia, sick sinus syndrome, and complete atrioventricular block.

[Study on the prevention of vocal cord adhesion after operation of T1b glottic carcinoma by repairing the wound with transposition of ventricular mucosal flap].

To explore the feasibility of one-stage repair and reconstruction of glottic area wounds with the ventricular mucosal flap to prevent postoperative vocal cord adhesion in patients with T1b glottic laryngeal cancer. This case series study involved the research and analysis of clinical data of 12 patients with T1b glottic laryngeal cancer treated in the Department of Otorhinolaryngology, the Second Affiliated Hospital of Zhejiang University School of Medicine from January 2021 to June 2023. All patients were male, aged 50-85 years (median age 64.

The Right Ventricle and Exercise Capacity in Adults with Repaired Tetralogy of Fallot: Passive Bystander or Active Participant?

Exercise intolerance is a hallmark symptom in adults with repaired tetralogy of Fallot (TOF). This may be attributed to the disease-related impairment in RV systolic function, augmentation in right ventricular (RV) load, and their combined effect on altering left ventricular (LV) hemodynamics. To further elucidate these mechanisms, we examined oxygen uptake (VO) by indirect-calorimetry and cardiac hemodynamics by echocardiography in 34 TOF (48 ± 14 yrs) and 29 healthy controls (41 ± 15 yrs), at rest and during exercise.

Navigating the Spectrum of Double-İnlet Left Ventricle Presentations: Contemporary Retrospective Cohort Study.

Purpose: We presented the experience of a tertiary care center for maternal and fetal diseases and assessed the findings fetuses with double-inlet left ventricle (DILV) regarding fetal echocardiography, prenatal course including fetal growth and death, and postnatal outcome.

Methods: In this retrospective study, patients diagnosed with DILV via prenatal ultrasound in the maternal-fetal medicine department between 2015 and 2023 were included to evaluate important aspects of prenatal diagnosis and course, as well as postnatal management and outcome.

Results: There were 33 DILV cases prenatally diagnosed and postnatally confirmed.

Interventional Treatment of Acute Right Ventricular Outflow Tract Infectious Endocarditis: A Bridge to Surgical or Percutaneous Pulmonary Valve Replacement.

Background: Infective endocarditis (IE) poses significant risks following percutaneous pulmonary valve implantation (PPVI) or surgical replacement (PVR).

Aims: This study evaluates the effectiveness of emergency percutaneous treatment in stabilizing patients with severe right ventricular dysfunction or obstructive cardiac shock, allowing for delayed surgical or percutaneous valve replacement.

Methods: This retrospective study examines 16 patients (age 19.

Right Ventricular Metastasis of Ewing Sarcoma Treated Through Surgical Resection.

A 27-year-old man diagnosed with right ventricular metastasis of Ewing sarcoma was referred to our institution. We surgically resected the metastatic tumor to prevent sudden death and reconstructed the right ventricle and tricuspid valve. He has survived for 1 year postoperatively without recurrence.

[The multi-center mid-term clinical outcomes of combined complete preservation of chordal structure mitral valve replacement with total anatomic complete arterial myocardial revascularization for coronary patients with moderate-to-severe or severe ischemic mitral regurgitation].

To evaluate the clinical outcomes of combined complete preservation of chordal structure mitral valve replacement (C-MVR) with total anatomical arterial myocardial revascularization (TACR) in coronary patients with moderate-to-severe or severe ischemic mitral regurgitation (IMR). This is a retrospective multi-center case series study. Data were retrospectively collected from 127 patients with coronary artery disease with moderate to severe or severe IMR who received TACR with C-MVR from July 2015 to April 2024 in 13 hospitals in China.

Use of Right Ventricular Free-Wall Strain in a Multivariable Estimate of Right Ventricular-Arterial Coupling in Pediatric Pulmonary Arterial Hypertension.

Background: Right ventricular-arterial coupling (RVAC) describes the relationship between right ventricular contractility and pulmonary vascular afterload. Noninvasive surrogates for RVAC using echocardiographic estimates of right ventricular function, such as tricuspid annular plane systolic excursion (TAPSE), have been shown to correlate with invasively measured RVAC and predict clinical outcomes in pediatric pulmonary arterial hypertension. However, given the limitations of TAPSE at accurately estimating right ventricular function in children, we hypothesized that a multivariable estimate of RVAC using right ventricular free-wall longitudinal strain (RVFW-LS) may perform better than those utilizing TAPSE at predicting clinical outcomes.

Anisotropic conductive scaffolds for post-infarction cardiac repair.

Myocardial infarction (MI) remains one of the most common and lethal cardiovascular diseases (CVDs), leading to the deterioration of cardiac function due to myocardial cell necrosis and fibrous scar tissue formation. Myocardial infarction (MI) remains one of the most common and lethal cardiovascular diseases (CVDs), leading to the deterioration of cardiac function due to myocardial cell necrosis and fibrous scar tissue formation. After MI, the anisotropic structural properties of myocardial tissue are destroyed, and its mechanical and electrical microenvironment also undergoes a series of pathological changes, such as ventricular wall stiffness, abnormal contraction, conduction network disruption, and irregular electrical signal propagation, which may further induce myocardial remodeling and even lead to heart failure.

Optimal site of pacemaker lead implantation for persistent atrial standstill guided by electroanatomical mapping following a cox-maze procedure: a case report.

Background: Atrial standstill is characterized by the absence of atrial activity. We report a case of a patient with extensive atrial fibrosis who underwent electrophysiologic study (EPS) and electroanatomical mapping (EAM) to identify surviving atrial sites amenable for pacemaker lead implantation.

Case Summary: A 72-year-old man with persistent atrial fibrillation (AF) and atrial functional mitral regurgitation/tricuspid regurgitation (MR/TR) underwent a Cox-Maze surgery, mitral and tricuspid valve repair, and biatrial plication.

Left Ventricular and Atrial Function Analysis Following Transcatheter Edge-to-Edge Mitral Valve Repair.

Conventional echocardiography used to assess volumes of the left ventricle (LV) and left atrium (LA) along with mitral regurgitation grade is routine in studies before and after transcatheter edge-to-edge mitral valve repair (Mitral TEER). Previous studies focus on LV parameter changes and comparison of the functions before and a few months following Mitral TEER implantation, as well as LA reverse remodeling, by assessing LV volumes. However, less is known regarding LA strain changes in the early phase after the procedure.