Publications by authors named "Porretta A"

Article Synopsis
  • KCNQ1 mutations are linked to long QT syndrome (LQT) and increase the risk of life-threatening heart arrhythmias, with distinct impacts based on whether the mutations are heterozygous or homozygous.
  • This study analyzed data from 789 individuals with KCNQ1 variants to compare QTc duration and cardiac event risks among three groups: JLNS patients, heterozygous JLNS variant carriers, and heterozygous non-JLNS variant carriers.
  • Findings revealed that heterozygous JLNS variant carriers had a significantly lower risk of cardiac events compared to non-JLNS carriers, with specific genetic factors identified as influencing these risks.
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Background: Enzyme replacement therapy (ERT) may halt or attenuate disease progression in patients with Anderson-Fabry disease (AFD). However, whether left ventricular hypertrophy (LVH) can be prevented by early therapy or may still progress despite ERT over a long-term follow-up is still unclear.

Methods: Consecutive patients with AFD from the Independent Swiss-Fabry Cohort receiving ERT who were at least followed up for 5 years were included.

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Cardiac arrhythmias are a leading cause of mortality worldwide. Wearable devices based on photoplethysmography give the opportunity to screen large populations, hence allowing for an earlier detection of pathological rhythms that might reduce the risks of complications and medical costs. While most of beat detection algorithms have been evaluated on normal sinus rhythm or atrial fibrillation recordings, the performance of these algorithms in patients with other cardiac arrhythmias, such as ventricular tachycardia or bigeminy, remain unknown to date.

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Healthcare-associated infections (HAIs) pose significant challenges in healthcare systems, with preventable surveillance playing a crucial role. Traditional surveillance, although effective, is resource-intensive. The development of new technologies, such as artificial intelligence (AI), can support traditional surveillance in analysing an increasing amount of health data or meeting patient needs.

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The decline in children's vaccination coverage and the resurgence of preventable infectious diseases draw attention to parents' vaccine hesitancy. Our study introduces two validated tools to independently assess vaccine hesitancy and health literacy among parents with school-age children. We developed a Vaccine Confidence Index (VCI) from 10 Likert items, exploring their relationships through exploratory and confirmatory factor analyses.

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Over the last few years, pacing of the conduction system (CSP) has emerged as the new standard pacing modality for bradycardia indications, allowing a more physiological ventricular activation compared to conventional right ventricular pacing. CSP has also emerged as an alternative modality to conventional biventricular pacing for the delivery of cardiac resynchronization therapy (CRT) in heart failure patients. However, if the initial clinical data seem to support this new physiological-based approach to CRT, the lack of large randomized studies confirming these preliminary results prevents CSP from being used routinely in clinical practice.

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Antimicrobial resistance (AMR) presents a growing threat to global healthcare. This descriptive epidemiological study investigates the prevalence and characteristics of Enterobacterales with AMR factors in a tertiary teaching hospital in Italy over the course of the year 2021. In 2021, the prevalence of colonisation by Enterobacterales with AMR factors in patients was 1.

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Background: Cardiac sarcoidosis is associated with heart failure, conduction abnormalities, and life-threatening arrhythmias including ventricular tachycardia (VT). Radiotherapy has been suggested as a treatment for extra-cardiac sarcoidosis in patients refractory to immunomodulatory treatment.

Methods: The effectiveness and safety of low-dose whole-heart radiotherapy for therapy refractory cardiac sarcoidosis were evaluated in a pre- and post-intervention case report comparing the 54 months before and after treatment.

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Article Synopsis
  • Calmodulinopathy is caused by mutations in CALM genes and leads to serious arrhythmias, particularly in young people; the ICalmR aims to connect clinical symptoms with molecular causes.
  • The ICalmR has gathered data from 140 patients, showing a notable presence of CALM-LQTS and CALM-CPVT, and has observed a decrease in the frequency of serious cardiac events compared to past data.
  • The condition presents a wide range of symptoms, from severe arrhythmias to no symptoms at all; while therapy options are limited and based on current practices, management often involves medication and devices like defibrillators.
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Objectives: In Tuscany, Italy, New Delhi metallo-beta-lactamase-producing carbapenem-resistant Enterobacterales (NDM-CRE) in hospitalized patients has increasingly been observed since 2018, leading in 2019 to the implementation of enhanced control measures successfully reducing transmission. We describe the NDM-CRE epidemiology during the COVID-19 pandemic in Tuscany.

Methods: Data on NDM-CRE patients hospitalized in five Tuscan hospitals were collected from January 2019 to December 2021.

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Article Synopsis
  • MYBPC3 is the most commonly mutated gene linked to hypertrophic cardiomyopathy (HCM) and has multiple loss-of-function variants that show minimal impact on reproductive fitness across different regions.
  • One notable variant, NM_000256.3:c.3330+2T > G, was initially found in severe HCM cases among Amish newborns but is also seen in adult HCM patients and has now been reported in Swiss families.
  • The presence of this variant in various populations suggests a larger pool of asymptomatic carriers, indicating that those with severe early-onset symptoms might not represent the full scope of the variant's effect on health.
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Purpose: Stereotactic arrhythmia radioablation (STAR) is an effective treatment for refractory ventricular tachycardia (VT), but recurrences after STAR were recently published. Herein, we report two cases of successful re-irradiation of the arrhythmogenic substrate.

Cases: We present two cases of re-irradiation after recurrence of a previously treated VT with radioablation at a dose of 20 Gy.

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Atrial fibrillation (AF) is the most common arrhythmia encountered in adults; it is associated with a significant morbidity and mortality. Obesity is a risk factor contributing to AF occurrence. Recently, interest has focused on epicardial adipose tissue (EAT), defined as a fatty deposit located between the epicardium and the visceral pericardium.

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SCN5A overlap syndromes are clinical entities that express a phenotype combining aspects of different canonical SCN5A-related arrhythmia syndromes or a variable arrhythmic phenotype among individuals carrying the same SCN5A mutation. Here we review the literature addressing SCN5A overlap syndromes as well as the principal mechanisms currently proposed. Among others, a multifactorial determination encompassing an interaction between SCN5A variant(s), other genetic polymorphisms, and possibly environmental factors seems the most plausible hypothesis.

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Over the last decades, the implementation of new technology in cardiac pacemakers and defibrillators as well as the increasing life expectancy have been associated with a higher incidence of transvenous lead complications over time. Variable degrees of venous stenosis at the level of the subclavian vein, the innominate trunk and the superior vena cava are reported in up to 50% of implanted patients. Importantly, the number of implanted leads seems to be the main risk factor for such complications.

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Article Synopsis
  • - The study evaluated the safety, image quality, and diagnostic effectiveness of stress perfusion-CMR imaging in patients with specific implantable devices—permanent pacemakers and defibrillators.
  • - Out of 3743 stress-CMR exams, only 66 involved patients with devices, and imaging quality was found to be diagnostic in 98% of cases with no device malfunctions reported.
  • - The results showed that stress perfusion-CMR effectively detected ischemia, correlating with significant coronary lesions in 9% of patients who tested positive for ischemia.
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Background: The diagnosis of inflammatory cardiomyopathy remains challenging in cases presenting with arrhythmia as sole manifestation. An early diagnosis is critical as it may prevent life-threatening complications such as sudden cardiac death and atrioventricular block (AVB). The diagnostic workup of suspected cases includes multimodality imaging that requires an adequate interpretation in order to limit the risk of overdiagnosis.

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Background: Transmission of antimicrobial-resistant Gram-negative bacteria (AMR-GNB) amongst hospitalised patients can lead to new cases of carriage, infection and outbreaks, hence the need for early carrier identification. We aim to explore two key elements that may guide control policies for colonisation/infection in hospital settings: screening practices on admission to hospital wards and risk of developing infection from colonisation.

Methods: We searched on PubMed, Scopus and Cochrane databases for studies published from 2010 up to 2021 reporting on adult patients hospitalised in high-income countries.

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Objectives: In this article, we aim to share our experience in the hospital reorganization made to conduct the SARS-CoV-2 vaccination campaign, based on the principles of flexibility and adaptability.

Study Design: A descriptive study.

Methods: The data concerning the organization of the vaccination campaign were taken from the operative protocol developed by the hospital dedicated task force, composed by experts in hygiene, public health, occupational medicine, pharmacists, nurses, hospital quality, and disaster managers.

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Objectives: We aimed to evaluate the relationship between mitral annular disjunction (MAD) severity and myocardial interstitial fibrosis at the left ventricular (LV) base in patients with mitral valve prolapse (MVP), and to assess the association between severity of interstitial fibrosis and the occurrence of ventricular arrhythmic events.

Background: In MVP, MAD has been associated with myocardial replacement fibrosis and arrhythmia, but the importance of interstitial fibrosis remains unknown.

Methods: In this retrospective study, 30 patients with MVP and MAD (MVP-MAD) underwent cardiovascular magnetic resonance (CMR) with assessment of MAD length, late gadolinium enhancement (LGE), and basal segments myocardial extracellular volume (ECVsyn).

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