Cardiac phenotype and long-term prognosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia patients with late presentation

Bhonsale, Aditya; Riele, Anneline S.J.M. te; Sawant, Abhishek C.; Groeneweg, Judith A.; James, Cynthia A.; Murray, Brittney; Tichnell, Crystal; Mast, Thomas P.; Pols, M. J. van der; Dooijes, Dennis; Heijden, Jeroen F. van der; Tandri, Harikrishna; Tintelen, J. Peter van; Judge, Daniel P.; Hauer, Richard N.W.; Calkins, Hugh

doi:10.1016/j.hrthm.2017.02.013

Cited by 58 publications

(32 citation statements)

References 33 publications

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“…64 Whereas adult patients more often present with sustained VT, paediatric patients are more likely to experience SCD or resuscitated sudden cardiac arrest. 45,63,65 Sudden cardiac death may be the first clinical manifestation of the disease, as it was reported by a study in the Veneto region of Italy, where 20% of SCD in young people and athletes were caused by previously undiagnosed ARVC. 66 The diagnosis of ARVC is particularly challenging in children <14 years of age.…”

Section: Diagnosis Of Arrhythmogenic Right Ventricular Cardiomyopathymentioning

confidence: 89%

Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis

Anastastakis

Asimaki

Basso

et al. 2019

European Heart Journal

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Section: Diagnosis Of Arrhythmogenic Right Ventricular Cardiomyopathymentioning

confidence: 89%

Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis

Anastastakis

Asimaki

Basso

et al. 2019

European Heart Journal

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270

154

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“…It is rare for patients with ARVC to have clinical signs or symptoms of ARVC prior to 12 years of age. It is also uncommon to first develop signs or symptoms of ARVC after the age of 60 years 10, 14, 16 . Symptoms are largely due to the presence of ventricular arrhythmias.…”

Section: Arvcmentioning

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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“…Bhonsale et al demonstrated that AC patients experiencing VF and SCD were significantly younger (median age 23 years) than those presenting with sustained monomorphic VTs (median age 36 years) [47]. A subsequent study by the same group showed that in patients with late presentation (>50 years) sustained VT was the predominant arrhythmic event, in contrast to the young people, in whom VF was more common [48]. A pathobiological explanation of this particular age-related arrhythmic behavior may be due to the progressive nature of the disease, which modifies the myocardial lesions over time.…”

Section: Age-related Arrhythmic Manifestationsmentioning

confidence: 99%

“…Interesting age-related differences in arrhythmic manifestations have been observed and should be taken in mind while evaluating AC patients [44,47,48]. Cardiac arrest by ventricular fibrillation (VF) is mostly reported during the earlier phases of AC, whereas sustained VTs occur more commonly later in the disease course.…”

Section: Age-related Arrhythmic Manifestationsmentioning

confidence: 99%

Natural History of Arrhythmogenic Cardiomyopathy

Mattesi

Zorzi

Corrado

et al. 2020

JCM

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Arrhythmogenic cardiomyopathy (AC) is a heart muscle disease characterized by a scarred ventricular myocardium with a distinctive propensity to ventricular arrhythmias (VAs) and sudden cardiac death, especially in young athletes. Arrhythmogenic right ventricular cardiomyopathy (ARVC) represents the best characterized variant of AC, with a peculiar genetic background, established diagnostic criteria and management guidelines; however, the identification of nongenetic causes of the disease, combined with the common demonstration of biventricular and left-dominant forms, has led to coin the term of “arrhythmogenic cardiomyopathy”, to better define the broad spectrum of the disease phenotypic expressions. The genetic basis of AC are pathogenic mutations in genes encoding the cardiac desmosomes, but also non-desmosomal and nongenetic variants were reported in patients with AC, some of which showing overlapping phenotypes with other non-ischemic diseases. The natural history of AC is characterized by VAs and progressive deterioration of cardiac performance. Different phases of the disease are recognized, each characterized by pathological and clinical features. Arrhythmic manifestations are age-related: Ventricular fibrillation and SCD are more frequent in young people, while sustained ventricular tachycardia is more common in the elderly, depending on the different nature of the myocardial lesions. This review aims to address the genetic basis, the clinical course and the phenotypic variants of AC.

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Cardiac phenotype and long-term prognosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia patients with late presentation

Cited by 58 publications

References 33 publications

Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis

Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis

Risk Stratification in Arrhythmogenic Right Ventricular Cardiomyopathy

Natural History of Arrhythmogenic Cardiomyopathy

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