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

Bariani, Riccardo; Rigato, Ilaria; Cason, Marco; Marinas, Maria Bueno; Celeghin, Rudy; Pilichou, Kalliopi; Bauce, Barbara

doi:10.3390/jcm11154313

Cited by 17 publications

(23 citation statements)

References 75 publications

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“…On the other hand, genetic variants of PKP2 and DSG2 were detected in 17% of cases. These data confirm the key role of a genetic test in diagnostic work-up of cardiomyopathies, even if it is important to consider that gene-elusive cases are not rare, and consequently, in these patients, further investigations must be carried out to rule out phenocopies [ 31 ].…”

Section: Discussionmentioning

confidence: 53%

Myocarditis-like Episodes in Patients with Arrhythmogenic Cardiomyopathy: A Systematic Review on the So-Called Hot-Phase of the Disease

et al. 2022

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Arrhythmogenic cardiomyopathy (ACM) is a genetically determined myocardial disease, characterized by myocytes necrosis with fibrofatty substitution and ventricular arrhythmias that can even lead to sudden cardiac death. The presence of inflammatory cell infiltrates in endomyocardial biopsies or in autoptic specimens of ACM patients has been reported, suggesting a possible role of inflammation in the pathophysiology of the disease. Furthermore, chest pain episodes accompanied by electrocardiographic changes and troponin release have been observed and defined as the “hot-phase” phenomenon. The aim of this critical systematic review was to assess the clinical features of ACM patients presenting with “hot-phase” episodes. According to PRISMA guidelines, a search was run in the PubMed, Scopus and Web of Science electronic databases using the following keywords: “arrhythmogenic cardiomyopathy”; “myocarditis” or “arrhythmogenic cardiomyopathy”; “troponin” or “arrhythmogenic cardiomyopathy”; and “hot-phase”. A total of 1433 titles were retrieved, of which 65 studies were potentially relevant to the topic. Through the application of inclusion and exclusion criteria, 9 papers reporting 103 ACM patients who had experienced hot-phase episodes were selected for this review. Age at time of episodes was available in 76% of cases, with the mean age reported being 26 years ± 14 years (min 2–max 71 years). Overall, 86% of patients showed left ventricular epicardial LGE. At the time of hot-phase episodes, 49% received a diagnosis of ACM (Arrhythmogenic left ventricular cardiomyopathy in the majority of cases), 19% of dilated cardiomyopathy and 26% of acute myocarditis. At the genetic study, Desmoplakin (DSP) was the more represented disease-gene (69%), followed by Plakophillin-2 (9%) and Desmoglein-2 (6%). In conclusion, ACM patients showing hot-phase episodes are usually young, and DSP is the most common disease gene, accounting for 69% of cases. Currently, the role of “hot-phase” episodes in disease progression and arrhythmic risk stratification remains to be clarified.

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Section: Discussionmentioning

confidence: 53%

Myocarditis-like Episodes in Patients with Arrhythmogenic Cardiomyopathy: A Systematic Review on the So-Called Hot-Phase of the Disease

et al. 2022

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“…Desmoplakin (DSP) is a desmosomal protein that is encoded by the DSP gene, located on chromosome 6p24. DSP is expressed in both the skin and myocardium and plays an essential role in cell-to-cell adhesion within the cardiomyocytes by anchoring intermediate filaments to the desmosome [ 1 , 2 ].…”

Section: Introductionmentioning

confidence: 99%

Desmoplakin Cardiomyopathy: Comprehensive Review of an Increasingly Recognized Entity

Brandão

Bariani

Rigato

et al. 2023

JCM

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Desmoplakin (DSP) is a desmosomal protein that plays an essential role for cell-to-cell adhesion within the cardiomyocytes. The first association between DSP genetic variants and the presence of a myocardial disease referred to patients with Carvajal syndrome. Since then, several reports have linked the DSP gene to familial forms of arrhythmogenic (ACM) and dilated cardiomyopathies. Left-dominant ACM is the most common phenotype in individuals carrying DSP variants. More recently, a new entity—“Desmoplakin cardiomyopathy”—was described as a distinct form of cardiomyopathy characterized by frequent left ventricular involvement with extensive fibrosis, high arrhythmic risk, and episodes of acute myocardial injury. The purpose of this review was to summarize the available evidence on DSP cardiomyopathy and to identify existing gaps in knowledge that need clarification from upcoming research.

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“…In this form, the diagnosis can be challenging and it is usually made on the basis of ECG features (inferolateral T-wave inversion and low QRS voltages); VAs of LV origin; prominent LV dilatation/dysfunction in the setting of relatively mild or absent right-sided disease; and in the presence of subepicardial or ring-like late gadolinium enhancement (LGE) following a cardiac magnetic resonance (CMR) assessment [4][5][6]. Genotype-phenotype correlation studies demonstrated that desmoplakin (DSP) and filamin C (FLNC) are the most common disease genes in ALVC [7]. However, many cases are still gene elusive [5,8].…”

Section: Introductionmentioning

confidence: 99%

Pregnancy in Women with Arrhythmogenic Left Ventricular Cardiomyopathy

Bariani

Marinas

Rigato

et al. 2022

JCM

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Background: In the last few years, a phenotypic variant of arrhythmogenic cardiomyopathy (ACM) labeled arrhythmogenic left ventricular cardiomyopathy (ALVC) has been defined and researched. This type of cardiomyopathy is characterized by a predominant left ventricular (LV) involvement with no or minor right ventricular (RV) abnormalities. Data on the specific risk and management of pregnancy in women affected by ALVC are, thus far, not available. We have sought to characterize pregnancy course and outcomes in women affected by ALVC through the evaluation of a series of childbearing patients. Methods: A series of consecutive female ALVC patients were analyzed in a cross-sectional, retrospective study. Study protocol included 12-lead ECG assessments, 24-h Holter ECG evaluations, 2D-echocardiogram tests, cardiac magnetic resonance assessments, and genetic analysis. Furthermore, the long-term disease course of childbearing patients was compared with a group of nulliparous ALVC women. Results: A total of 35 patients (mean age 45 ± 9 years, 51% probands) were analyzed. Sixteen women (46%) reported a pregnancy, for a total of 27 singleton viable pregnancies (mean age at first childbirth 30 ± 9 years). Before pregnancy, all patients were in the NYHA class I and none of the patients reported a previous heart failure (HF) episode. No significant differences were found between childbearing and nulliparous women regarding ECG features, LV dimensions, function, and extent of late enhancement. Overall, 7 patients (20%, 4 belonging to the childbearing group) experienced a sustained ventricular tachycardia and 2 (6%)—one for each group—showed heart failure (HF) episodes. The analysis of arrhythmia-free survival patients did not show significant differences between childbearing and nulliparous women. Conclusions: In a cohort of ALVC patients without previous episodes of HF, pregnancy was well tolerated, with no significant influence on disease progression and degree of electrical instability. Further studies on a larger cohort of women with different degrees of disease extent and genetic background are needed in order to achieve a more comprehensive knowledge regarding the outcome of pregnancy in ALVC patients.

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

Cited by 17 publications

References 75 publications

Myocarditis-like Episodes in Patients with Arrhythmogenic Cardiomyopathy: A Systematic Review on the So-Called Hot-Phase of the Disease

Myocarditis-like Episodes in Patients with Arrhythmogenic Cardiomyopathy: A Systematic Review on the So-Called Hot-Phase of the Disease

Desmoplakin Cardiomyopathy: Comprehensive Review of an Increasingly Recognized Entity

Pregnancy in Women with Arrhythmogenic Left Ventricular Cardiomyopathy

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