Arrhythmogenic Left Ventricular Cardiomyopathy: Genotype-Phenotype Correlations and New Diagnostic Criteria

Mattesi, Giulia; Cipriani, Alberto; Bauce, Barbara; Rigato, Ilaria; Zorzi, Alessandro; Corrado, Domenico

doi:10.3390/jcm10102212

Cited by 27 publications

(25 citation statements)

References 82 publications

(134 reference statements)

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“…In particular, mutations of TMEM43 p.S358L are characterised by higher disease penetrance and risk of SCD. FLNC, DES and PLN mutations have been associated with peculiar patterns of LV fibrosis and arrhythmic propensity, with higher risk of VAs and SCD [24][25][26][27][28][29][30][31].…”

Section: Genetic Backgroundmentioning

confidence: 99%

Arrhythmogenic Cardiomyopathy—Current Treatment and Future Options

Migliore

Mattesi

Zorzi

et al. 2021

JCM

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Arrhythmogenic cardiomyopathy (ACM) is an inheritable heart muscle disease characterised pathologically by fibrofatty myocardial replacement and clinically by ventricular arrhythmias (VAs) and sudden cardiac death (SCD). Although, in its original description, the disease was believed to predominantly involve the right ventricle, biventricular and left-dominant variants, in which the myocardial lesions affect in parallel or even mostly the left ventricle, are nowadays commonly observed. The clinical management of these patients has two main purposes: the prevention of SCD and the control of arrhythmic and heart failure (HF) events. An implantable cardioverter defibrillator (ICD) is the only proven lifesaving treatment, despite significant morbidity because of device-related complications and inappropriate shocks. Selection of patients who can benefit the most from ICD therapy is one of the most challenging issues in clinical practice. Risk stratification in ACM patients is mostly based on arrhythmic burden and ventricular dysfunction severity, although other clinical features resulting from electrocardiogram and imaging modalities such as cardiac magnetic resonance may have a role. Medical therapy is crucial for treatment of VAs and the prevention of negative ventricular remodelling. In this regard, the efficacy of novel anti-HF molecules and drugs acting on the inflammatory pathway in patients with ACM is, to date, unknown. Catheter ablation represents an effective strategy to treat ventricular tachycardia relapses and recurrent ICD shocks. The present review will address the current strategies for prevention of SCD and treatment of VAs and HF in patients with ACM.

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Section: Genetic Backgroundmentioning

confidence: 99%

Arrhythmogenic Cardiomyopathy—Current Treatment and Future Options

Migliore

Mattesi

Zorzi

et al. 2021

JCM

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“…Furthermore, it was thought that LV involvement occurs at a later stage in the evolution of ARVC, but several cases were described in which LV involvement was more important than RV involvement or cases with isolated LV impairment [56]. As we are now 11 years away from the latest Task Force Diagnostic Criteria published in 2010, our opinion is that the time to include LV involvement in the diagnostic criteria of ARVC has come.…”

Section: Left Ventricle Cmr Evaluation In Arvcmentioning

confidence: 99%

Anatomical-MRI Correlations in Adults and Children with Arrhythmogenic Right Ventricular Cardiomyopathy

et al. 2021

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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare disease in which the right ventricular myocardium is replaced by islands of fibro-adipose tissue. Therefore, ventricular re-entry circuits can occur, predisposing the patient to ventricular tachyarrhythmias, as well as dilation of the right ventricle that eventually leads to heart failure. Although it is a rare disease with low prevalence in Europe and the United States, many patients are addressed disproportionately for cardiac magnetic resonance imaging (MRI). The most severe consequence of this condition is sudden cardiac death at a young age due to untreated cardiac arrhythmias. The purpose of this paper is to revise the magnetic resonance characteristics of ARVC, including the segmental contraction abnormalities, fatty tissue replacement, decrease of the ejection fraction, and the global RV dilation. Herein, we also present several recent improvements of the 2010 Task Force criteria that are not included within the ARVC diagnosis guidelines. In our opinion, these features will be considered in a future Task Force Consensus.

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“…Recently, a phenotypic variant characterized by predominant LV involvement with no or minor RV abnormalities, also referred to as Arrhythmogenic left ventricular cardiomyopathy (ALVC), has been described [ 5 ]. In this form, a diagnosis can be challenging, and it is usually made in the presence of a subepicardial or ring-like late gadolinium enhancement (LGE) at cardiac magnetic resonance (CMR), prominent LV dilatation/dysfunction in the setting of relatively mild or absent right-sided disease, peculiar ECG features (inferolateral T-wave inversion, low QRS voltages-LQRSv) and ventricular arrhythmias of LV origin [ 5 , 6 , 7 , 8 ].…”

Section: Introductionmentioning

confidence: 99%

Genetic Background and Clinical Features in Arrhythmogenic Left Ventricular Cardiomyopathy: A Systematic Review

Bariani

Rigato

Cason

et al. 2022

JCM

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In recent years a phenotypic variant of Arrhythmogenic cardiomyopathy has been described, characterized by predominant left ventricular (LV) involvement with no or minor right ventricular abnormalities, referred to as Arrhythmogenic left ventricular cardiomyopathy (ALVC). Different disease-genes have been identified in this form, such as Desmoplakin (DSP), Filamin C (FLNC), Phospholamban (PLN) and Desmin (DES). The main purpose of this critical systematic review was to assess the level of knowledge on genetic background and clinical features of ALVC. A search (updated to April 2022) was run in the PubMed, Scopus, and Web of Science electronic databases. The search terms used were “arrhythmogenic left ventricular cardiomyopathy” OR “arrhythmogenic cardiomyopathy” and “gene” OR “arrhythmogenic dysplasia” and “gene”. The most represented disease-gene turned out to be DSP, accounting for half of published cases, followed by FLNC. Overall, ECG abnormalities were reported in 58% of patients. Major ventricular arrhythmias were recorded in 26% of cases; an ICD was implanted in 29% of patients. A total of 6% of patients showed heart failure symptoms, and 15% had myocarditis-like episodes. DSP is confirmed to be the most represented disease-gene in ALVC patients. An analysis of reported clinical features of ALVC patients show an important degree of electrical instability, which frequently required an ICD implant. Moreover, myocarditis-like episodes are common.

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Arrhythmogenic Left Ventricular Cardiomyopathy: Genotype-Phenotype Correlations and New Diagnostic Criteria

Cited by 27 publications

References 82 publications

Arrhythmogenic Cardiomyopathy—Current Treatment and Future Options

Arrhythmogenic Cardiomyopathy—Current Treatment and Future Options

Anatomical-MRI Correlations in Adults and Children with Arrhythmogenic Right Ventricular Cardiomyopathy

Genetic Background and Clinical Features in Arrhythmogenic Left Ventricular Cardiomyopathy: A Systematic Review

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