RT journal article
T1 Appropriate time interval to update ambiguous genetic diagnosis in inherited arrhythmogenic syndromes
A1 Martínez  Barrios, Estefanía
A1 Greco, Andrea
A1 Cesar, Sergi
A1 Díez-López, Carles
A1 Cruzalegui, José
A1 Díez Escuté, Nuria
A1 Cerralbo, Patricia
A1 Chipa, Fredy
A1 Zschaeck, Irene
A1 Grassi, Simone
A1 Oliva, Antonio
A1 Balderrábano, Norma
A1 Toro Cebada, Rocío
A1 Sarquella-Brugada, Georgia
A1 Campuzano, Oscar
A2 Cirugía
A2 Medicina
K1 Cardiovascular medicine
K1 Human genetics
AB Genetic analysis identified the cause of the disease in inherited arrhythmogenic syndromes. A clinically actionable genetic diagnosis requires an accurate interpretation following the current guidelines. Practically half of the genetic diagnoses remain inconclusive due to the identification of variants of uncertain significance. An update can help shed light on uncertain results. No specific time frame has been set for updating an ambiguous diagnosis. We carried out an analysis of the available reclassification/reinterpretation data concerning genetic diagnosis in inherited arrhythmogenic syndromes. We aim to determine an appropriate interval for updating a conclusive classification. Genetic diagnoses achieved without following current guidelines should be updated immediately. An ambiguous result obtained following the current guidelines should be updated no more than 5 years after the first analysis. There are still questions to be resolved regarding the legal responsibility or who should assume the economic cost of updating a genetic diagnosis.
PB Elsevier Inc.
SN 2589-0042
YR 2025
FD 2025
LK http://hdl.handle.net/10498/37929
UL http://hdl.handle.net/10498/37929
LA eng
DS Repositorio Institucional de la Universidad de Cádiz
RD 08-nov-2026