Myocardial Inflammation as a Manifestation of Genetic Cardiomyopathies: From Bedside to the Bench

Peretto, Giovanni; Sommariva, Elena; Resta, Chiara Di; Rabino, Martina; Villatore, Andrea; Lazzeroni, Davide; Sala, Simone; Pompilio, Giulio; Cooper, Leslie T.

doi:10.3390/biom13040646

Cited by 15 publications

(12 citation statements)

References 148 publications

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“…Another protein involved in calcium handling is phospholamban ( PLN gene). Pathogenic variants in PLN are associated with arrhythmogenic and dilated cardiomyopathy, leading to ventricular arrhythmias and heart failure [ 29 ]. Therefore, CaM-related proteins, including WFS1, may represent another key target to modulate the entity of inflammatory-driven myocardial degeneration [ 29 ].…”

Section: Discussionmentioning

confidence: 99%

“…Pathogenic variants in PLN are associated with arrhythmogenic and dilated cardiomyopathy, leading to ventricular arrhythmias and heart failure [ 29 ]. Therefore, CaM-related proteins, including WFS1, may represent another key target to modulate the entity of inflammatory-driven myocardial degeneration [ 29 ]. Remarkably, in our patient, extensive fibrosis was found at histology, associated with only rare lymphocytic infiltrates, suggesting subacute progressive myocardial damage.…”

Section: Discussionmentioning

confidence: 99%

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Cardiac Wolframinopathies: A Case Report of Myocarditis and a Literature Review of Cardiac Involvement in Wolfram Syndrome 1

Villatore,

Frontino,

Cascavilla

et al. 2024

JCM

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Purpose: Myocarditis is frequently a sporadic disease, but may also occur in the context of genetic disorders which may increase susceptibility to cardiac inflammation. Cardiac involvement in Wolfram syndrome type 1 (WS1) has been scarcely characterized. To our knowledge, no cases of virus-negative myocarditis have been reported in the WS1 pediatric population. Methods: We report the description of a pediatric case of acute myocarditis in the context of WS1, followed by a literature review of cardiovascular involvement associated with wolframin variants, and discuss potential pathophysiological mechanisms and therapeutic options. Results: A young patient with WS1, treated with insulin and liraglutide, was admitted for acute chest pain. Cardiac magnetic resonance and endomyocardial biopsy were performed to confirm the clinical suspicion of myocarditis. While congenital heart diseases and arrhythmias have been described previously in patients with WS1, this is the first description of virus-negative myocarditis. Conclusions: Myocarditis may represent a possible manifestation of cardiovascular involvement in WS1. Cardiovascular screening may be considered in patients with WS1.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Cardiac Wolframinopathies: A Case Report of Myocarditis and a Literature Review of Cardiac Involvement in Wolfram Syndrome 1

Villatore,

Frontino,

Cascavilla

et al. 2024

JCM

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“…In this setting, the presence and type of arrhythmias may strongly depend on the genotype. For instance, cytoskeletal genes may predispose to maladaptive evolution towards DCM, whereas desmosomal genes towards ventricular arrhythmias and myocardial inflammation ( 17 , 27 ). In turn, mutations in the LMNA gene may account for both brady- and tachyarrhythmias, much earlier than overt LV systolic dysfunction occurs ( 28 ).…”

Section: Critical Review Of the Literaturementioning

confidence: 99%

The “arrhythmic” presentation of peripartum cardiomyopathy: case series and critical review of the literature

Peretto,

Micaglio,

Ciconte

et al. 2024

Front. Cardiovasc. Med.

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Peripartum Cardiomyopathy (PPCM) is a polymorphic myocardial disease occurring late during pregnancy or early after delivery. While reduced systolic function and heart failure (HF) symptoms have been widely described, there is still a lack of reports about the arrhythmic manifestations of the disease. Most importantly, a broad range of unidentified pre-existing conditions, which may be missed by general practitioners and gynecologists, must be considered in differential diagnosis. The issue is relevant since some arrhythmias are associated to sudden cardiac death occurring in young patients, and the overall risk does not cease during the early postpartum period. This is why multimodality diagnostic workup and multidisciplinary management are highly suggested for these patients. We reported a series of 16 patients diagnosed with PPCM following arrhythmic clinical presentation. Both inpatients and outpatients were identified retrospectively. We performed several tests to identify the arrhythmic phenomena, inflammation and fibrosis presence. Cardiomyopathies phenotypes were reclassified in compliance with the updated ESC guidelines recommendations. Arrhythmias were documented in all the patients during the first cardiological assessment. PVC were the most common recorder arrhythmias, followed by VF, NSVT, AF, CSD.

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“…Only in carriers of desmoplakin (DSP) gene variants, characterized by predominant LV involvement and by recurrent episodes of acute chest pain associated with myocardial injury and/or ventricular arrhythmias, 18-FDG PET may improve the assessment of inflammatory “warm phase”, which represents the early pre-phenotypic stage of ACM [ 58 ]. According to a recent study, patients with DSP-related cardiomyopathy usually demonstrate an 18-FDG PET-positive scan in 59% of cases, in terms of focal (70%) or diffuse (30%) uptake; in this sense, it has been suggested to apply FDG-PET as a method to differentiate diagnosis in the context of ACM phenocopies, such as myocarditis, cardiac sarcoidosis, and other immune-mediated diseases [ 59 , 60 , 61 ].…”

Section: The Hierarchical and Multiparametric Approach Of Scd Risk Es...mentioning

confidence: 99%

Personalized Management of Sudden Death Risk in Primary Cardiomyopathies: From Clinical Evaluation and Multimodality Imaging to Ablation and Cardioverter-Defibrillator Implant

Lazzeroni,

Crocamo,

Ziveri

et al. 2023

JPM

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Sudden cardiac death represents the leading cause of death worldwide; although the majority of sudden deaths occur in an elderly population with coronary artery disease, some occur in young and otherwise healthy individuals, as is the case of cardiomyopathies. The aim of the present review is to provide a stepwise hierarchical approach for the global sudden death risk estimation in primary cardiomyopathies. Each individual risk factor is analyzed for its contribution to the overall risk of sudden death for each specific cardiomyopathy as well as across all primary myocardial diseases. This stepwise hierarchical and personalized approach starts from the clinical evaluation, subsequently passes through the role of electrocardiographic monitoring and multimodality imaging, and finally concludes with genetic evaluation and electro-anatomical mapping. In fact, the sudden cardiac death risk assessment in cardiomyopathies depends on a multiparametric approach. Moreover, current indications for ventricular arrhythmia ablation and defibrillator implantation are discussed.

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Myocardial Inflammation as a Manifestation of Genetic Cardiomyopathies: From Bedside to the Bench

Cited by 15 publications

References 148 publications

Cardiac Wolframinopathies: A Case Report of Myocarditis and a Literature Review of Cardiac Involvement in Wolfram Syndrome 1

Cardiac Wolframinopathies: A Case Report of Myocarditis and a Literature Review of Cardiac Involvement in Wolfram Syndrome 1

The “arrhythmic” presentation of peripartum cardiomyopathy: case series and critical review of the literature

Personalized Management of Sudden Death Risk in Primary Cardiomyopathies: From Clinical Evaluation and Multimodality Imaging to Ablation and Cardioverter-Defibrillator Implant

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