Role of genetic testing in young patients with idiopathic atrioventricular conduction disease.
Angelo AuricchioAndrea DemarchiTardu ÖzkartalDaniela CampanaleMaria Luce CaputoMarcello Di ValentinoAndrea MenafoglioFrancois RegoliMarco FacchiniAlessandro Del BufaloPietro FogliaNicola FerrariFulvio BomioArgelia Medeiros-DomingoTiziano MoccettiGiovanni B PedrazziniCatherine KlersyGiulio ContePublished in: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology (2022)
Idiopathic AVB in adults younger than 50 years is a very rare condition with an incidence of 0.7 per 100 000 persons/year. Systematic investigations, including genetic testing and ajmaline challenge, can lead to the achievement of a specific diagnosis in up to 20% of patients. Heterozygous missense variant c.2531G > A p.(Gly844Asp) in TRPM4 gene was found in an additional 20% of unrelated patients, suggesting possible association of the variant with the disease.