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Genetisk veiledning ved medfödt lang QT-syndrom
Engelsk titel: Genetic counseling in congenital long QT syndrome Läs online Författare: Hamang A ; Solberg B ; Bjorvatn C ; Greve G ; Öyen N Språk: Nor Antal referenser: 20 Dokumenttyp: Fallbeskrivning UI-nummer: 09061925

Tidskrift

Tidsskrift for Den Norske Laegeforening 2009;129(12)1226-9 ISSN 0029-2001 E-ISSN 0807-7096 KIBs bestånd av denna tidskrift Denna tidskrift är expertgranskad (Peer-Reviewed)

Sammanfattning

Background. Long QT syndrome is an inherited heart-rhythm disorder characterized by an increased risk of ventricular tachycardia and sudden death. Genetic testing is available. Material and methods. The article is based on an anonymous family with a history of long QT syndrome, the authors experience with this patient group and a Pubmed search for literature from the period 1957 - 2007. Results. An 8-year-old boy suffers syncope at a sports event, and this leads to genetic counseling and molecular genetic testing of his first-and second-degree relatives. Knowledge about genetic risk of sudden death in a family can trigger genetic testing and health preventive treatment of children, but can also have substantial psychosocial and ethical consequences for the family and for the health-care personnel involved. Interpretation. Living with a genetic risk can be very emotionally challenging for the individuals and families, and «The Norwegian Act of Biotechnology in Human Medicine, etc» that regulates clinical genetic activities is extensive. An important question is whether the current Act allows communication of genetic information to persons other than the patient.