A5020439332- Cardiomyopathy and Myosin Studies
- Lysosomal Storage Disorders Research
- Cardiovascular Effects of Exercise
- Cardiovascular Function and Risk Factors
- Cardiac Structural Anomalies and Repair
- Cardiac electrophysiology and arrhythmias
- Cardiac Arrhythmias and Treatments
- Advanced MRI Techniques and Applications
- Cardiac Imaging and Diagnostics
- Trypanosoma species research and implications
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Parkinson's Disease Mechanisms and Treatments
- Cardiac Valve Diseases and Treatments
- Studies on Chitinases and Chitosanases
- Electrochemical sensors and biosensors
- Cellular transport and secretion
- Carbohydrate Chemistry and Synthesis
- RNA regulation and disease
- Cardiac pacing and defibrillation studies
- Cardiac Arrest and Resuscitation
- Parathyroid Disorders and Treatments
- Coronary Artery Anomalies
- Galectins and Cancer Biology
- Cardiovascular Syncope and Autonomic Disorders
- Cerebrovascular and genetic disorders
University of Bologna
2021-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2023-2024
Azienda USL di Bologna
2022-2024
Policlinico S.Orsola-Malpighi
2023-2024
ERN GUARD-Heart
2023-2024
Cardiomyopathies (CMPs) are myocardial diseases in which the heart muscle is structurally and functionally abnormal absence of coronary artery disease, hypertension, valvular disease congenital sufficient to cause observed abnormality. Thought for a long time be rare diseases, it now clear that most CMPs can easily clinical practice. However, there group specific nature whose clinical/echocardiographic phenotypes resemble those four classical morphological subgroups hypertrophic, dilated,...
Abstract Aims Hereditary transthyretin amyloidosis (ATTRv) is one of the leading aetiologies systemic with more than 135 mutations described and a broad spectrum clinical manifestations. We aimed to provide systematic description population individuals carrying pathogenic (TTR) gene investigate major events during follow-up. Methods results This was an observational, retrospective, cohort study including consecutive patients TTR gene, admitted tertiary referral centre in Bologna, Italy,...
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 potential use by comparing real‐world HOCM patients with those enrolled in assessing their eligibility treatment. Methods results collected information on followed up at 25 Italian HCM outpatient clinics significant LVOTO (i.e. gradient ≥30 mmHg rest or ≥50 after...
To describe a cohort of patients with arrhythmogenic left ventricular cardiomyopathy (ALVC), focusing on the spectrum clinical presentations.Patients were retrospectively evaluated between January 2012 and June 2020. Diagnosis was based (1) ≥3 contiguous segments subepicardial/midwall late gadolinium enhancement in ventricle (LV) at cardiac magnetic resonance plus likely pathogenic/pathogenic (AC) associated genetic mutation and/or familial history AC red flags for ALVC (ie, negative T waves...
The Italian Fabry Disease Cardiovascular Registry (IFDCR) comprises 50 centres with specific expertise in managing cardiovascular manifestations and complications of patients disease (FD). primary aim the IFDCR is to examine improve clinical care outcomes FD by addressing several knowledge gaps epidemiology, natural history, genotype-phenotype correlations, diagnosis, management this condition, particular focus on complications.
Cardiomyopathies are disease of the cardiac muscle largely due to genetic alterations proteins with 'structural' or 'functional' roles within cardiomyocyte, going from regulation contraction-relaxation, metabolic and energetic processes ionic fluxes. Modifications occurring these responsible, in vast majority cases, for phenotypic manifestations disease, including hypertrophic, dilated, arrhythmogenic restrictive cardiomyopathies. Secondary nonhereditary causes be excluded include...
Diagnosis of arrhythmogenic cardiomyopathy (ACM) may be challenging, as it comprises diverse phenotypes (right dominant, biventricular, and left dominant), each overlap with other clinical entities. The issue differential diagnosis conditions mimicking ACM has been previously highlighted; however, a systematic analysis diagnostic delay, its implications, is lacking. Data all patients from three Italian Cardiomyopathy Referral Centres were reviewed to assess the time first medical contact...
Abstract 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 perform a comprehensive evaluation of this phenotype and identify risk factors for life-threatening arrhythmic events (LAEs), composite sudden death (SCD), aborted SCD, sustained tachycardia. Methods results One hundred fifteen [median age 39 (interquartile range, IQR, 28–52), 42% females] were...
Background Electrocardiogram (ECG) has proven to be useful for early detection of cardiac involvement in Anderson-Fabry disease (AFD); however, little evidence is available on the association between ECG alterations and progression disease. Aim Methods To perform a cross sectional comparison abnormalities throughout different left ventricular hypertrophy (LVH) severity subgroups, providing patterns specific progressive AFD stages. 189 patients from multicenter cohort underwent comprehensive...
Brugada syndrome (BrS) is an inherited arrhythmic disease characterized by a coved ST-segment elevation in the right precordial electrocardiogram leads (type 1 ECG pattern) and associated with risk of malignant ventricular arrhythmias sudden cardiac death. In order to assess predictive value Shanghai Score System for presence SCN5A mutation clinical practice, we studied cohort 125 patients spontaneous or fever/drug-induced BrS type pattern, variably symptoms positive family history.The items...
Abstract Background Anderson Fabry disease (AFD) is an X-linked lysosomal storage disorder leading to a deficiency in α-galactosidase A and globotriasylceramide (Gb3) deposition different organs. Cardiac involvement extremely common. It has been shown that the ECG abnormalities are directly correlated with progressive accumulation of glycosphingolipids myocardium cardiac conduction system. However, it still unclear whether alterations clinical events. Purpose To evaluate prognostic role...
Abstract Background The differential diagnosis between Hypertrophic Cardiomyopathy (HCM) and phenocopies is challenging relies on a comprehensive approach, which includes clinical instrumental data, as well laboratory exams genetic testing. In this setting, 12-lead electrocardiogram (ECG) represents valuable tool, but although typical patterns have been described, their diagnostic ability to discriminate different etiologies limited requires considerable experience. However, correct of...
Abstract Background Anderson-Fabry disease (AFD) is an X-linked lysosomal storage that has progressively gained attention due to the availability of specific therapeutic options. Heart involvement critical prognostic significance and differential diagnosis with Hypertrophic Cardiomyopathy (HCM) as challenging it crucial provide patient appropiate treatment. Purpose To describe ECG features in AFD patients according presence anatomical hypertrophy compare them matched HCM patients. Methods...
Abstract Background In Anderson-Fabry Disease (AFD) with cardiac involvement, left ventricular hypertrophy (LVH) is often associated myocardial scarring by cardiovascular magnetic resonance (CMR) late gadolinium enhancement (LGE) imaging. Myocardial inflammation, detected as increased T2 weighted/T2 mapping (T2m) signal, has also been reported, although its role in disease progression still unclear. Purpose To investigate the relationship between T2m and LGE/LVH AFD patients. Methods 67...