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.

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.

Acquired cardiovascular disease in adults with congenital heart disease.

Rates of successful surgical repair and life expectancy for patients with congenital heart disease have increased dramatically in recent decades. Thanks to advances in diagnosis, treatment, and follow-up care, an ever-increasing number of individuals with congenital heart disease are reaching advanced age. The exposure to cardiovascular risk factors during their lifetime is modifying the outlook and late clinical trajectory of adult congenital heart disease (ACHD).

Rightward imbalanced pulmonary perfusion predicts better exercise stroke volume in children after Fallot repair.

Background: Residual lesions following Fallot repair are primarily pulmonary regurgitation and right ventricular outflow tract obstruction. These lesions may impact exercise tolerance, particularly because of a poor increase in left ventricular stroke volume. Pulmonary perfusion imbalance is also common, but its effect on cardiac adaptation to exercise is not known.

Systematic Electrophysiological Study Prior to Pulmonary Valve Replacement in Tetralogy of Fallot: A Prospective Multicenter Study.

Background: Ventricular arrhythmias and sudden death are recognized complications in tetralogy of Fallot. Electrophysiological studies (EPS) before pulmonary valve replacement (PVR), the most common reintervention in tetralogy of Fallot, could potentially inform therapy to improve arrhythmic outcomes.

Methods: A prospective multicenter study was conducted to systematically assess EPS with programmed ventricular stimulation in patients with tetralogy of Fallot referred for PVR from January 2020 to December 2021.

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.

4D flow magnetic resonance imaging to assess right ventricular outflow tract in patients undergoing transcatheter pulmonary valve replacement.

Introduction And Objectives: Magnetic resonance imaging (MRI) including 4D flow is used before percutaneous pulmonary valve implantation (PPVI). As PPVI is limited by the size of the right ventricular outflow tract (RVOT), accurate sizing is needed to plan the intervention. The aim of this study was to compare different MRI modalities and invasive angiography to balloon sizing of RVOT.

Incidence, Risk Factors, and Outcomes of Atrial Arrhythmias in Adult Patients With Atrioventricular Septal Defect.

Objectives: This study aimed to assess the incidence, associated factors, and outcomes of atrial arrhythmias in adults with atrioventricular septal defect (AVSD).

Background: Data regarding atrial arrhythmias in adults with AVSD are particularly scarce.

Methods: Data were analyzed from a multicentric cohort of adult patients with AVSD.

FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.

Background And Objectives: To determine common clinical and biological traits in 2 individuals with variants in and , displaying severe and recurrent rhabdomyolyses and lactic acidosis.

Methods: We performed a clinical characterization of 2 distinct individuals with biallelic or variants from 2 separate families and a biological characterization with muscle and cells from those patients.

Results: The individual with variants was clinically more affected than the individual with variants.

Cardiovascular events in perimembranous ventricular septal defect with left ventricular volume overload: a French prospective cohort study (FRANCISCO).

Unlabelled: The long-term prospective multi-centre nationwide (French) observational study FRANCISCO will provide new information on perimembranous ventricular septal defect with left ventricular overload but no pulmonary hypertension in children older than 1 year. Outcomes will be compared according to treatment strategy (watchful waiting, surgical closure, or percutaneous closure) and anatomic features of the defect. The results are expected to provide additional guidance about the optimal treatment of this specific population, which is unclear at present.

Effect of medical treatment on heart failure incidence in patients with a systemic right ventricle.

Background: To date, clinical trials have been underpowered to demonstrate a benefit from ACE inhibitors (ACEis) or angiotensin II receptor blockers (ARBs) in preventing systemic right ventricle (sRV) failure and disease progression in patients with transposition of the great arteries (TGA). This observational study aimed to estimate the effect of ACEi and ARB on heart failure (HF) incidence and mortality in a large population of patients with an sRV.

Methods: Data on all patients with an sRV under active follow-up at two tertiary centres between January 2007 and September 2018 were studied.

Catheter ablation in adults with congenital heart disease: A 15-year perspective from a tertiary centre.

Background: With the growing adult congenital heart disease (ACHD) population, the number of catheter ablation procedures is expected to dramatically increase. Data reporting experience and evolution of catheter ablation in patients with ACHD, over a significant period of time, remain scarce.

Aim: We aimed to describe temporal trends in volume and outcomes of catheter ablation in patients with ACHD.

Responses to exercise training in patients with heart failure. Analysis by oxygen transport steps.

Background: Exercise training (ET) increases exercise tolerance, improves quality of life and likely the prognosis in heart failure patients with reduced ejection fraction (HFrEF). However, some patients do not improve, whereas exercise training response is still poorly understood. Measurement of cardiac output during cardiopulmonary exercise test might allow ET response assessment according to the different steps of oxygen transport.

Predictors of low exercise cardiac output in patients with severe pulmonic regurgitation.

Background And Objectives: Chronic pulmonic regurgitation (PR) following repair of congenital heart disease (CHD) impairs right ventricular function that impacts peak exercise cardiac index (pCI). We aimed to estimate in a non-invasive way pCI and peak oxygen consumption (pVO) and to evaluate predictors of low pCI in patients with significant residual pulmonic regurgitation after CHD repair.

Method: We included 82 patients (median age 19 years (range 10-54 years)) with residual pulmonic regurgitation fraction >40%.

Neopulmonary Outflow Tract Obstruction Assessment by 4D Flow MRI in Adults With Transposition of the Great Arteries After Arterial Switch Operation.

Background: The main complication in adult patients with transposition of the great arteries (TGA) treated by an arterial switch operation (ASO) is neopulmonary outflow tract stenosis (NPOTS). However, pulmonary flow velocity measurements cannot always be performed with transthoracic echocardiography (TTE) due to complex anatomical features. 4D flow MRI allows detection, quantification, and location of the obstruction site along the NPOTS.

Prevalence, features and predictive factors of liver nodules in Fontan surgery patients: The VALDIG Fonliver prospective cohort.

Background & Aims: Fontan surgery is used to treat a variety of congenital heart malformations, and may lead to advanced chronic liver disease in the long-term. This study examines the prevalence, characteristics and predictors of liver nodules in patients following Fontan surgery.

Methods: This was a prospective, cross-sectional, observational study conducted at 8 European centres.

Aortic angle is associated with neo-aortic root dilatation and regurgitation following arterial switch operation.

Introduction: Neo-aortic root dilatation and regurgitation are common progressive long-term complications of the arterial switch operation (ASO) for transposition of the great arteries (TGA) with increasing clinical burden. While several risk factors have been identified, most are constitutional. The acute aortic angle commonly seen after ASO might alter aortic dynamics and facilitate progression of the neo-aortic root dilatation and aortic regurgitation, but insufficient data is available.

Impact of a centre and home-based cardiac rehabilitation program on the quality of life of teenagers and young adults with congenital heart disease: The QUALI-REHAB study rationale, design and methods.

Background: Advances in congenital heart disease (CHD) have transferred the mortality from childhood to adulthood. Exercise capacity in young patients with CHD remains lower than in the general population, resulting in deconditioning and impaired quality of life. Evidence based-medicine in cardiac rehabilitation in this age group with CHD remains limited.

Pathophysiology and natural history of atrial septal defect.

Atrial septal defects are among the third most common types of congenital heart disease. This group of malformations includes several types of atrial communications allowing shunting of blood between the systemic and the pulmonary circulations. The nature of shunting across the defect in patients with atrial septal defect is of particular interest.

Cardiac function and exercise adaptation in 8 children with LPIN1 mutations.

Introduction: Lipin-1 deficiency is a major cause of rhabdomyolysis that are precipitated by febrile illness. The prognosis is poor, with one-third of patients dying from cardiac arrest during a crisis episode. Apart from acute rhabdomyolysis, most patients are healthy, showing normal clinical and cardiac ultrasound parameters.