Langt QT-syndrom--gener, mekanismer og risici. Indikation for genetisk familieudredning?

TY - JOUR

T1 - Langt QT-syndrom--gener, mekanismer og risici. Indikation for genetisk familieudredning?

AU - Bundgaard, Henning

AU - Havndrup, Ole

AU - Christiansen, Michael

AU - Andersen, Paal Skytt

AU - Jensen, Henrik Kjaerulff

AU - Svendsen, Jesper Hastrup

AU - Kjeldsen, Keld P

N1 - Keywords: Death, Sudden, Cardiac; Genetic Predisposition to Disease; Genetic Testing; Humans; Ion Channels; Long QT Syndrome; Risk Factors; Syncope

PY - 2006

Y1 - 2006

N2 - Inherited long QT syndrome (LQTS) is a cardiac disease characterised by episodes of ventricular tachyarrhythmia, presenting as syncope or sudden death. Untreated, the annual mortality rate is 1-2%. Sudden death has been reported as the first manifestation of the disease in some cases. Therefore, early (pre-symptomatic) diagnosis and management may save lives. However, clinically false negative relatives are also at risk of sudden death. On this basis we conclude assessment of relatives should be extended with genetic testing. Udgivelsesdato: 2006-Jun-26

AB - Inherited long QT syndrome (LQTS) is a cardiac disease characterised by episodes of ventricular tachyarrhythmia, presenting as syncope or sudden death. Untreated, the annual mortality rate is 1-2%. Sudden death has been reported as the first manifestation of the disease in some cases. Therefore, early (pre-symptomatic) diagnosis and management may save lives. However, clinically false negative relatives are also at risk of sudden death. On this basis we conclude assessment of relatives should be extended with genetic testing. Udgivelsesdato: 2006-Jun-26

M3 - Tidsskriftartikel

C2 - 16824406

SN - 0041-5782

VL - 168

SP - 2537

EP - 2542

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 26-32

ER -