Arrhythmogenic right ventricular cardiomyopathy with biventricular involvement and heart failure in a 9-year old girl

Sultan, Fateh Ali Tipoo; Ahmed, M.; Miller, Jacqueline; Selvanayagam, Joseph B.

doi:10.1016/j.jsha.2016.08.001

Cited by 3 publications

(1 citation statement)

References 11 publications

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“…ARVC/D has a predominantly autosomal dominant inheritance, although recessive forms associated with a cutaneous phenotype, such as Naxos disease and Carvajal syndrome, are also observed . Despite RV abnormalities being the predominant finding, it has been recently appreciated that patients with ARVC/D may also have some degree of left ventricular (LV) involvement and indeed severe LV impairment can sometimes be the initial manifestation of the disorder . An LV‐predominant form of ARVC/D has recently been described .…”

Section: Introductionmentioning

confidence: 99%

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) in clinical practice

Bazoukis

Liu

et al. 2017

Journal of Arrhythmia

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Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an inherited myocardial disease characterized by fibro‐fatty replacement of the right ventricular myocardium, and associated with paroxysmal ventricular arrhythmias and sudden cardiac death (SCD). It is currently the second most common cause of SCD after hypertrophic cardiomyopathy in young people <35 years of age, causing up to 20% of deaths in this patient population. This condition has a male preponderance and is more commonly found in individuals of Italian and Greek descent. To date, there is no single diagnostic test for ARVC/D and the diagnosis is made based on clinical, electrocardiographic, and radiological findings according to the Revised 2010 Task Force Criteria. In this review, we will discuss the mainstay treatment which includes pharmacotherapy, implantable cardioverter‐defibrillator insertion for abortion of sudden cardiac death, and in the advanced stages of the disease cardiac transplantation.

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Section: Introductionmentioning

confidence: 99%

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) in clinical practice

Bazoukis

Liu

et al. 2017

Journal of Arrhythmia

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Arrhythmogenic Cardiomyopathy: from Preclinical Models to Genotype–phenotype Correlation and Pathophysiology

Fan,

Yang,

Duru

et al. 2023

Stem Cell Rev and Rep

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Arrhythmogenic cardiomyopathy (ACM) is a hereditary myocardial disease characterized by the replacement of the ventricular myocardium with fibrous fatty deposits. ACM is usually inherited in an autosomal dominant pattern with variable penetrance and expressivity, which is mainly related to ventricular tachyarrhythmia and sudden cardiac death (SCD). Importantly, significant progress has been made in determining the genetic background of ACM due to the development of new techniques for genetic analysis. The exact molecular pathomechanism of ACM, however, is not completely clear and the genotype–phenotype correlations have not been fully elucidated, which are useful to predict the prognosis and treatment of ACM patients. Different gene-targeted and transgenic animal models, human-induced pluripotent stem cell-derived cardiomyocyte (hiPSC-CM) models, and heterologous expression systems have been developed. Here, this review aims to summarize preclinical ACM models and platforms promoting our understanding of the pathogenesis of ACM and assess their value in elucidating the ACM genotype–phenotype relationship. Graphical Abstract

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Myocardial fibrosis in arrhythmogenic cardiomyopathy: a genotype–phenotype correlation study

Segura-Rodríguez

Jiménez

Carriel

et al. 2019

European Heart Journal - Cardiovascular Imaging

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Aims Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a life-threatening entity with a highly heterogeneous genetic background. Cardiac magnetic resonance (CMR) imaging can identify fibrofatty scar by late gadolinium enhancement (LGE). Our aim is to investigate genotype–phenotype correlation in ARVC/D mutation carriers, focusing on CMR-LGE and myocardial fibrosis patterns. Methods and results A cohort of 44 genotyped patients, 33 with definite and 11 with borderline ARVC/D diagnosis, was characterized using CMR and divided into groups according to their genetic condition (desmosomal, non-desmosomal mutation, or negative). We collected information on cardiac volumes and function, as well as LGE pattern and extension. In addition, available ventricular myocardium samples from patients with pathogenic gene mutations were histopathologically analysed. Half of the patients were women, with a mean age of 41.6 ± 17.5 years. Next-generation sequencing identified a potential pathogenic mutation in 71.4% of the probands. The phenotype varied according to genetic status, with non-desmosomal male patients showing lower left ventricular (LV) systolic function. LV fibrosis was similar between groups, but distribution in non-desmosomal patients was frequently located at the posterolateral LV wall; a characteristic LV subepicardial circumferential LGE pattern was significantly associated with ARVC/D caused by desmin mutation. Histological analysis showed increased fibrillar connective tissue and intercellular space in all the samples. Conclusion Desmosomal and non-desmosomal mutation carriers showed different morphofunctional features but similar LV LGE presence. DES mutation carriers can be identified by a specific and extensive LV subepicardial circumferential LGE pattern. Further studies should investigate the specificity of LGE in ARVC/D.

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Arrhythmogenic right ventricular cardiomyopathy with biventricular involvement and heart failure in a 9-year old girl

Cited by 3 publications

References 11 publications

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) in clinical practice

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) in clinical practice

Arrhythmogenic Cardiomyopathy: from Preclinical Models to Genotype–phenotype Correlation and Pathophysiology

Myocardial fibrosis in arrhythmogenic cardiomyopathy: a genotype–phenotype correlation study

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