Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype-Phenotype Correlation and Consequences in Genetic Counseling.

Titin truncating variants (TTNtv) are the main genetic cause of dilated cardiomyopathies (DCMs). The phenotype and prognosis of probands have been evaluated in several large cohorts. However, few data are available on intrafamilial expressivity.

Comparative Influences of Beta blockers and Verapamil on Cardiac Outcomes in Hypertrophic Cardiomyopathy.

Guidelines recommend β blockers (BBs) as first-line therapy in symptomatic patients with hypertrophic cardiomyopathy (HCM) and nondihydropyridine calcium channel blockers, particularly, verapamil, as the second-line therapy, despite the absence of comparison trials between those 2 drugs. Because deleterious effects of verapamil have been reported in this setting, the present analysis aimed to evaluate the prognostic impact of BBs and verapamil in a cohort of patients with HCM. From a nationwide cohort of 1,434 patients with a diagnosis of HCM included in the French prospective observational REgistry of hypertrophic cardioMYopathy (REMY), we retrospectively analyzed patients with sarcomeric HCM included in the 3 largest centers and treated either with BBs or verapamil.

Clinical outcomes for 2788 patients with transthyretin amyloidosis: Tafamidis meglumine early access program in France.

Background: Early access experience in France with tafamidis meglumine, a selective transthyretin stabilizer for transthyretin-related amyloidosis cardiomyopathy (ATTR-CM), following transthyretin-related amyloidosis (ATTR) polyneuropathy approval and positive ATTR-ACT study results.

Aim: To describe the characteristics and clinical outcomes for patients in the French ATTR-CM tafamidis meglumine early access programme (28 Nov 2018 to 01 Jun 2021).

Methods: Patients with confirmed ATTR-CM received tafamidis meglumine 20mg/day or 80mg/day.

Hypersynchrony in sarcomeric hypertrophic cardiomyopathy: description and mechanistic approach using multimodal electro-mechanical non-invasive cartography (HSYNC study).

Background: Little is known about left ventricular (LV) sequences of contraction and electrical activation in hypertrophic cardiomyopathy (HCM). A better understanding of the underlying relation between mechanical and electrical activation may allow the identification of predictive response criteria to right ventricular DDD pacing in obstructive patients.

Objective: To describe LV mechanical and electrical activation sequences in HCM patients compared to controls.

Target population for a selective cardiac myosin inhibitor in hypertrophic obstructive cardiomyopathy: Real-life estimation from the French register of hypertrophic cardiomyopathy (REMY).

Background: The efficacy of current pharmacological therapies in hypertrophic cardiomyopathy is limited. A cardiac myosin inhibitor, mavacamten, has recently been approved as a first-in-class treatment for symptomatic hypertrophic obstructive cardiomyopathy.

Aims: To assess the profile and burden of cardiac myosin inhibitor candidates in the hypertrophic cardiomyopathy prospective Register of hypertrophic cardiomyopathy (REMY) held by the French Society of Cardiology.

Venous dysfunction in obstructive hypertrophic cardiomyopathies: Results from the "HCM-Vein" pilot study.

Background: Hypertrophic cardiomyopathies (HCM) can be complicated by left ventricular outflow-tract obstruction (LVOTO) responsible for disabling exercise symptoms, a phenomenon influenced by hemodynamic factors including venous return.

Methods: We aimed to evaluate venous dysfunction in obstructive HCM patients compared to healthy controls, and to investigate the relationship between venous dysfunction parameters and LVOTO in HCM. This is a clinical, monocentric, prospective, pilot study, in a tertiary care center.

Abnormal Cellular Phenotypes Induced by Three /LAP2 Variants Identified in Men with Cardiomyopathies.

A single missense variant of the /LAP2α gene, encoding LAP2 proteins, has been associated with cardiomyopathy in two brothers. To further evaluate its role in cardiac muscle, we included in our cardiomyopathy diagnostic gene panel. A screening of ~5000 patients revealed three novel rare heterozygous variants in six males diagnosed with hypertrophic or dilated cardiomypathy.

Comparison of Surgical Ventricular Septal Reduction to Alcohol Septal Ablation Therapy in Patients with Hypertrophic Cardiomyopathy.

Ventricular septal myectomy (SM) and alcohol septal ablation (ASA), 2 septal reduction therapies (SRTs), are recommended in symptomatic obstructive hypertrophic cardiomyopathy (HCM) despite maximum tolerated medical therapy. Contradictory results between the outcomes of these 2 types of therapies persist to this day. The objective of this study was to compare in-hospital and mid-term outcomes of SM versus ASA, at a nationwide level in France.

Hypertrophic cardiomyopathies requiring more monitoring for less atrial fibrillation-related complications: a clustering analysis based on the French registry on hypertrophic cardiomyopathy (REMY).

Aims: Defining the risk of atrial fibrillation (AF) in hypertrophic cardiomyopathy (HCM) patients is an important clinical and prognostic challenge. The aim of this study is to determine HCM phenogroups with different risk of AF occurrence at 5 years.

Methods And Results: We applied retrospectively the Bayesian method, which can analyze a large number of variables, to differentiate phenogroups of patients with different risks of AF and prognoses across a French prospective on-going hospital-based registry of adult HCM patients (REMY).

Eclipsed Functional Mitral Regurgitation Destabilizing Hypertrophic Cardiomyopathy: An Unusual Case Treated With MitraClip.

MitraClip (Abbott Laboratories, Abbott Park, IL) is validated in high-risk patients with severe degenerative mitral regurgitation (MR); however, it is not well established for functional MR in hypertrophic cardiomyopathy (HCM). We share a case of a 68-year-old man with HCM hospitalized for multiple incidents of acute pulmonary edema caused by a dynamic MR and successfully treated with the MitraClip device. Novel teaching points emerging from this case are that MRs in HCM can often be explained by mixed mechanisms, and properly identifying the MR mechanism is essential to choose optimal treatment.

Relationships between left ventricular mass and QRS duration in diverse types of left ventricular hypertrophy.

Aims: Hypertrophic cardiomyopathy (HCM) may be associated with very narrow QRS, while left ventricular hypertrophy (LVH) may increase QRS duration. We investigated the relationships between QRS duration and LV mass (LVM) in subtypes of abnormal LV wall thickness.

Methods And Results: Automated measurement of LVM on MRI was correlated to automated measurement of QRS duration on ECG in HCM, left ventricular non compaction (LVNC), left ventricular hypertrophy (LVH), and controls with healthy hearts.

Management and outcomes of hypertrophic cardiomyopathy in young adults.

Background: Management of young adults with hypertrophic cardiomyopathy (HCM) is challenging.

Aims: To evaluate the profile of young adults (16-25 years) with HCM included in the French prospective HCM registry.

Methods: Patients were compared according to occurrence of major adverse cardiac events (MACE), comprising sudden cardiac death (SCD) events (implantable cardioverter defibrillator [ICD] discharge, SCD, sustained ventricular tachycardia), atrial fibrillation/embolic stroke, heart failure hospitalisation and unexplained syncope, at a mean follow-up of 4.

The value of electrocardiography and echocardiography in distinguishing Fabry disease from sarcomeric hypertrophic cardiomyopathy.

Background: Screening for Fabry disease is sub-optimal in non-specialised centres.

Aim: To assess the diagnostic value of electrocardiographic scores of left ventricular hypertrophy and a combined electrocardiographic and echocardiographic model in Fabry disease.

Methods: We retrospectively reviewed the electrocardiograms and echocardiograms of 61 patients (mean age 55.

Characterization of Fabry Disease cardiac involvement according to longitudinal strain, cardiometabolic exercise test, and T1 mapping.

In Anderson-Fabry disease (FD), we sought to evaluate relation between left ventricular (LV) hypertrophy, longitudinal strain (LS), myocardial T1 mapping and cardiopulmonary exercise parameters, and their prognostic value in term of cardiovascular outcomes. In this prospective, observational, monocentric study called "FABRY-Image", we evaluated consecutive adult FD patients by echocardiography, cardiac magnetic resonance, and cardiopulmonary exercise testing. We investigated regional LS, the relations between LV hypertrophy, LS, T1 mapping, and VO2 peak and VE/VCO2, and the prediction of cardiovascular events during follow-up.

Left-ventricular non-compaction-comparison between different techniques of quantification of trabeculations: Should the diagnostic thresholds be modified?

Background: Diagnosis of left ventricular non-compaction (LVNC) is challenging, and different imaging techniques propose different criteria.

Aim: To compare the value of two-dimensional transthoracic echocardiography (2D-TTE) and cardiac magnetic resonance (CMR) criteria in diagnosing LVNC, and to test a new trabecular quantification method obtained by 2D-TTE, exploring its relationship with CMR non-compacted mass quantification.

Methods: From a multicentre French study, we selected 48 patients with LVNC and 20 with dilated cardiomyopathy (DCM) who underwent 2D-TTE and CMR.

Role of multimodality imaging in the diagnosis and management of cardiomyopathies.

Multimodality imaging plays an important role in the initial evaluation, diagnosis and management of patients suspected of having a cardiomyopathy. Beyond functional and anatomical information, multimodality imaging provides important variables that facilitate risk stratification and prognosis evaluation. Whatever the underlying suspected cardiomyopathy, echocardiography is the most common initial imaging test used to establish the presence of cardiomyopathy, by depicting structural and functional abnormalities.

Prognostic value of the 12-lead surface electrocardiogram in sarcomeric hypertrophic cardiomyopathy: data from the REMY French register.

Aims: To identify independent electrocardiogram (ECG) predictors of long-term clinical outcome based on standardized analysis of the surface ECG in a large multicentre cohort of patients with sarcomeric hypertrophic cardiomyopathy (HCM).

Methods And Results: Retrospective observational study from the REMY French HCM clinical research observatory. Primary endpoint was a composite of all-cause mortality, major non-fatal arrhythmic events, hospitalization for heart failure (HF), and stroke.

Global and regional echocardiographic strain to assess the early phase of hypertrophic cardiomyopathy due to sarcomeric mutations.

Aims: Hypertrophic cardiomyopathy (HCM) is a genetic disease with delayed cardiac expression. Our objective was to characterize left ventricular (LV) myocardial strain by two-dimensional echocardiography in sarcomeric mutation carriers before the hypertrophic stage.

Methods And Results: We studied 140 adults [derivation cohort (n = 79), validation cohort (n = 61)].

Fabry disease in cardiology practice: Literature review and expert point of view.

Fabry disease is an X-linked progressive multisystemic genetic sphingolipidosis caused by deficient activity of lysosomal α-galactosidase A. Men aged>30 years and women aged>40 years most often present with unexplained left ventricular hypertrophy, usually concentric and non-obstructive, but sometimes mimicking sarcomeric hypertrophic cardiomyopathy, particularly when isolated, as in the cardiac or late-onset variant of the disease. In hypertrophic cardiomyopathy cohorts, up to 1% of patients have been diagnosed with Fabry disease.