Indexing left ventricular end-systolic dimension to body size: Association with mortality in patients with degenerative mitral regurgitation.

Aims: In patients with degenerative mitral regurgitation (DMR), left ventricular (LV) dysfunction is associated with increased risk of heart failure and excess mortality. LV end-systolic diameter (LVESD) is an established trigger for intervention, yet recommended LVESD thresholds apply poorly to patients with small body size. Whether LV normalization to body surface area (BSA) may be used as a trigger for DMR correction is unknown.

Degenerative mitral regurgitation due to flail leaflet: sex-related differences in presentation, management, and outcomes.

Background And Aims: Presentation, outcome, and management of females with degenerative mitral regurgitation (DMR) are undefined. We analysed sex-specific baseline clinical and echocardiographic characteristics at referral for DMR due to flail leaflets and subsequent management and outcomes.

Methods: In the Mitral Regurgitation International Database (MIDA) international registry, females were compared with males regarding presentation at referral, management, and outcome (survival/heart failure), under medical treatment, post-operatively, and encompassing all follow-up.

is a mechanosensitive transcription factor gene required for cardiac valve morphogenesis.

Biomechanical forces, and their molecular transducers, including key mechanosensitive transcription factor genes, such as , are required for cardiac valve morphogenesis. However, mutants fail to completely recapitulate the valveless phenotype observed under no-flow conditions. Here, we identify the transcription factor EGR3 as a conserved biomechanical force transducer critical for cardiac valve formation.

Mitral transcatheter edge-to-edge repair vs. isolated mitral surgery for severe mitral regurgitation: a French nationwide study.

Background And Aims: Mitral valve surgery and, more recently, mitral transcatheter edge-to-edge repair (TEER) are the two treatments of severe mitral regurgitation in eligible patients. Clinical comparison of both therapies remains limited by the number of patients analysed. The objective of this study was to analyse the outcomes of mitral TEER vs.

Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish.

Bicuspid aortic valve (BAV), the most common cardiovascular malformation occurs in 0.5-1.2% of the population.

Prognostic value of forward flow indices in primary mitral regurgitation due to mitral valve prolapse.

Background: Degenerative mitral regurgitation (DMR) due to mitral valve prolapse (MVP) is a common valve disease associated with significant morbidity and mortality. Timing for surgery is debated for asymptomatic patients without Class I indication, prompting the search for novel parameters of early left ventricular (LV) systolic dysfunction.

Aims: To evaluate the prognostic impact of preoperative forward flow indices on the occurrence of post-operative LV systolic dysfunction.

Expanding the phenome and variome of the ROBO-SLIT pathway in congenital heart defects: toward improving the genetic testing yield of CHD.

Background: Recent studies have shown the implication of the ROBO-SLIT pathway in heart development. Within this study, we aimed to further assess the implication of the ROBO and SLIT genes mainly in bicuspid aortic valve (BAV) and other human congenital heart defects (CHD).

Methods: We have analyzed a cohort of singleton exome sequencing data comprising 40 adult BAV patients, 20 pediatric BAV patients generated by the Pediatric Cardiac Genomics Consortium, 10 pediatric cases with tetralogy of Fallot (ToF), and one case with coarctation of the aorta.

Genetic and phenotypic continuum of HOXA genes: A case with double HOXA9/HOXA13 mutations.

The genes cluster plays a key role in embryologic development. Mutations in genes have been linked to different human phenotypes, including developmental delay, limb anomalies, and urogenital malformations. The present study reported a clinical and genetic investigation of a female patient with polymalformative syndrome including left arm agenesis, bicornuate uterus and bicuspid aortic valve.

Variants as Genetic Arrhythmias Triggers for Familial Bileaflet Mitral Valve Prolapse.

Mitral valve prolapse (MVP) is a common valvular heart defect with variable outcomes. Several studies reported MVP as an underestimated cause of life-threatening arrhythmias and sudden cardiac death (SCD), mostly in young adult women. Herein, we report a clinical and genetic investigation of a family with bileaflet MVP and a history of syncopes and resuscitated sudden cardiac death.

Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease.

Bicuspid aortic valve (BAV) is the most common congenital heart defect with a high index of heritability. Patients with BAV have different clinical courses and disease progression. Herein, we report three siblings with BAV and clinical differences.

Clinical insights into a tertiary care center cohort of patients with bicuspid aortic valve.

Although bicuspid aortic valve (BAV) is one of the most common congenital heart diseases, clinical data associated with valve dysfunction are still limited. We evaluated clinical characteristics and echocardiography of French patients with BAV associated with leaking and stenosis degeneration. We initiated a prospective registry from 2014 to 2018 at a tertiary center.

Identification of a peripheral blood gene signature predicting aortic valve calcification.

Calcific aortic valve disease (CAVD) is a significant cause of illness and death worldwide. Identification of early predictive markers could help optimize patient management. RNA-sequencing was carried out on human fetal aortic valves at gestational , , and and on a case-control study with adult noncalcified and calcified bicuspid and tricuspid aortic valves.

Left atrial dysfunction as marker of poor outcome in patients with hypertrophic cardiomyopathy.

Background: The incremental prognostic value of left atrial (LA) dysfunction, emerging in various clinical contexts, remains poorly explored in hypertrophic cardiomyopathy (HCM).

Objective: To assess LA strain correlation with outcome in HCM.

Methods: A cohort of all 307 consecutive patients presenting with HCM between 2007 and 2017 (54±17 years; 34% women), with comprehensive echocardiography at diagnosis and LA peak longitudinal strain (PALS) and LA peak contraction strain (PACS) measurement, was enrolled and occurrence of HCM related cardiac events analysed.

Cardiac magnetic resonance assessment of left ventricular dilatation in chronic severe left-sided regurgitations: comparison with standard echocardiography.

Purpose: The purpose of this study was to investigate the potential additional value of cardiac magnetic resonance (CMR) in the assessment of left ventricular (LV) dilatation and dysfunction by comparison to standard echocardiography in patients with chronic left-sided valvular regurgitation.

Materials And Methods: We prospectively enrolled patients with chronic severe mitral regurgitation (MR) or aortic regurgitation (AR). They underwent standard echocardiography and CMR using aortic flow and LV-function sequences.

Functional tricuspid regurgitation of degenerative mitral valve disease: a crucial determinant of survival.

Aims: To assess functional tricuspid regurgitation (FTR) determinants, consequences, and independent impact on outcome in degenerative mitral regurgitation (DMR).

Methods And Results: All patients diagnosed with isolated DMR 2003-2011, with structurally normal tricuspid leaflets, prospective FTR grading and systolic pulmonary artery pressure (sPAP) estimation by Doppler echocardiography at diagnosis were identified and long-term outcome analysed. The 5083 DMR eligible patients [63 ± 16 years, 47% female, ejection fraction (EF) 63 ± 7%, and sPAP 35 ± 13 mmHg] presented with FTR graded trivial in 45%, mild in 37%, moderate in 15%, and severe in 3%.

Piezo1 is required for outflow tract and aortic valve development.

Aims: During embryogenesis, the onset of circulatory blood flow generates a variety of hemodynamic forces which reciprocally induce changes in cardiovascular development and performance. It has been known for some time that these forces can be detected by as yet unknown mechanosensory systems which in turn promote cardiogenic events such as outflow tract and aortic valve development. PIEZO1 is a mechanosensitive ion channel present in endothelial cells where it serves to detect hemodynamic forces making it an ideal candidate to play a role during cardiac development.

Usefulness of 3-Tesla Cardiac Magnetic Resonance to Detect Mitral Annular Disjunction in Patients With Mitral Valve Prolapse.

Mitral annulus disjunction (MAD) is characterized by a separation between the atrial wall mitral junction and the left ventricular (LV) free wall. Little is known regarding cardiac magnetic resonance (CMR) performance to detect MAD and its prevalence in mitral valve prolapse (MVP). Based on 89 MVP patients (63 women; mean age 64 ± 13) referred for CMR assessment of MR, either from myxomatous mitral valve disease (MMVP) (n = 40; 45%) or fibroelastic disease (n = 49; 55%), we sought to assess the frequency of MAD and its consequences on LV morphology.

Prognostic Value of F-Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography in Infective Endocarditis.

Background: F-fluorodeoxyglucose positron emission tomography/computed tomography (F-FDG PET/CT) is commonly used for the diagnosis of infective endocarditis (IE), but its prognostic value remains unknown.

Objectives: This study sought to assess the prognostic value of F-FDG PET/CT in prosthetic valve endocarditis (PVE) and native valve endocarditis (NVE).

Methods: This study prospectively included 173 consecutive patients (109 PVE and 64 NVE) with definite left-sided IE who had an F-FDG PET/CT and were followed-up for 1 year.

Long-Term Implications of Atrial Fibrillation in Patients With Degenerative Mitral Regurgitation.

Background: Scientific guidelines consider atrial fibrillation (AF) complicating degenerative mitral regurgitation (DMR) a debated indication for surgery.

Objectives: This study analyzed the prognostic/therapeutic implications of AF at DMR diagnosis and long-term.

Methods: Patients were enrolled in the MIDA (Mitral Regurgitation International Database) registry, which reported the consecutive, multicenter, international experience with DMR due to flail leaflets echocardiographically diagnosed.

Long-term results of surgical treatment of secondary severe mitral regurgitation in patients with end-stage heart failure: Advantage of prosthesis insertion.

Background: Surgical treatment of secondary mitral regurgitation (SMR) is controversial.

Aim: To analyse outcome after undersizing annuloplasty (UA) and mitral valve replacement (MVR).

Methods: Consecutive patients operated on for severe SMR, with left ventricular ejection fraction (LVEF)<40% and refractory CHF, were included.