Diagnostic Yield of Genetic Testing in Young Patients With Atrioventricular Block of Unknown Cause

Johnni Resdal Dyssekilde, Tanja Charlotte Frederiksen*, Morten Krogh Christiansen, Rikke Hasle Sørensen, Lisbeth Nørum Pedersen, Peter Loof Møller, Lene Svendstrup Christensen, Jacob Moesgaard Larsen, Kristian Korsgaard Thomsen, Tommi Bo Lindhardt, Morten Böttcher, Stig Molsted, Ole Havndrup, Thomas Fischer, Dorthe Svenstrup Møller, Finn Lund Henriksen, Jens Brock Johansen, Jens Cosedis Nielsen, Henning Bundgaard, Mette NygaardHenrik Kjærulf Jensen

*Corresponding author af dette arbejde

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review


Background The cause of atrioventricular block (AVB) remains unknown in approximately half of young patients with the diagnosis. Although variants in several genes associated with cardiac conduction diseases have been identified, the contribution of genetic variants in younger patients with AVB is unknown. Methods and Results Using the Danish Pacemaker and Implantable Cardioverter Defibrillator (ICD) Registry, we identified all patients younger than 50 years receiving a pacemaker because of AVB in Denmark in the period from January 1, 1996 to December 31, 2015. From medical records, we identified patients with unknown cause of AVB at time of pacemaker implantation. These patients were invited to a genetic screening using a panel of 102 genes associated with inherited cardiac diseases. We identified 471 living patients with AVB of unknown cause, of whom 226 (48%) accepted participation. Median age at the time of pacemaker implantation was 39 years (interquartile range, 32-45 years), and 123 (54%) were men. We found pathogenic or likely pathogenic variants in genes associated with or possibly associated with AVB in 12 patients (5%). Most variants were found in the LMNA gene (n=5). LMNA variant carriers all had a family history of either AVB and/or sudden cardiac death. Conclusions In young patients with AVB of unknown cause, we found a possible genetic cause in 1 out of 20 participating patients. Variants in the LMNA gene were most common and associated with a family history of AVB and/or sudden cardiac death, suggesting that genetic testing should be a part of the diagnostic workup in these patients to stratify risk and screen family members.

TidsskriftJournal of the American Heart Association
StatusUdgivet - maj 2022


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