[State of the art and projects of the Italian Fabry Disease Cardiovascular Registry].

Anderson-Fabry disease is a panethnic, rare disease caused by α-galactosidase A deficiency, with subsequent systemic intracellular accumulation of glycosphingolipids. Confined as a nephrological disease for many decades, the widespread use of multimodality imaging techniques over the last 20 years (like cardiac magnetic resonance) has allowed to highlight the frequent and heterogeneous cardiovascular involvement, with important impact on therapeutic strategies and prognosis. However, many grey zones and knowledge gaps remain, both in diagnostic and management approaches.

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.

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.

Diagnostic delay in rare diseases in the Campania region: addressing ageing, gender disparities, and the "postcode lottery effect" to reduce the patient odyssey.

Our study assessed the time to diagnosis of rare diseases (RDs) in Campania and whether there are determinants of diagnostic delay (DD). Demographic characteristics, date of first medical contact and diagnosis, disease macro-groups, and area of residence of patients were recorded. DD was calculated as the time elapsed (in years) from the onset of symptoms to the RD diagnosis date.

[Rare Diseases and epidemiology: an overlook at data from the Campania Region Rare Disease Registry (Southern Italy)].

Objectives: to provide the epidemiological framework of those affected by rare diseases resident in the Campania Region (Southern Italy), using the data entered in the Campania Region Rare Disease Registry, acquiring information potentially useful for regional planning.

Design: observational retrospective cohort study on patients with rare diseases included in the Regione Campania Rare Disease Registry from 01.01.

Tailored therapeutics for cardiomyopathies.

The term cardiomyopathy is used to describe a large family of complex heart muscle disorders of diverse aetiology and pathophysiology. For decades, the management of individual cardiomyopathy subtypes has focused primarily on the management of symptoms and the prevention of disease-related complications, such as heart failure and sudden cardiac death. Treatment of progressive myocardial dysfunction has relied on conventional evidence-based heart failure therapies, with variable success.

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.

Evolution of Cardiac Damage Staged With Echocardiography in Fabry Disease.

Background: Fabry disease can be classified in 4 stages based on the extent of cardiac damage assessed with echocardiography. This staging is strongly associated with prognosis, with a doubled risk increase of cardiovascular events for each stage progression. The aims of the present study were to investigate the evolution of cardiac damage using this staging system during midterm follow-up and to identify predictors of stage worsening.

NAXCARE: a clinical outcome registry for Naxos disease and related cardiocutaneous syndromes.

The NAXCARE (NAXos disease and Cardiocutaneous Assessment and Registry for Evaluation) is a global initiative designed to collect, store, and analyze clinical outcomes data on patients with Naxos disease and related cardiocutaneous syndromes (CCS). This registry aims to fill the gaps in clinical knowledge, enhance treatment approaches, and improve patient outcomes by systematically documenting disease progression, genetic profiles, and patient care pathways. The following methodology outlines the registry's design, data collection protocols, management, security measures, and anticipated contributions to research and clinical practice.

Electrocardiogram evolution in Anderson-Fabry disease patients during follow-up in relation to specific treatment and cardiac disease progression.

Aims: Electrocardiogram (ECG) analysis plays a central role in Anderson-Fabry disease (AFD) diagnosis and management. This study aimed to assess ECG evolution during follow-up in relation to specific treatment and disease progression.

Methods: Retrospective study of a multicentric cohort of AFD patients with ≥2 ECG and echocardiographic data.

Advances in the Therapy of Light Chain Cardiac Amyloidosis.

Systemic light chain (AL) amyloidosis stems from abnormal production of amyloidogenic immunoglobulin light chains by plasma cells or B-cell disorders. It can present locally or systemically, with systemic forms posing significant mortality risks, especially if cardiac involvement is present. Delayed diagnosis due to nonspecific symptoms leads to progressive organ dysfunction.

Hypertrophic cardiomyopathy: prevalence of disease-specific red flags.

Background And Aims: The European Society of Cardiology guidelines recommend a systematic search for diagnostic clues or 'red flags' (RFs) in patients with hypertrophic cardiomyopathy (HCM) to better tailor disease management. To date, the prevalence and clinical significance of RF associated with HCM phenotypes in different clinical settings are unknown.

Methods: The study cohort comprised 818 patients with a clinical diagnosis of HCM [479 (62%) males, mean age 49 ± 21 years] referred to four European centres.

Naxos Disease and Related Cardio-Cutaneous Syndromes.

Naxos disease is a rare autosomal recessive condition combining arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma. The first identified causative variant was in the gene encoding the desmosomal protein plakoglobin. Naxos disease exhibits fibro-fatty myocardial replacement with immunohistological abnormalities in cardiac protein and signaling pathways, highlighting the role of inflammation and potential anti-inflammatory treatments.

The Prognostic Role of Pulmonary Arterial Elastance in Patients Undergoing Left Ventricular Assist Device Implantation: A Pilot Study.

: Pulmonary arterial elastance (Ea) is a helpful parameter to predict the risk of acute postoperative right ventricular failure (RVF) after left ventricular assist device (LVAD) implantation. A new method for calculating Ea, obtained by the ratio between transpulmonary gradient and stroke volume (Ea), has been proposed as a more accurate measure than the Ea obtained as the ratio between pulmonary artery systolic pressure and stroke volume (Ea). However, the role of Ea in predicting acute RVF post-LVAD implantation remains unclear.

Aortic Dimension in Elite Athletes: Updated Systematic Review and Meta-Analysis.

Aims: To assess the presence and the extent of an "aortic remodeling" in elite athletes.

Methods: A systematic review and meta-analysis of literature were conducted for studies (1981-2024) reporting echocardiographic aortic diameters of elite athletes compared to non-athlete healthy controls. Among the 5,494 studies retrieved, 21 (9,464 elite athletes vs.

RETRACTED: Monda et al. Left Ventricular Non-Compaction in Children: Aetiology and Diagnostic Criteria. 2024, , 115.

The journal retracts the article, titled "Left Ventricular Non-Compaction in Children: Aetiology and Diagnostic Criteria" [...

Resistive index of central retinal artery, aortic arterial stiffness and OCTA correlated parameters in the early stage of fabry disease.

This study aimed to evaluate the impact of Fabry disease (FD) on retinal microvasculature using optical coherence tomography angiography (OCTA), arterial stiffness, and the resistive index (RI) of the central retinal artery (CRA) in early disease stages. Twenty-nine genetically confirmed FD patients and twenty-six healthy controls were enrolled. Vessel density (VD) values of the superficial, deep, and choriocapillaris plexuses (SCP, DCP, and CC) were measured via OCTA.