Sex hormones affect outcome in arrhythmogenic right ventricular cardiomyopathy/dysplasia: from a stem cell derived cardiomyocyte-based model to clinical biomarkers of disease outcome

Akdiş, Deniz; Saguner, Ardan M.; Shah, Khalid; Wei, Chu; Medeiros-Domingo, Argelia; Eckardstein, Arnold von; Lüscher, Thomas F.; Brunckhorst, Corinna; Chen, H S Vincent; Duru, Fırat

doi:10.1093/eurheartj/ehx011

Cited by 126 publications

(111 citation statements)

References 42 publications

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“…19 In patients with arrhythmogenic cardiomyopathy estradiol appears to have a protective and testosterone a detrimental effect across both sexes. 20 Increased levels of estradiol reduced myocyte apoptosis in an in vitro model of arrhythmogenic cardiomyopathy, while increased testosterone levels potentiated it. Myocyte death is central to the development of replacement fibrosis and it is possible that the different impact of these sex hormones on myocyte survival contributes to a higher prevalence of replacement fibrosis in men.…”

Section: Discussionmentioning

confidence: 99%

“…Protection from cardiovascular disease in pre‐menopausal women has been linked with sex hormones, including estradiol . In patients with arrhythmogenic cardiomyopathy estradiol appears to have a protective and testosterone a detrimental effect across both sexes . Increased levels of estradiol reduced myocyte apoptosis in an in vitro model of arrhythmogenic cardiomyopathy, while increased testosterone levels potentiated it.…”

Section: Discussionmentioning

confidence: 99%

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Sex‐ and age‐based differences in the natural history and outcome of dilated cardiomyopathy

Halliday

Gulati

Ali

et al. 2018

European J of Heart Fail

108

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Sex‐ and age‐based differences in the natural history and outcome of dilated cardiomyopathy

Halliday

Gulati

Ali

et al. 2018

European J of Heart Fail

108

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“…Other genetic causes of AC are less well studied, but data suggest that for mutations in TMEM43 , RBM20 , the founder R14del in phospholamban and FLNC , sudden death risk relates to the severity of structural and functional abnormalities, although anecdotal reports and familial evaluation suggest that sudden death can be the initial presenting feature . Several novel disease biomarkers that might aid risk prediction are under study, such as testosterone, BIN‐1, soluble ST2 and anti‐desmoglein‐2 autoantibodies . However, these have not been compared with conventional risk factors.…”

Section: How Can Sudden Cardiac Death Prediction Be Improved In Arrhymentioning

confidence: 99%

“…16,30 Several novel disease biomarkers that might aid risk prediction are under study, such as testosterone, BIN-1, soluble ST2 and anti-desmoglein-2 autoantibodies. 64 may provide a means for reducing arrhythmic risk but require sensitive and specific biomarkers of disease activity and therapeutic response.…”

Section: How Can Sudden Cardiac Death Prediction Be Improved In Arrhymentioning

confidence: 99%

Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report

Elliott

Anastasakis

Asimaki

et al. 2019

European J of Heart Fail

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109

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It is 35 years since the first description of arrhythmogenic right ventricular cardiomyopathy (ARVC) and more than 20 years since the first reports establishing desmosomal gene mutations as a major cause of the disease. Early advances in the understanding of the clinical, pathological and genetic architecture of ARVC resulted in consensus diagnostic criteria, which proved to be sensitive but not entirely specific for the disease. In more recent years, clinical and genetic data from families and the recognition of a much broader spectrum of structural disorders affecting both ventricles and associated with a propensity to ventricular arrhythmia have raised many questions about pathogenesis, disease terminology and clinical management. In this paper, we present the conclusions of an expert round table that aimed to summarise the current state of the art in arrhythmogenic cardiomyopathies and to define future research priorities.

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“…A number of studies have reported that carriers of multiple mutations in the same desmosomal gene, or mutations in two or more genes are at higher arrhythmic risk than those with a single mutation 6,55 . It is noteworthy that in a multivariable model analysis, multiple desmosomal gene mutations and male gender resulted independent predictors of life-time major arrhythmic events with a Hazard Ratio (HR) of 2.3 and 2.9, respectively 55 .…”

Section: Selected Topics In Risk Stratification Of Arvc Patientsmentioning

confidence: 99%

Risk Stratification in Arrhythmogenic Right Ventricular Cardiomyopathy

2017

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Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an inherited cardiomyopathy that is characterized by ventricular arrhythmias, and an increased risk of sudden death (SCD). Although structural abnormalities of the right ventricle predominate, it is well recognized that left ventricular involvement is common particularly in advanced disease, and that left dominant forms occur. The pathologic characteristic of ARVC/D is myocyte loss with fibrofatty replacement. Since the first detailed clinical description of the disorder in 1982, significant advances have been made in understanding this disease. Once the diagnosis of ARVC is established, the single most important clinical decision is whether a particular patient’s SCD risk is sufficient to justify placement of an implantable cardioverter defibrillator (ICD). The importance of this decision reflects the fact that ARVC is a common cause of sudden death in young people, and that sudden cardiac death may be the first manifestation of the disease. This decision is particularly important since these are often young patients who are expected to live for many years. While an ICD can save lives in individuals with this disease, it is also well recognized that ICD therapy is associated with both short and long term complications. Decisions regarding placement of an ICD are based on an estimate of a patient’s risk of SCD, as well as their preferences and values. The primary purpose of this article is to provide a review of literature that concerns risk stratification in patients with ARVC and to place this literature into the framework of the three authors considerable lifetime experiences in caring for patients with ARVC. The most important parameters to consider when determining arrhythmic risk include: 1) electrical instability including frequency of PVC’s and sustained VA, 2) proband status, 3) extent of structural disease, 4) cardiac syncope, 5) male gender, 6) the presence of multiple mutations or a mutation in TMEM 43, and 7) the patient’s willingness to restrict exercise and eliminate participation in competitive or endurance exercise.

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Sex hormones affect outcome in arrhythmogenic right ventricular cardiomyopathy/dysplasia: from a stem cell derived cardiomyocyte-based model to clinical biomarkers of disease outcome

Cited by 126 publications

References 42 publications

Sex‐ and age‐based differences in the natural history and outcome of dilated cardiomyopathy

Sex‐ and age‐based differences in the natural history and outcome of dilated cardiomyopathy

Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report

Risk Stratification in Arrhythmogenic Right Ventricular Cardiomyopathy

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