Advances in the Diagnosis and Management of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Abstract

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy characterized by ventricular arrhythmias, right ventricular dysfunction, and sudden cardiac death. Since the first description of ARVD/C in 1982, there have been major advances in the diagnosis and management of the disease. For instance, the discovery of desmosomal abnormalities as a genetic basis for ARVD/C; the importance of proband status and ventricular ectopy for risk stratification of patients at risk for sudden cardiac death; and the critical role that exercise plays in the development and progression of ARVD/C, just to name a few. From a treatment perspective, the placement of implantable cardioverter defibrillators in those at risk for sudden cardiac death and ablation techniques have also evolved over time. In 2010, an update of the 1994 Task Force Diagnostic criteria for ARVD/C was published with the hope to increase diagnostic sensitivity. This update incorporates new knowledge and technology to assess structural cardiac abnormalities and is the standard for diagnosis today.

Malignant Arrhythmia with Variants of Desmocollin-2 and Desmoplakin Genes

“…Prior studies have proved that genetic defects can be validated in 40% of cases. 14) According to clinical research, VARIANTS OF DESMOCOLLIN-2 AND DESMOPLAKIN GENES the prevalence of ARVC is estimated from 1:2000 to 1: 5000 in the general population. 15) ARVC can be divided into four phases: early hidden phase, overt electrical disorder phase, right ventricular failure phase, and biventricular failure phase.…”

Displasia arritmogénica del ventrículo derecho

“…4 Por lo tanto, la falta de la mutación en una proteína no excluye la enfermedad. 8 En general, la función de los desmosomas es formar puentes entre células y filamentos intermedios o entre células cardiacas, siendo importantes también en la transducción de señales vía Wnt-BetaCatenina. 1 A partir de su función se tienen dos modelos de generación de la displasia arritmogénica del ventrículo derecho: el de degeneracion-inflamacion (MDI) y el modelo de transdiferenciacion (MT).…”

“…10 En pacientes con bajo riesgo o asintomáticos se recomienda terapia farmacológica con betabloqueadores. 8 Cuando hay falla terapéutica en caso de arritmias o insuficiencia cardiaca congestiva, el trasplante cardiaco es considerado la única opción terapéutica. 2 Por último, podemos decir que la DAVD es una entidad de difícil diagnóstico, que al parecer es más frecuente de lo que se aprecia, cada vez con mayor número de casos reportados.…”

Cardiac magnetic resonance imaging: Which information is useful for the arrhythmologist?

“…The desmosomal complex, situated in the cardiac intercalated disk, is responsible for tissue strength and stability, binding cells to one another. Consequently, a defective desmosomal complex can cause cell loss with fibro-fatty tissue replacement[ 58 - 60 ]. In its most common form the disease affects the right ventricle, but in a minority of patients it may affect both ventricles or only the left ventricle, thus supporting the use of the more general term AC[ 54 , 55 ].…”