Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.

Patients with fatty acid oxidation disorders (FAODs) experience muscle symptoms due to impaired ATP metabolism and the toxicity of accumulated mitochondrial FAO substrates or intermediates, especially during catabolic states. A major issue is the absence of specific and sensible biomarkers to evaluate metabolic equilibrium. The relationship between cardiac output (Q) and oxygen consumption (VO) during incremental exercise (dQ/dVO) provides an indirect surrogate of mitochondrial function.

Embracing the challenges of neonatal and paediatric pulmonary hypertension.

Paediatric pulmonary arterial hypertension (PAH) shares common features with adult disease, but is associated with several additional disorders and challenges that require unique approaches. This article discusses recent advances, ongoing challenges and distinct approaches for caring for infants and children with PAH, as presented by the paediatric task force of the 7th World Symposium on Pulmonary Hypertension. We provide updates on diagnosing, classifying, risk-stratifying and treating paediatric pulmonary hypertension (PH) and identify critical knowledge gaps.

External Validation of a Risk Score Model for Predicting Major Clinical Events in Adults After Atrial Switch.

Background: A risk model has been proposed to provide a patient individualized estimation of risk for major clinical events (heart failure events, ventricular arrhythmia, all-cause mortality) in patients with transposition of the great arteries and atrial switch surgery. We aimed to externally validate the model.

Methods And Results: A retrospective, multicentric, longitudinal cohort of 417 patients with transposition of the great arteries (median age, 24 years at baseline [interquartile range, 18-30]; 63% men) independent of the model development and internal validation cohort was studied.

Increased aortic pressures and pulsatile afterload components promote concentric left ventricular remodeling in adults with transposition of the great arteries and arterial switch operation.

Background: Functional abnormalities of the ascending aorta (AA) have been mainly reported in young patients who underwent arterial switch operation (ASO) for transposition of the great arteries (TGA).

Objectives: To compare systolic, diastolic brachial and central blood pressures (bSBP, bDBP, cSBP, cDBP), aortic biomechanical parameters, and left ventricular (LV) afterload criteria in adult ASO patients with healthy controls and to assess their relationships with LV remodeling and aortic size.

Materials And Methods: Forty-one prospectively enrolled patients (16.

Transcatheter Closure of Superior Sinus Venosus Defects.

Superior sinus venosus defect is a communication between the right and left atrium located above the upper margin of the oval fossa, immediately inferior to the junction of the superior vena cava and the right atrium. It is systematically associated with partial anomalous pulmonary venous drainage, especially of the right upper pulmonary vein. Surgical repair has been the gold standard approach to close that defect.

Cardiac Drugs in ACHD Cardiovascular Medicine.

Adult congenital heart disease (ACHD) is a growing population that requires life-long care due to advances in pediatric care and surgical or catheter procedures. Despite this, drug therapy in ACHD remains largely empiric due to the lack of clinical data, and formalized guidelines on drug therapy are currently lacking. The aging ACHD population has led to an increase in late cardiovascular complications such as heart failure, arrhythmias, and pulmonary hypertension.

Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?

Background: Lipin-1 deficiency is a life-threatening disease that causes severe rhabdomyolysis (RM) and chronic symptoms associated with oxidative stress. In the absence of treatment, Hydroxychloroquine sulfate (HCQ) was administered to patients off label use on a compassionate basis in order to improve their physical conditions.

Methods: Eleven patients with LPIN1 mutations were treated with HCQ.

Health-Related Quality of Life and Its Association With Outcomes in Adults With Congenital Heart Disease and Heart Failure: Insight From FRESH-ACHD Registry.

Background Quality of Life (QoL) is a prognostic factor in heart failure (HF) of patients with acquired cardiac disease. The aim of this study was to determine the predictive value of QoL on outcomes in adults with congenital heart disease (ACHD) and HF. Methods and Results Quality of life of 196 adults with congenital heart disease with clinical heart failure (HF) (mean age: 44.

Multicentre experience with Optimus balloon-expandable cobalt-chromium stents in congenital heart disease interventions.

Objectives: To evaluate bare-metal Optimus and polytetrafluoroethylene (PTFE)-covered Optimus-CVS balloon-expandable, cobalt-chromium, hybrid cell-designed stents in congenital heart disease (CHD) interventions.

Methods: Retrospective multicentre review of patients with CHD receiving Optimus stents. Stent mechanical behaviour, clinical indications and outcomes were assessed.

The coronavirus disease pandemic among adult congenital heart disease patients and the lessons learnt - results of a prospective multicenter european registry.

Background: At the beginning of the COVID-19 pandemic, professionals in charge of particularly vulnerable populations, such as adult congenital heart disease (ACHD) patients, were confronted with difficult decision-making. We aimed to assess changes in risk stratification and outcomes of ACHD patients suffering from COVID-19 between March 2020 and April 2021.

Methods And Results: Risk stratification among ACHD experts (before and after the first outcome data were available) was assessed by means of questionnaires.

New Approach to Accelerated Image Annotation by Leveraging Virtual Reality and Cloud Computing.

Three-dimensional imaging is at the core of medical imaging and is becoming a standard in biological research. As a result, there is an increasing need to visualize, analyze and interact with data in a natural three-dimensional context. By combining stereoscopy and motion tracking, commercial virtual reality (VR) headsets provide a solution to this critical visualization challenge by allowing users to view volumetric image stacks in a highly intuitive fashion.

Transcatheter interventions in patients with a Fontan circulation: Current practice and future developments.

The Fontan operation represents the last of multiple steps that are offered a wide range of congenital cardiac lesions with a single ventricle (SV) physiology. Nowadays this surgical program consists of a total cavopulmonary connection (TCPC), by anastomosing systemic veins to the pulmonary arteries (PAs), excluding the right-sided circulation from the heart. As a result of imaging, surgical, percutaneous, and critical care improvements, survival in this population has steadily increased.

Arrhythmic Burden of Adult Survivors With Repaired Total Anomalous Pulmonary Venous Connection.

Background: The long-term outcome of adults with repaired total anomalous pulmonary venous connection (TAPVC) is poorly documented. Therefore, the present study aims to provide current clinical data on adult survivors with repaired TAPVC focusing on arrhythmia.

Methods: Clinical and imaging data (prevalence and type of arrhythmias, symptoms, surgical and medical treatment, echocardiographic and cardiac magnetic resonance haemodynamic parameters) were retrospectively collected from 8 European centres and compared between patients with and without arrhythmias.

Impact of pregnancy on natural history of systemic right ventricle in women with transposition of the great arteries.

In the recent years, the pregnancy trend among women with Congenital Heart Disease (CHD) has increased; this has leaded to a growing demand for specialized care both in mother and in children. Although pregnancy is often well tolerated, maternal CHD may affect in some cases a maladaptive hemodynamic response carrying additional risks of cardiovascular events like arrhythmias, heart failure and, in rare cases, death. The impaired utero-placental perfusion due to maternal cardiac status may result in placental dysfunction, which may be associated with fetal growth restriction, preeclampsia, premature birth and perinatal morbidity.

A new score for life-threatening ventricular arrhythmias and sudden cardiac death in adults with transposition of the great arteries and a systemic right ventricle.

Aims: To investigate the incidence of major adverse ventricular arrhythmias and related events (MAREs) and to develop a stratification tool predicting MAREs in adults with a systemic right ventricle (sRV).

Methods And Results: In a multicentre approach, all adults (≥16 years old) with a sRV undergoing follow-up between 2000 and 2018 were identified. The incidence of MAREs, defined as sudden cardiac death, sustained ventricular tachycardia, and appropriate implantable cardioverter-defibrillator (ICD) therapy, was analysed.

Cardiac tomography-echocardiography imaging fusion: a new approach to congenital heart disease.

Introduction And Objectives: Diagnosis, management, and surgical decision-making in children and adults with congenital heart disease are largely based on echocardiography findings. A recent development in cardiac imaging is fusion of different imaging modalities. Our objective was to evaluate the feasibility of computed tomography (CT) and 3-dimensional (3D) transthoracic echocardiography (TTE) fusion in children and adults with congenital heart disease.

Health Outcomes of 215 Mothers of Children With Autoimmune Congenital Heart Block: Analysis of the French Neonatal Lupus Syndrome Registry.

Objective: Transplacental passage of maternal anti-SSA and anti-SSB antibodies, potentially associated with maternal autoimmune diseases, can cause neonatal lupus syndrome. Given the paucity of data in this setting, we report short- and long-term outcomes of mothers of offspring with congenital heart block (CHB).

Methods: This retrospective study included anti-SSA/SSB antibody-positive mothers of fetuses with high-degree CHB and focused on their health status before pregnancy, at CHB diagnosis, and thereafter.

Inferior sinus venosus defect and anomalous hepatic venous return to the coronary sinus leading to an Eisenmenger syndrome.

Inferior sinus venosus defect associated with left hepatic vein drainage to the coronary sinus is an extremely rare condition. We report the case of a 41-year-old man suffering from pulmonary arterial hypertension related to this unusual CHD. Planning of heart-lung transplantation in this case required accurate anatomical description.

Embolization of vascular abnormalities in children with congenital heart diseases using medtronic micro vascular plugs.

This study aimed at evaluating our experience with Micro Vascular Plug (MVP) for embolization of vascular abnormalities in children with congenital heart diseases (CHDs). MVP is one of the most recent additions to the armamentarium for peripheral embolization. Data on its use in congenital cardiology are scarce.