| Autor: |
Resdal Dyssekilde J; Department of Cardiology Aarhus University Hospital Aarhus Denmark., Frederiksen TC; Department of Cardiology Aarhus University Hospital Aarhus Denmark.; Department of Clinical Medicine Health Aarhus University Aarhus Denmark., Christiansen MK; Department of Cardiology Aarhus University Hospital Aarhus Denmark., Hasle Sørensen R; Department of Molecular Medicine Aarhus University Hospital Aarhus Denmark., Pedersen LN; Department of Molecular Medicine Aarhus University Hospital Aarhus Denmark., Loof Møller P; Department of Biomedicine Health Aarhus University Aarhus Denmark., Christensen LS; Department of Cardiology Hospital of Southern Jutland Aabenraa Denmark., Larsen JM; Department of Cardiology Aalborg University Hospital Aalborg Denmark., Thomsen KK; Department of Cardiology Hospital South West Jutland Esbjerg Denmark., Lindhardt TB; Department of Cardiology Copenhagen University HospitalHerlev and Gentofte Hospital Hellerup Denmark., Böttcher M; Department of Cardiology Regional Hospital Herning Herning Denmark., Molsted S; Department of Clinical Research North Zealand Hospital Hillerød Denmark., Havndrup O; Department of Cardiology Zealand University Hospital Roskilde Denmark., Fischer T; Department of Cardiology Vejle Hospital Vejle Denmark., Møller DS; Department of Cardiology Regional Hospital Central Jutland Viborg Denmark., Henriksen FL; Department of Cardiology Odense University Hospital Odense Denmark., Johansen JB; Department of Cardiology Odense University Hospital Odense Denmark., Nielsen JC; Department of Cardiology Aarhus University Hospital Aarhus Denmark.; Department of Clinical Medicine Health Aarhus University Aarhus Denmark., Bundgaard H; Department of Cardiology The Heart Center Rigshospitalet Copenhagen Denmark.; Department of Clinical Medicine University of Copenhagen Denmark., Nygaard M; Department of Biomedicine Health Aarhus University Aarhus Denmark.; Department of Health Science and Technology Aalborg Denmark., Jensen HK; Department of Cardiology Aarhus University Hospital Aarhus Denmark.; Department of Clinical Medicine Health Aarhus University Aarhus Denmark. |
| Abstrakt: |
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. |
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