Genetics in arrhythmogenic cardiomyopathies: where are we now and where are we heading to?

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Tác giả: Lucia Coppini, Deni Kukavica, Andrea Mazzanti, Carlo Napolitano, Valerio Pergola, Gianluca Pili, Silvia G Priori, Gabriele G Scilabra, Erika Tempo, Alessandro Trancuccio

Ngôn ngữ: eng

Ký hiệu phân loại: 636.0885 Animal husbandry

Thông tin xuất bản: England : European heart journal supplements : journal of the European Society of Cardiology , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 237365

Advances in understanding the genetic architecture and novel imaging techniques have profoundly impacted research on arrhythmogenic right ventricular cardiomyopathy (ARVC). As knowledge of ARVC has evolved, so has its classification: originally termed "arrhythmogenic right ventricular dysplasia", it was later broadened to "arrhythmogenic cardiomyopathy" (ACM) to include left ventricular forms. However, the 2023 European Society of Cardiology guidelines advocate reintroducing ARVC for fibro-fatty right ventricular disease and adopting "non-dilated left ventricular cardiomyopathy" for left-sided phenotypes previously labelled as ACM variants. Genetic testing has become critical in ARVC diagnosis, particularly for identifying mutations in desmosomal genes (e.g.,
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