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Genomet i kardiologien

Henning Bundgaard1, Birgitte Rode Diness2, Jacob Tfelt-Hansen1, Finn Lund Henriksen3, Ole Eschen4, Flemming Skovby2, Ole Havndrup5, Henrik Kjærulf Jensen6 & Anne Tybjærg-Hansen7 1) Rigshospitalets Enhed for Arvelige Hjertesygdomme (REAH), Hjertecentret, Rigshospitalet 2) Klinisk Genetisk Afdeling, Rigshospitalet 3) Kardiologisk Afdeling B, Odense Universitetshospital 4) Kardiologisk Afdeling, Aalborg Universitetshospital 5) Kardiologisk Afdeling, Roskilde Sygehus 6) Kardiologisk Afdeling, Aarhus Universitetshospital 7) Klinisk Biokemisk Afdeling, Rigshospitalet Ugeskr Læger 2014;176:V06140376
Ugeskr Læger 2014;176:V06140376
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The genome and sudden cardiac death
Several cardiac diseases are autosomal dominantly inherited. This includes cardiomyopathies, primary arrhythmias (channelopathies), dyslipidaemias, premature ischaemic heart diseases and diseases of the thoracic aorta. Sudden cardiac death in the young is also often due to one of the inherited cardiac diseases. Clinical and genetic cascade family screening of the relatives to patients with inherited cardiac diseases is now organized in a national network of centres of cardiology, sharing pedigrees, clinical and genetic information. This gives unique opportunities for offering focused prophylaxis in the group of high risk relatives.
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