Barbara Bauce

Red Flags for Differentiating Desmosomal “Hot‐Phase” Cardiomyopathy From Acute Myocarditis

Giovanni Peretto, Nicolas Piriou, Alessio Gasperetti, Barbara Bauce et autres

BACKGROUND: Desmosomal "hot-phase" cardiomyopathy (HPC), characterized by bursts of myocardial inflammation mimicking acute myocarditis (AM), carries relevant risks of adverse outcomes. This study aimed to identify diagnostic "red flags" favoring HPC over AM. METHODS: Patients (n=134) receiving a first diagnosis of AM, …

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Clinical Characteristics and Outcomes of Patients With Biventricular and Left-Dominant Arrhythmogenic Cardiomyopathy With Ring-Like Late Gadolinium Enhancement Pattern

Nicolò Martini, Raimondo Pittorru, Rudi Celeghin, Giovanni Civieri et autres

BACKGROUND: The ring-like pattern of late gadolinium enhancement (RL-LGE) on cardiac magnetic resonance (CMR) has been proposed as a distinctive imaging marker of arrhythmogenic cardiomyopathy (ACM) with left ventricular (LV) involvement. However, the clinical characteristics and prognostic significance remain to be further …

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Inflammatory cardiomyopathy: Position paper of the Italian Society of Cardiology Working Group on cardiomyopathies and pericardial diseases in collaboration with the Italian Society of Cardiology Working Group on cardiac magnetic resonance

Massimo Imazio, Valentina Jahnsen, Marco Merlo, Alberto Aimo et autres

Inflammatory cardiomyopathy (iCMP) usually represents the chronic, hypokinetic phenotype within the myocarditis spectrum, characterized by persistent myocardial inflammation, systolic ventricular dysfunction, and adverse remodelling. It frequently evolves from prior acute or subacute myocarditis and is associated with significantly worse outcomes, including progression …

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Integrative genomic and literature assessment of desmoglein 2-related arrhythmogenic cardiomyopathy with Italian cohort validation

Serena Pinci, Rudy Celeghin, Marika Martini, Monica De Gaspari et autres

Desmoglein-2 (DSG2) is an essential cardiac desmosomal cadherin, and its alteration underlies a broad spectrum of arrhythmogenic cardiomyopathy (ACM). Yet, the clinical significance of many DSG2 variants remains uncertain. This study aimed to systematically characterize the spectrum, structural impact, and clinical relevance …

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Isolated Nonischemic Left Ventricular Scar in Asymptomatic Athletes

Alessandro Zorzi, Simone Ungaro, Francesca Graziano, Amedeo De Antoni et autres

BACKGROUND: Isolated nonischemic left ventricular scar (NILVS), identified by cardiac magnetic resonance, is an increasing finding in athletes and may be the substrate for life-threatening arrhythmias. Clinical significance in asymptomatic athletes is yet to be investigated. OBJECTIVES: This study sought to describe …

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Myocarditis and pericarditis in focus: A critical appraisal of the 2025 ESC vs ACC position statements from the Italian society of cardiology working group on cardiomyopathies and pericardial diseases

Massimo Imazio, Valentino Collini, Marco Merlo, Alberto Aimo et autres

The 2025 European Society of Cardiology (ESC) guidelines and the 2024-2025 American College of Cardiology (ACC) consensus documents redefine the management of myocarditis and pericarditis, with notable convergence, yet key differences. Both emphasize early, accurate diagnosis, particularly through cardiac magnetic resonance (CMR), …

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Late enhancement, lasting impact: left ventricular fibrosis in arrhythmogenic right ventricular cardiomyopathy

M Martini, Vittorio Marzari, Marco Banzato, A Cecere et autres

Abstract Background The increasing use of Cardiac Magnetic Resonance (CMR) in Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) has revealed that a considerable number of patients show left ventricular (LV) involvement through the detection of late gadolinium enhancement (LGE). While recent studies are investigating …

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Beyond Arrhythmias: Exploring Heart Failure in Arrhythmogenic Cardiomyopathy

Marika Martini, Marta Masini, Ilaria Rigato, Alessandro Parodi et autres

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Hot phase episodes in arrhythmogenic cardiomyopathy: More than just a desmoplakin issue?

Marika Martini, Alessandro Parodi, Maria Bueno Marinas, Ilaria Rigato et autres

Arrhythmogenic cardiomyopathy (ACM) is a genetically determined myocardial disease characterized by myocyte loss, fibro-fatty replacement, and electrical instability. In a subset of patients, episodes of chest pain with troponin release and electrocardiographic abnormalities occur in the absence of ischemic causes. These events, …

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Overlap in scarring phenotypes between non-dilated left ventricular cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: Implications for prognostic stratification

M Martini, M Masini, L F Brizzi, Ilaria Rigato et autres

Abstract Background The latest ESC guidelines on cardiomyopathies have introduced the concept of Non-Dilated Left Ventricular Cardiomyopathy (NDLVC) in contrast to that of Left Dominant Arrhythmogenic Cardiomyopathy (ALVC), with which it partially overlaps. However, aside from cases with a known genetic etiology—particularly …

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Comprehensive genetic analysis of desmoglein-2 in arrhythmogenic cardiomyopathy

Serena Pinci, Rudy Celeghin, M Martini, M Bueno Marinas et autres

Abstract Background Desmoglein-2 (DSG2, MIM#610193) is a transmembrane desmosomal glycoprotein in which primarily truncating variants cause arrhythmogenic cardiomyopathy (ACM) (OMIM#107970; ORPHA247), characterized by electrical instability and myocardial fibro-fatty replacement. An undefined number of DSG2 missense variants have been reported, but their role …

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LMNA variants distribution and their impact on the cardiac phenotypic spectrum

M Bueno Marinas, M Martini, F Dalla Zanna, Marco Cason et autres

Abstract Introduction A-type lamins (Lamins A and C), encoded by the lamin A/C gene (LMNA), are type V intermediate filament proteins produced through alternative RNA splicing. These proteins are essential components of the nuclear lamina. LMNA variants result in diverse clinical phenotypes, …

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