Prognostic role of exercise intensity in familial Filamin C truncating variants.

Background: Truncating variants in the Filamin C () gene are causative of highly arrhythmogenic cardiomyopathies. Guidelines remain controversial concerning competitive and high-intensity sports for carriers. Indeed, the impact of high-intensity exercise on individuals carrying these variants remains poorly understood.

Prognostic Role of Myocarditis-Like Episodes and Their Treatment in Patients With Pathogenic Desmoplakin Variants.

Background: Inflammatory, myocarditis-like episodes precede and are associated with higher risk of sustained ventricular arrhythmias and heart failure in patients with pathogenic or likely pathogenic desmoplakin (DSP) variants. Whether the recurrence and treatment of myocarditis-like episodes influence the outcomes in this population is unknown. This study aimed to assess the prognostic impact of the recurrence and treatment of myocarditis-like episodes in patients with pathogenic or likely pathogenic DSP variants.

Clustering in dilated cardiomyopathy at initial evaluation: An effective tool for clinical stratification.

Aims: Dilated cardiomyopathy (DCM) has a highly variable presentation and disease course. Current stratification strategies are complex and require multimodality evaluation. Using machine learning (ML) on a large dataset obtained at first cardiological evaluation, this study aims to identify specific DCM subgroups.

Titin-related familial dilated cardiomyopathy: factors associated with disease onset.

Background And Aims: Truncating variants in the TTN gene (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM) but also occur as incidental findings in the general population. This study investigated factors associated with the clinical manifestation of TTNtv.

Methods: An international multicentre retrospective observational study was performed in families with TTNtv-related DCM.

Cardiopulmonary exercise testing in hypertrophic cardiomyopathy: the role of reduced O2 pulse and chronotropic incompetence in myocardial adaptation.

Aims: Hypertrophic cardiomyopathy (HCM) is associated with functional limitations during exercise. We aimed to evaluate oxygen pulse (O2p) as a stroke volume (SV) surrogate and to propose a new HCM classification (RoMa) based on haemodynamic profiles during exercise: predicted peak O2p (O2pp) and peak heart rate (HRpp).

Methods And Results: This multicentre, prospective study included 90 clinically stable HCM patients who underwent cardiopulmonary exercise testing with simultaneous impedance cardiography (PhysioFlow®).

The contribution of truncating variants to human cardiomyopathy.

Background: Genetic diagnosis has become increasingly important to guide clinical decision making for patients with dilated cardiomyopathy (DCM). Disease-causing (P/LP) missense variants in the gene cause a highly penetrant arrhythmogenic dilated cardiomyopathy (DCM), but the role of truncating variants ( ) is unclear.

Objective: Assess the contribution of to DCM.

Pregnancy in patients with inherited myocardial disorders - A consensus document on preconception counseling and pregnancy management by the working group on myocardial and pericardial disorders of the Italian Society of Cardiology.

Cardiomyopathies are inherited cardiac disorders characterized by increased risk of heart failure and life-threatening arrhythmias leading to sudden cardiac death. The comprehension of the genetic foundation and the accessibility of genetic testing have significantly enhanced the identification of patients harbouring mutations linked to cardiomyopathy, even in the absence of a distinct phenotype, facilitating early diagnosis. However, the diagnosis at a young age carries the intrinsic problem of the possible disease transmission.

Genetic and Phenotypic Characterization of Nexilin (NEXN)-Related Cardiomyopathy: Results From a Multicentric Study.

Background: Nexilin (NEXN)-related cardiomyopathies (CMPs) are largely unexplored.

Objectives: This study investigated the causative role of NEXN in CMPs, examining its phenotypic expression and prognostic profile.

Methods: Twelve referral centers collected phenotypic/genotypic data of patients with NEXN variants.

Major arrhythmias in non-dilated left ventricular cardiomyopathy: a novel prediction score.

Background And Aims: The prediction of the first major arrhythmic event (MAE) is still an unmet need in the recently defined scenario of non-dilated left ventricular cardiomyopathy (NDLVC).

Methods: A cohort of 337 patients with NDLVC and no history of MAE was retrospectively identified at two large centres. Patient-tailored diagnostic workup included cardiac magnetic resonance (CMR), endomyocardial biopsy, and genetic testing.

Diagnostic Criteria and Disease Staging for Desmoplakin Cardiomyopathy.

Background: Desmoplakin (DSP) cardiomyopathy, caused by variants in the gene , is a unique subtype of cardiomyopathy distinct from typical dilated or arrhythmogenic right ventricular cardiomyopathies. Specific diagnostic and disease staging criteria have yet to be developed for DSP cardiomyopathy.

Objective: Utilizing a large cohort of DSP cardiomyopathy patients and their genotype-positive family members, this study aims to develop diagnostic and disease staging criteria for DSP cardiomyopathy.

Current Management of Transition and Multidisciplinary Care of Patients with Inherited and Rare Cardiomyopathies in Europe: Results of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD-HEART).

Background And Aims: Cardiomyopathies are a heterogeneous group of genetic disorders requiring specialised, multidisciplinary management to optimize patient outcomes. A critical aspect of care is the transition of paediatric patients to adult services, which varies significantly across healthcare systems.This study assessed current practices in care transition and multidisciplinary management of inherited and rare cardiomyopathies across specialised European centres within the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) network.

Implications of obesity on clinical outcomes in acute decompensated heart failure across the left ventricular ejection fraction spectrum and right ventricular dysfunction.

Aims: The implications of obesity on phenotype presentation and outcomes in acute decompensated heart failure (ADHF) are relatively unexplored. The aim of this study was to investigate the characteristics and prognostic implications related to obesity in ADHF, according to left ventricular and right ventricular function.

Methods: Consecutive patients hospitalized for ADHF were retrospectively enrolled.

Genetic testing in cardiomyopathies: updates and future perspectives.

Cardiomyopathies are a heterogeneous group of cardiac disorders with significant morbidity and mortality that often manifest as heart failure or sudden cardiac death. Although these conditions can be influenced by environmental factors, genetic causes play a critical role, with both Mendelian and non-Mendelian inheritance patterns contributing to their development. Advances in genetic testing have transformed clinical practice, offering new opportunities for diagnostic and prognostic characterization of cardiomyopathies, and supporting personalized interventions based on genetic profiles.

Myosin-ATPase inhibitor in real-world patients with obstructive HCM: a report by the Cardiomyopathies and Pericardial Diseases WG of the Italian Society of Cardiology.

Introduction: Approximately two-thirds of patients suffering from hypertrophic cardiomyopathy present with an obstructive (HOCM) physiology. For years, medical therapy has been limited to beta blockers, verapamil and/or disopyramide. Recently, a novel class of drugs, the allosteric inhibitors of the cardiac-specific myosin head adenosine triphosphatase (ATPase), have been demonstrated to be effective in relieving the dynamic obstruction and related clinical condition.

Significance of common genetic variants associated with non-ischaemic cardiomyopathy in the general population.

Aims: Common genetic variants have been linked to an increased risk of non-ischaemic cardiomyopathy (NICM). The primary objective of this study was to evaluate the significance of these variants in a general population.

Methods And Results: Thirteen NICM risk alleles, previously validated by meta-analyses of case-control genetic association studies, were used to determine genetic risk (GR) in a large, unselected cohort (n = 1897) of Olmsted County residents aged >45 years.

Gamma-glutamyltransferase independently predicts mortality and heart failure hospitalization in cardiac transthyretin amyloidosis.

Background: Transthyretin cardiac amyloidosis (ATTR-CA) is a leading cause of heart failure (HF). Although transthyretin is synthesized in the liver, overt liver disease is uncommon in ATTR-CA. We characterised hepatic involvement in patients with ATTR-CA, and identified the correlates and prognostic value of elevated gamma-glutamyl transferase (GGT), the most prominently deranged biomarker.

Cardiac transthyretin amyloidosis treatment improves outcomes after aortic valve replacement for severe stenosis.

Background And Aims: Concomitant aortic stenosis (AS) and transthyretin-associated cardiac amyloidosis (ATTR-CA) is an increasingly recognized cause of structural heart failure. Aortic valve replacement (AVR) improves prognosis in this population, but the efficacy of ATTR-specific medication remains unclear. This study aimed to investigate the prognostic implications of ATTR-specific medication in patients with dual AS-CA.

The American College of Cardology/American Heart Association Heart Failure Staging System Highlights Diagnostic Delay and Predicts Outcome in Transthyretin Cardiac Amyloidosis.

Objective: To apply the American College of Cardiology (ACC) and American Heart Association (AHA) heart failure (HF) staging system to patients with transthyretin cardiac amyloidosis (TTR-CA) in order to assess diagnostic delay and evaluate prognosis.

Patients And Methods: Consecutive patients with TTR-CA enrolled in an Italian registry were classified according to the ACC/AHA HF staging system at diagnosis. Outcome was assessed as all-cause mortality during a 3-year follow-up.

Change in prevalence of ATTR variants in Italy - Results from a National Survey.

Introduction: Hereditary transthyretin amyloidosis (ATTRv) is a rare, heterogenous, inherited disorder caused by over 130 gene mutations. Its prevalence was estimated to 4.33/million in 2020 in Italy.

Myopericardial complications following COVID-19 disease and vaccination: a clinical consensus statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases.

The aim of the present clinical consensus statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases is to review the current knowledge on the epidemiology, pathogenesis, diagnosis, therapy, and outcomes of myocardial and pericardial complications of coronavirus disease 2019 (COVID-19) and vaccination in order to improve the awareness and clinical confidence on the management of patients with these complications. The risk of myopericardial complications is especially higher within 1 month of COVID-19 disease and vaccination. Forms related to the disease are generally more common and severe than those related to vaccination.

High-Sensitivity Cardiac Troponin I for Risk Stratification in Wild-Type Transthyretin Amyloid Cardiomyopathy.

Background: Thresholds to define prognosis with hs-cTnI (high-sensitivity cardiac troponin I) have not been systematically addressed in wild-type transthyretin amyloid cardiomyopathy, in part because of the multiplicity of hs-cTnI assays. The aims of this study were: first, to assess the prognostic performance of hs-cTnI measured with different assays in patients with wild-type transthyretin amyloid cardiomyopathy and, second, to identify assay-specific hs-cTnI thresholds for prognosis that could be integrated into staging systems for risk stratification.

Methods: Observational multicenter study of stable wild-type transthyretin amyloid cardiomyopathy patients from different cohorts using the Abbott Architect Stat hs-cTnI assay and the Beckman Coulter Access hs-cTnI assay (testing cohorts) and the Siemens Centaur XPT hs-cTnI assay (validation cohort).