Genotype-Phenotype Correlation of a Rare Transthyretin Variant Causing Amyloidosis.

Left ventricular hypertrophy is a common entity with a broad differential diagnosis. We present a case of a middle-aged woman with left ventricular hypertrophy and neuropathy caused by a rare transthyretin variant in the absence of a family history or regional reports of hereditary transthyretin amyloidosis. This report outlines the diagnosis and management of patients with a mixed phenotype of hereditary transthyretin amyloidosis and enriches clinical data supporting the pathogenicity of a rare variant of transthyretin.

Congenital giant left ventricular aneurysm.

We report a case of congenital giant left ventricular aneurysm with severely depressed systolic cardiac function who underwent early surgical resection with subsequent recovery of left ventricular systolic function.

Patent ductus arteriosus stenting versus modified Blalock-Taussig shunt for palliation of duct-dependent pulmonary blood flow lesions.

Background: Patent ductus arteriosus (PDA) stenting is an alternative to modified Blalock-Taussig shunt (MBTS) as first-stage palliation of duct-dependent lesions. The superiority of one approach over the other is still controversial. Our objective was to compare PDA  stent versusMBTS for palliation in regard to safety, efficacy, and efficiency.

Accuracy of Routine 2D Echocardiography to Estimate Patent Ductus Arteriosus Type and Dimension and Predict Device Selection for Successful PDA Occlusion.

Background: Assessment of the shape and dimensions of PDA is usually done angiographically and in the majority of cases need arterial access. Our aim was to evaluate the value of routine 2 D echocardiography (ECHO) in predicting type, dimensions of PDA and to anticipate device size to be used during the intervention.

Material And Methods: The charts of all patients who underwent transcatheter closure of PDA between January 2015 and December 2020 were reviewed.

Fick versus flow: a real-time invasive cardiovascular magnetic resonance (iCMR) reproducibility study.

Background: Cardiac catheterization and cardiovascular magnetic resonance (CMR) imaging have distinct diagnostic roles in the congenital heart disease (CHD) population. Invasive CMR (iCMR) allows for a more thorough assessment of cardiac hemodynamics at the same time under the same conditions. It is assumed but not proven that iCMR gives an incremental value by providing more accurate flow quantification.

Feasibility and safety of quantitative adenosine stress perfusion cardiac magnetic resonance imaging in pediatric heart transplant patients with and without coronary allograft vasculopathy.

Background: Pediatric heart transplant patients require cardiac catheterization to monitor for coronary allograft vasculopathy. Cardiac catheterization has no safe and consistent method for measuring microvascular disease. Stress perfusion cardiac magnetic resonance imaging (MRI) assessing microvascular disease has been performed in adults.

Lymphatic pathway evaluation in congenital heart disease using 3D whole-heart balanced steady state free precession and T2-weighted cardiovascular magnetic resonance.

Background: Due to passive blood flow in palliated single ventricle, central venous pressure increases chronically, ultimately impeding lymphatic drainage. Early visualization and treatment of these malformations is essential to reduce morbidity and mortality. Cardiovascular magnetic resonance (CMR) T2-weighted lymphangiography (T2w) is used for lymphatic assessment, but its low signal-to-noise ratio may result in incomplete visualization of thoracic duct pathway.

Retraining Convolutional Neural Networks for Specialized Cardiovascular Imaging Tasks: Lessons from Tetralogy of Fallot.

Ventricular contouring of cardiac magnetic resonance imaging is the gold standard for volumetric analysis for repaired tetralogy of Fallot (rTOF), but can be time-consuming and subject to variability. A convolutional neural network (CNN) ventricular contouring algorithm was developed to generate contours for mostly structural normal hearts. We aimed to improve this algorithm for use in rTOF and propose a more comprehensive method of evaluating algorithm performance.

Real-World Experience Measurement of Liver Iron Concentration by R2 vs. R2 Star MRI in Hemoglobinopathies.

Background: Non-invasive determination of liver iron concentration (LIC) is a valuable tool that guides iron chelation therapy in transfusion-dependent patients. Multiple methods have been utilized to measure LIC by MRI. The purpose of this study was to compare free breathing R2* (1/T2*) to whole-liver Ferriscan R2 method for estimation of LIC in a pediatric and young adult population who predominantly have hemoglobinopathies.

3D advanced imaging overlay with rapid registration in CHD to reduce radiation and assist cardiac catheterisation interventions.

Novel commercially available software has enabled registration of both CT and MRI images to rapidly fuse with X-ray fluoroscopic imaging. We describe our initial experience performing cardiac catheterisations with the guidance of 3D imaging overlay using the VesselNavigator system (Philips Healthcare, Best, NL). A total of 33 patients with CHD were included in our study.

Invasive cardiovascular magnetic resonance (iCMR) for diagnostic right and left heart catheterization using an MR-conditional guidewire and passive visualization in congenital heart disease.

Background: Today's standard of care, in the congenital heart disease (CHD) population, involves performing cardiac catheterization under x-ray fluoroscopy and cardiac magnetic resonance (CMR) imaging separately. The unique ability of CMR to provide real-time functional imaging in multiple views without ionizing radiation exposure has the potential to be a powerful tool for diagnostic and interventional procedures. Limiting fluoroscopic radiation exposure remains a challenge for pediatric interventional cardiologists.

Feasibility of real-time cine cardiac magnetic resonance imaging to predict the presence of significant retrosternal adhesions prior to redo-sternotomy.

Background: Injury to vital structures posterior to the sternum is a complication associated with redo sternotomy in congenital cardiac surgery. The goal of our study was a novel evaluation of real-time cine cardiovascular magnetic resonance (CMR) to predict the presence of significant retrosternal adhesions of cardiac and vascular structures prior to redo sternotomy in patients with congenital heart disease.

Methods: Twenty-three patients who had prior congenital heart surgery via median sternotomy had comprehensive CMR studies prior to redo sternotomy.

Feasibility of 3D black-blood variable refocusing angle fast spin echo cardiovascular magnetic resonance for visualization of the whole heart and great vessels in congenital heart disease.

Background: Volumetric black-blood cardiovascular magnetic resonance (CMR) has been hampered by long scan times and flow sensitivity. The purpose of this study was to assess the feasibility of black-blood, electrocardiogram (ECG)-triggered and respiratory-navigated 3D fast spin echo (3D FSE) for the visualization of the whole heart and great vessels.

Methods: The implemented 3D FSE technique used slice-selective excitation and non-selective refocusing pulses with variable flip angles to achieve constant echo signal for tissue with T1 (880 ms) and T2 (40 ms) similar to the vessel wall.

Sera From Children After Cardiopulmonary Bypass Reduces Permeability of Capillary Endothelial Cell Barriers.

Objectives: Children undergoing cardiopulmonary bypass develop clinically impactful capillary leak of unclear etiology. A widely held hypothesis that exposure of circulating cells to the cardiopulmonary bypass circuit induces the release of inflammatory mediators that act to disrupt intercellular junctions of capillary endothelial cells inducing paracellular capillary leak either directly or through new gene expression.

Design: Cohort study.

Quality of Life for Historic Cavopulmonary Shunt Survivors.

Background: Beginning with Dr William Glenn in 1958, 90 patients with congenital heart lesions underwent cavopulmonary (Glenn) shunts over a 30-year period. In 2015, the follow-up data on this original cohort were reported. The study focuses on the current quality of life of this cohort.

Vitamin D Status After Cardiopulmonary Bypass in Children With Congenital Heart Disease.

Deficiency in 25-hydroxyvitamin D (25OHD) is associated with increased morbidity and mortality in the critically ill. Children who underwent surgery for congenital heart disease under cardiopulmonary bypass (CPB) are typically deficient in 25OHD. It is unclear whether this deficiency is due to CPB.

Half a Century's Experience With the Superior Cavopulmonary (Classic Glenn) Shunt.

Background: Five decades after its introduction, the Glenn shunt remains an integral step for patients undergoing single-ventricle palliation. We performed a longitudinal follow-up of the original cohort of patients who underwent Glenn shunt.

Methods: We performed a retrospective study of the original cohort of patients who underwent Glenn shunt at Yale between 1958 and 1988.

A pediatric critical care perspective on vitamin D.

The mechanisms of action of vitamin D are the subject of intense investigation. Evidence now suggests vitamin D affects immune function and cell proliferation, prompting interest in its role in critical illness and cardiac disease. Multiple studies demonstrate strong associations between vitamin D deficiency and severity of illness including need for higher inotrope support, more fluid resuscitation, and longer intensive care unit stay.

Iatrogenic left pulmonary artery to left atrium fistula.

Trans-catheter balloon angioplasty is a well-established treatment modality for pulmonary artery (PA) stenosis in children with congenital heart disease. We report a case of an unusual complication where a fistula developed between the left PA and the left atrium during balloon angioplasty in a patient with history of tetralogy of Fallot. This was successfully treated with placement of a covered stent.

TGF-beta activates ERK5 in human renal epithelial cells.

The role of the MAP kinase, extracellular signal-regulated kinase 5 (ERK5) remains unknown, however it is involved in cell differentiation and survival as highlighted by the embryonic lethality of the ERK5 knockout. ERK5 can be activated by growth factors and other extracellular signals. TGF-beta, a powerful controller of epithelial cell phenotype, is known to activate the MAP kinase, ERK1/2 however its effect on ERK5 remains unknown.