Arrhythmogenic right ventricular cardiomyopathy

Basso, Cristina; Corrado, Domenico; Marcus, Frank I.; Nava, Andrea; Thiene, Gaetano

doi:10.1016/s0140-6736(09)60256-7

Cited by 785 publications

(567 citation statements)

References 98 publications

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“…Among patients with ARVD, up to 25–45% harbor mutations in PKP2 [1,3,5,7,8,9,11,12,13]. Plakophilin-2 binds desmosomal transmembrane proteins and desmoplakin, which anchors cytosolic intermediate filaments to the desmosome [1,14]. Plakophilin-2 belongs to the armadillo subfamily of proteins, which consist of an amino-terminal head group and 10 related, short amino acid repeat units (arm units) and a carboxy-terminal domain [14].…”

Section: Discussionmentioning

confidence: 99%

“…Arrhythmogenic right ventricular dysplasia (ARVD), also known as arrhythmogenic right ventricular cardiomyopathy, is a common cause of sudden cardiac death in young people [1,2]. The pathognomonic hallmark of ARVD is the replacement of cardiomyocytes with fat and fibrous tissues, typically in the right ventricle [1].…”

Section: Introductionmentioning

confidence: 99%

“…The pathognomonic hallmark of ARVD is the replacement of cardiomyocytes with fat and fibrous tissues, typically in the right ventricle [1]. ARVD is an autosomal dominant genetic disorder affecting a number of genes encoding the components of the cardiac desmosome complexes that mediate cell-to-cell attachments.…”

Section: Introductionmentioning

confidence: 99%

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Familial Evaluation for Diagnosis of Arrhythmogenic Right Ventricular Dysplasia

Palmisano

Rottman²,

Wells³

et al. 2011

Cardiology

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Most sudden cardiac deaths in young athletes are caused by previously undetected inherited cardiac diseases. Here, we report a case of a young male athlete in whom a presumptive diagnosis of hypertrophic cardiomyopathy (HCM) was made following a near sudden cardiac death. Although his imaging studies initially suggested HCM, a detailed clinical and genetic evaluation of the patient and his asymptomatic father led to the diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVD) in both. DNA sequencing revealed that each individual was heterozygous for two rare variants in the PKP2 and DSC2 genes, both of which were previously shown to be associated with ARVD and to encode desmosomal proteins, i.e. the previously reported splicing variant c2489 + 1A>G in the PKP2 gene and the novel p.I109M variant in the DSC2 gene. Imaging and electrophysiologic studies further supported a diagnosis of ARVD in the father. This case highlights the importance of detailed clinical evaluation and genetic testing of family members when dealing with sudden cardiac death or unexplained cardiomyopathies in the young.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Familial Evaluation for Diagnosis of Arrhythmogenic Right Ventricular Dysplasia

Palmisano

Rottman²,

Wells³

et al. 2011

Cardiology

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“…Combined endocardial–epicardial VT ablation has had significant short- and long-term success rates compared to endocardial VT ablation alone [22,49]. VT recurrence following VT ablation could be explained by the patchy nature of ARVC; hence, development of new arrhythmic foci is not infrequent [32,50,51]. Therefore, RFA is currently not recommended as stand-alone therapy or as an alternative to ICD for ARVC patients due the progressive nature of ARVC (class III) [22].…”

Section: Radiofrequency Ablationmentioning

confidence: 99%

Right ventricular dysplasia: management and treatment in light of current evidence

Idris

Shah

Park

2018

Journal of Community Hospital Internal Medicine Perspectives

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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare cardiovascular disease that predisposes to ventricular arrhythmias potentially leading to sudden cardiac death (SCD). ARVC varies considerably with multiple clinical presentations, ranging from no symptoms to cardiac arrhythmias to SCD. ARVC prevalence is not well known, but the estimated prevalence in the general population is 1:5000. Diagnosis of ARVC can be made by using the Revised European Society of Cardiology criteria for ARVC that includes ventricular structural and functional changes, ECG abnormalities, arrhythmias, family and genetic factors. The management of ARVC is focused on prevention of lethal events such as SCD. Implantable cardioverter defibrillator placement is the only proven mortality benefit in treatment of ARVC. Other treatment strategies include medications such as beta blockers and antiarrhythmics, radiofrequency ablation, surgery, cardiac transplantation, and lifestyle changes. All these interventions help in symptomatic treatment but none of them have proved to decrease mortality rates. ARVC is a progressive disease that leads to SCD if not treated appropriately. Management of these diseases has been a challenge for physicians. With the advent of technology and many new drugs/devices under clinical investigation, this might change in the future. However, while advances in technologies have helped elucidate many aspects of these diseases, many mysteries still remain of this unique disease. With continued research, we can expect more cost-effective and patient-friendly drug therapies and ablation techniques to be developed in the near future.

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“…Fax: 56-32-2658527 diaz.rienzi@gmail.com L a displasia arritmogénica del ventrículo derecho (DAVD) es una miocardiopatía hereditaria y progresiva que compromete principalmente el ventrículo derecho (VD) [1][2][3] , pero también puede afectar el ventrículo izquierdo (VI) aumentando su severidad 1,2,4,5 . Histopatológica-mente se caracteriza por reemplazo fibrograso del tejido miocardio que produce un daño estructural progresivo 4,6 , manifestado comúnmente por taquicardia ventricular (TV) y muerte súbita 4,7 .…”

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