Yield of family screening for dilated cardiomyopathy: 10-year experience at a multidisciplinary cardiogenetic outpatient clinic.

Introduction: Current family screening approaches in dilated cardiomyopathy (DCM) depend on the presence or absence of a familial genetic variant, in which variant pathogenicity (i.e. benign or pathogenic) classification drives screening recommendations.

Long-term hemodynamic responses and reverse remodeling after pharmacotherapy in HFpEF versus HFrEF: a systematic review and meta-analysis.

The acute response to therapeutic afterload reduction differs between heart failure with preserved (HFpEF) versus reduced ejection fraction (HFrEF), with larger left ventricular (LV) stroke work augmentation in HFrEF compared to HFpEF. This may (partially) explain the neutral effect of HFrEF-medication in HFpEF. It is unclear whether such differences in hemodynamic response persist and/or differentially trigger reverse remodeling in case of long-term afterload reduction.

Automated noise modelling using a triangulated terrain model.

Noise simulations are an important part of noise studies that investigate the impact of noise sources on the environment. In noise simulation, noise levels at receiver points are calculated based on the noise propagation paths between the receiver and source points. These paths are derived from the height of the terrain.

A personalised computational model of the impact of COVID-19 on lung function under mechanical ventilation.

This work proposes a modelling framework to analyse flow and pressure distributions throughout the lung of mechanically ventilated COVID-19 patients. The methodology involves: segmentation of the lungs and major airways from patient CT images; a volume filling algorithm that creates a dichotomous airway network in the remaining volume of the lung; an estimate of resistance and compliance within the lung based on Hounsfield unit values from the CT scan; and a computational fluid dynamics model to analyse flow, lung inflation, and pressure throughout the airway network. Mechanically ventilated patients with differing progression and severity of the disease were simulated.

Development of non-invasive biomarkers for pre-eclampsia through data-driven cardiovascular network models.

Computational models can be at the basis of new powerful technologies for studying and classifying disorders like pre-eclampsia, where it is difficult to distinguish pre-eclamptic patients from non-pre-eclamptic based on pressure when patients have a track record of hypertension. Computational models now enable a detailed analysis of how pregnancy affects the cardiovascular system. Therefore, new non-invasive biomarkers were developed that can aid the classification of pre-eclampsia through the integration of six different measured non-invasive cardiovascular signals.

Clinical implications of different methods to assess left atrial remodeling: A comparative study between echocardiography and cardiac magnetic resonance imaging for left atrial volume index quantification.

Background: Left atrial volume index (LAVI) serves as a crucial marker for assessing left atrial (LA) remodeling, particularly in patients with mitral valve regurgitation (MR). Recent guidelines recommend a LAVI exceeding 60 mL/m as Class IIa recommendation for mitral valve repair surgery in asymptomatic MR patients with preserved left ventricular function. Traditionally, echocardiography is the standard for assessing LAVI in MR patients.

A Shot Through the Heart.

We present the case of a patient who was shot through the heart with an air rifle and presented in a stable condition at our emergency department. At the time of presentation, the bullet was still present within the myocardium. Imaging, management, and outcome are discussed in this report.

A Computational Pipeline to Investigate Longitudinal Blood Flow Changes in the Circle of Willis of Patients with Stable and Growing Aneurysms.

Changes in cerebral blood flow are often associated with the initiation and development of different life-threatening medical conditions including aneurysm rupture and ischemic stroke. Nevertheless, it is not fully clear how haemodynamic changes in time across the Circle of Willis (CoW) are related with intracranial aneurysm (IA) growth. In this work, we introduced a novel reduced-order modelling strategy for the systematic quantification of longitudinal blood flow changes across the whole CoW in patients with stable and unstable/growing aneurysm.

The effect of prone positioning on maternal haemodynamics and fetal wellbeing in the third trimester-A primary cohort study with a scoping review.

Introduction: Supine sleep position is associated with stillbirth, likely secondary to inferior vena cava compression, and a reduction in cardiac output (CO) and uteroplacental perfusion. Evidence for the effects of prone position in pregnancy is less clear. This study aimed to determine the effect maternal prone position on maternal haemodynamics and fetal heart rate, compared with left lateral position.

A rare case of partial cor triatriatum diagnosed at an adult age: a case report.

Background: Cor triatriatum sinistra (CTS) is a rare condition where the left atrium (LA) is divided by a thin membrane into an upper and lower chamber. Incidentally, the diagnosis is made in late adulthood, usually because of a favourable variant such as in our patient who presented with partial CTS.

Case Summary: We present the case of a 62-year-old female who presented with COVID-19.

The Dynamic Relationship Between Invasive Microvascular Function and Microvascular Injury Indicators, and Their Association With Left Ventricular Function and Infarct Size at 1-Month After Reperfused ST-Segment-Elevation Myocardial Infarction.

Background: The invasive microvascular function indices, coronary flow reserve (CFR) and the index of microcirculatory resistance (IMR), exhibit a dynamic pattern after ST-segment-elevation myocardial infarction. The effects of microvascular injury on the evolution of the microvascular function and the prognostic significance of the evolution of microvascular function are unknown. We investigated the relationship between the temporal changes of CFR and IMR, and cardiovascular magnetic resonance-derived microvascular injury characteristics in reperfused ST-segment-elevation myocardial infarction patients, and their association with 1-month left ventricular ejection fraction and infarct size (IS).

Transient changes during microwave ablation simulation : a comparative shape analysis.

Microwave ablation therapy is a hyperthermic treatment for killing cancerous tumours whereby microwave energy is dispersed into a target tissue region. Modelling can provide a prediction for the outcome of ablation, this paper explores changes in size and shape of temperature and Specific absorption rate fields throughout the course of simulated treatment with different probe concepts. Here, an axisymmetric geometry of a probe embedded within a tissue material is created, solving coupled electromagnetic and bioheat equations using the finite element method, utilizing hp discretisation with the NGSolve library.

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.

Covalent tRNA modifications play multi-faceted roles in tRNA stability, folding, and recognition, as well as the rate and fidelity of translation, and other cellular processes such as growth, development, and stress responses. Mutations in genes that are known to regulate tRNA modifications lead to a wide array of phenotypes and diseases including numerous cognitive and neurodevelopmental disorders, highlighting the critical role of tRNA modification in human disease. One such gene, THUMPD1, is involved in regulating tRNA N4-acetylcytidine modification (ac4C), and recently was proposed as a candidate gene for autosomal-recessive intellectual disability.

Overcoming barriers to mental health care: multimodal trauma-focused treatment approach for unaccompanied refugee minors.

Background: This study evaluated the feasibility of a short-term, multimodal trauma-focused treatment approach adapted specifically for unaccompanied refugee minors (URMs) in the Netherlands. This approach aims to overcome barriers to mental health care and to reduce symptoms of posttraumatic stress disorder (PTSD) and depression.

Methods: An uncontrolled study was conducted, evaluating the main request for help, treatment integrity and feasibility, and the course of symptoms of PTSD (Children's Revised Impact of Event Scale-13) and depression (Patient Health Questionnaire modified for Adolescents).

Functional recovery after percutaneous revascularization of coronary chronic total occlusions: insights from cardiac magnetic resonance tissue tracking.

To evaluate the effect of percutaneous coronary intervention (PCI) of coronary chronic total occlusions (CTOs) on left ventricular (LV) strain assessed using cardiac magnetic resonance (CMR) tissue tracking. In 150 patients with a CTO, longitudinal (LS), radial (RS) and circumferential shortening (CS) were determined using CMR tissue tracking before and 3 months after successful PCI. In patients with impaired LV strain at baseline, global LS (10.

Viability and functional recovery after chronic total occlusion percutaneous coronary intervention.

Objectives: This study evaluated myocardial viability as well as global and regional functional recovery after successful chronic coronary total occlusion (CTO) percutaneous coronary intervention (PCI) using sequential quantitative cardiac magnetic resonance (CMR) imaging.

Background: The patient benefits of CTO PCI are being questioned.

Methods: In a single high-volume CTO PCI center patients were prospectively scheduled for CMR at baseline and 3 months after successful CTO PCI between 2013 and 2018.

Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy.

Aims: Dilated cardiomyopathy (DCM) associated with dystrophin gene (DMD) mutations in individuals with mild or absent skeletal myopathy is often indistinguishable from other DCM forms. We sought to describe the phenotype and prognosis of DMD associated DCM in DMD mutation carriers without severe skeletal myopathy.

Methods And Results: At 26 European centres, we retrospectively collected clinical characteristics and outcomes of 223 DMD mutation carriers (83% male, 33 ± 15 years).

The etiology of cardiac hypertrophy in infants.

This study aimed to describe the variety of etiologies currently identified in infants with cardiac hypertrophy (CH) and investigate whether there is a relation with hyperinsulinism, echocardiographic characteristics and prognosis. This retrospective cohort study included infants born between 2005 and 2018 with CH measured by echocardiography [interventricular septum (IVS) and/or left ventricular posterior wall (LVPW) thickness with Z-score ≥ 2.0].

Outcomes of an interprofessional SBIRT training program: Knowledge attainment and perceived competence for practice.

One way to address substance misuse is to train health professional students in Screening, Brief Intervention, and Referral to Treatment (SBIRT), an early intervention strategy. This study evaluated a semester-long, 50-hour elective SBIRT training that blended online coursework with interprofessional experiences. Medicine, nursing, pharmacy, and social work students completed an interprofessional standardized patient experience and completed a minimum of two interprofessional SBIRT experiences at community agencies.

Dynamic left ventricular outflow tract obstruction in Takotsubo cardiomyopathy resulting in cardiogenic shock.

We report a case of a 73-year-old female patient, who was admitted to the coronary care unit due to chest pain, malaise and near syncope. During physical examination, the patient was hypotensive and there were signs of left-sided heart failure and a loud systolic murmur. Echocardiogram showed apical ballooning with dynamic left ventricular outflow tract obstruction, based on systolic anterior motion of the mitral valve with important mitral valve regurgitation.

Mismatch Between Cardiac Magnetic Resonance Imaging and Invasive Physiology.

A 74-year-old man returned to the clinic for follow-up of residual nonculprit lesions after reperfused acute inferior ST-segment elevation myocardial infarction. Stress cardiac magnetic resonance perfusion imaging demonstrated a severe perfusion defect in the anterior wall. Surprisingly, subsequent invasive assessment did not reveal hemodynamically significant obstruction in the nonculprit vessels.