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.

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.

MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.

MYBPC3 pathogenic variants are the most common cause of hypertrophic cardiomyopathy (HCM) and are associated with significant phenotypic heterogeneity. Despite their pathogenic potential, MYBPC3 founder variants persist within specific populations. This study investigates the MYBPC3 c.

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.

The Diagnostic and Prognostic Value of the 12-Lead ECG in Arrhythmogenic Left Ventricular Cardiomyopathy.

Background: Electrocardiographic findings in arrhythmogenic left ventricular cardiomyopathy (ALVC) have been limited to small studies.

Objectives: The authors aimed to analyze the electrocardiogram (ECG) characteristics of ALVC, to correlate ECG with cardiac magnetic resonance and genetic data, and to evaluate its prognostic value.

Methods: We reviewed data of 125 consecutive patients with ALVC (81.

Monitoring the Effects of Cardiac Rehabilitation Programs in Heart Failure Patients: The Role of Biomarkers.

Heart failure (HF) is characterized by poor exercise tolerance and reduced ability to perform routine daily activities. Cardiac rehabilitation (CR), which includes exercise training, has shown a role in improving cardiac remodeling, functional capacity and HF outcomes as a consequence of its beneficial effects on neurohormonal dysfunction, endothelial function, vascular tone and peripheral oxygen extraction. Although a multiparametric evaluation, including physical examination, blood sampling, echocardiographic and cardiopulmonary exercise testing parameters, is routinely performed during CR programs, the use of cardiac biomarkers, in particular natriuretic peptides (NPs), is still poorly adopted and characterized.

Cardiological Manifestations in Males and Females Affected by NAA10 -Related Disease.

We report a family with two affected brothers presenting hypertrophic cardiomyopathy, prolonged QT interval, and intellectual disability who, after a dozen years of inconclusive genetic testing, were found to share a previously undescribed variant c.549delA (p.Gly184Alafs*67) in the X-linked NAA10 gene.

Arrhythmic Stratification of Cardiac Amyloidosis: State of the Art.

Cardiac amyloidosis is an infiltrative myocardial disease whose prevalence significantly increased in recent years. Its clinical history is changing due to the advent of novel therapies, and careful risk stratification has become impelling. Arrhythmias, frequently found during the course of the disease, include conduction system disease, atrial fibrillation (AF), and ventricular arrhythmias (VAs).

Critical approach to the 2023 European Society of Cardiology guidelines on cardiomyopathies: a document by the Working Group on Myocardial and Pericardial Diseases of the Italian Society of Cardiology.

Last year, the European Society of Cardiology (ESC) published the first guidelines to comprehensively address the management of cardiomyopathies. This document by the Working Group on Myocardial and Pericardial Diseases of the Italian Society of Cardiology aims at highlighting the most relevant messages and novelties introduced by these guidelines for the management of patients affected by cardiomyopathies. Five main messages are summarized: the key role of the phenotype, the new classification of cardiomyopathies provided in the ESC guidelines, the importance given to new techniques such as cardiac magnetic resonance (CMR) and genetic testing, the newly provided recommendations given on sport activities and finally how the importance of follow-up evaluations is highlighted.

Update on the diagnosis and treatment of pericardial diseases: a position paper of the Italian Society of Cardiology in collaboration with the study group on cardiomyopathies and pericardial diseases.

The knowledge of pericardial diseases has now improved, including prospective and retrospective cohort studies focusing on the pathogenesis, diagnosis, treatment, and outcomes. The complex interplay between genetic predisposition (especially for autoinflammatory conditions), inflammation, and autoimmunity is now known to trigger recurrences of pericarditis. Moreover, diagnostic capabilities have improved with the implementation of multimodality imaging, particularly cardiac magnetic resonance (CMR), to detect and monitor pericardial inflammation, to allow diagnosis in more complicated cases, and tailor the duration of therapy based on objective parameters.

Arrhythmic risk stratification in patients with left ventricular ring-like scar.

Aims: Left ventricular (LV) ring-like scar on cardiac magnetic resonance (CMR) has been linked to malignant arrhythmias in patients with non-ischaemic cardiomyopathy. This study aimed to perform a comprehensive evaluation of this phenotype and to identify risk factors for life-threatening arrhythmic events (LAEs), a composite of sudden cardiac death (SCD), aborted SCD, and sustained ventricular tachycardia.

Methods And Results: One hundred and fifteen patients [median age 39 (interquartile range, IQR, 28-52), 42% females] were identified at 6 referral centres.

Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic Variants in an Italian Cohort.

Hypertrophic cardiomyopathy (HCM) is a genetic cardiac muscle disease characterized by clinical and genetic heterogeneity. Genetic testing can reveal the presence of disease-causing variants in genes encoding sarcomere proteins. However, it yields inconclusive or negative results in 40-60% of HCM cases, owing to, among other causes, technical limitations such as the inability to detect pathogenic intronic variants.

Impact of the Noninvasive Diagnostic Algorithm on Clinical Presentation and Prognosis in Cardiac Amyloidosis.

Background: The introduction of a noninvasive diagnostic algorithm in 2016 led to increased awareness and recognition of cardiac amyloidosis (CA).

Objectives: The purpose of this study was to analyze the impact of the introduction of the noninvasive diagnostic algorithm on diagnosis and prognosis in a multicenter Italian CA cohort.

Methods: This was a retrospective analysis of 887 CA patients from 5 Italian Cardiomyopathies Referral Centers: 311 light-chain CA, 87 variant transthyretin (TTR)-related CA, 489 wild-type TTR-related CA.

Role of advanced CMR features in identifying a positive genotype of hypertrophic cardiomyopathy.

Background: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. Cardiac magnetic resonance (CMR) imaging has emerged as a powerful tool for the non-invasive assessment of HCM. CMR can accurately quantify the extent and distribution of hypertrophy, assess the presence and severity of myocardial fibrosis, and detect associated abnormalities.

Position Statement of the Italian Society of Cardiovascular Prevention (SIPREC) and Italian Heart Failure Association (ITAHFA) on Cardiac Rehabilitation and Protection Programs as a Cornerstone of Secondary Prevention after Myocardial Infarction or Revascularization.

Despite the remarkable and progressive advances made in the prevention and management of cardiovascular diseases, the recurrence of cardiovascular events remains unacceptably elevated with a notable size of the residual risk. Indeed, in patients who suffered from myocardial infarction or who underwent percutaneous or surgical myocardial revascularization, life-style changes and optimized pharmacological therapy with antiplatelet drugs, lipid lowering agents, beta-blockers, renin angiotensin system inhibitors and antidiabetic drugs, when appropriate, are systematically prescribed but they might be insufficient to protect from further events. In such a context, an increasing body of evidence supports the benefits of cardiac rehabilitation (CR) in the setting of secondary cardiovascular prevention, consisting in the reduction of myocardial oxygen demands, in the inhibition of atherosclerotic plaque progression and in an improvement of exercise performance, quality of life and survival.

Transcatheter Ablation of Atrial Fibrillation in Patients With Hypertrophic Cardiomyopathy: A Multicenter Propensity Score-Based Analysis.

Background: The prognostic impact of catheter ablation (CA) of atrial fibrillation (AF) in hypertrophic cardiomyopathy (HCM) patients has not yet been satisfactorily elucidated.

Objectives: The aim of the study was to assess the impact of CA of AF on clinical outcomes in a large cohort of HCM patients.

Methods: In this retrospective multicenter study, 555 HCM patients with AF were enrolled, 140 undergoing CA and 415 receiving medical therapy.

Clinical characteristics and outcome of end stage hypertrophic cardiomyopathy: Role of age and heart failure phenotypes.

Background: A minority of patients with hypertrophic cardiomyopathy (HCM) presents advanced heart failure (HF) during their clinical course, in the context of left ventricular (LV) remodeling with reduced LV ejection fraction (LVEF), or of severe diastolic dysfunction without impaired LVEF. Aim of this study was to describe a multicentric end stage (ES) HCM population and analyze clinical course and outcome among its different phenotypes.

Methods: Data of all HCM patients from 7 Italian referral centres were retrospectively evaluated.

Real-world candidacy to mavacamten in a contemporary hypertrophic obstructive cardiomyopathy population.

Aims: In the EXPLORER-HCM trial, mavacamten reduced left ventricular outflow tract obstruction (LVOTO) and improved functional capacity of symptomatic hypertrophic obstructive cardiomyopathy (HOCM) patients. We sought to define the potential use of mavacamten by comparing real-world HOCM patients with those enrolled in EXPLORER-HCM and assessing their eligibility to treatment.

Methods And Results: We collected information on HOCM patients followed up at 25 Italian HCM outpatient clinics and with significant LVOTO (i.

The Diagnostic Value of the 12-Lead ECG in Arrhythmogenic Left Ventricular Cardiomyopathy: Novel ECG Signs.

Background: Electrocardiographic (ECG) findings in arrhythmogenic left ventricular cardiomyopathy (ALVC) are limited to small case series.

Objectives: This study aimed to analyze the ECG characteristics of ALVC patients and to correlate ECG with cardiac magnetic resonance and genotype data.

Methods: We reviewed data of 54 consecutive ALVC patients (32 men, age 39 ± 15 years) and compared them with 84 healthy controls with normal cardiac magnetic resonance.

Clinical course of hypertrophic cardiomyopathy patients implanted with a transvenous or subcutaneous defibrillator.

Aims: The implantable cardioverter-defibrillator (ICD) is a life-saving therapy in patients with hypertrophic cardiomyopathy (HCM) at risk of sudden cardiac death. Implantable cardioverter-defibrillator complications are of concern. The subcutaneous ICD (S-ICD) does not use transvenous leads and is expected to reduce complications.

Electrocardiographic heterogeneity of patients with variant transthyretin amyloid cardiomyopathy: Genotype-phenotype correlations.

Backgorund: Hereditary transthyretin(vATTR) cardiac amyloidosis has extremely different features according to the type of transthyretin(TTR) mutation. Data about electrocardiographic findings(ECG) in vATTR are limited and not informative of genotype correlation. Aim of this study is to analyze ECG characteristics and their correlation to clinical and echocardiographic aspects in patients with vATTR, focusing on different TTR mutations.

The role of genetic testing in suspected fulminant myocarditis: A case report.

ACM is a rare hereditary heart disease characterized by a progressive fibro-fatty replacement of the myocardium that can affect either the right or the left ventricle or both. It is mainly caused by variants in the desmosome genes with autosomal dominant transmission and incomplete penetrance. The disease shows a wide spectrum of clinical manifestations, including ventricular arrhythmias, HF and myocarditis.

From the phenotype to precision medicine: an update on the cardiomyopathies diagnostic workflow.

Cardiomyopathies are disease of the cardiac muscle largely due to genetic alterations of proteins with 'structural' or 'functional' roles within the cardiomyocyte, going from the regulation of contraction-relaxation, metabolic and energetic processes to ionic fluxes. Modifications occurring to these proteins are responsible, in the vast majority of cases, for the phenotypic manifestations of the disease, including hypertrophic, dilated, arrhythmogenic and restrictive cardiomyopathies. Secondary nonhereditary causes to be excluded include infections, toxicity from drugs or alcohol or medications, hormonal imbalance and so on.

Old and new therapeutic solutions in the treatment of hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is a genetic disease of the myocardium that is relatively common in the general population, with an autosomal dominant inheritance as a genetic basis. Clinical and natural history pathways can be very different among patients with HCM. Treatment strategies have made very important advances in the last two decades, especially reducing cases of sudden death through effective risk stratification and the use of implantable defibrillators.