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Pludselig uventet død--hypertrofisk kardiomyopati--genetisk verificeret ved obduktionen

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • Maiken Kudahl Larsen
  • Banner, Jytte
  • Henrik Kjaerulf Jensen
  • Ingrid Bayer Kristensen
Hypertrophic cardiomyopathy (HCM) may have sudden death as its first presentation. This case presentation describes a 25-year-old man with post-mortem finding of previously unknown left ventricular hypertrophy. Genetic analysis revealed a mutation in the myosin-binding protein C (MYBPC3). Autopsy combined with molecular genetic screening for mutations may give the relatives certainty of cause of death and the opportunity for genetic screening for diagnosis and treatment as well as prevention of sudden cardiac death.
OriginalsprogDansk
TidsskriftUgeskrift for Laeger
Vol/bind171
Udgave nummer39
Sider (fra-til)2835-6
Antal sider2
ISSN0041-5782
StatusUdgivet - 21 sep. 2009

    Forskningsområder

  • Adult, Autopsy, Cardiomyopathy, Hypertrophic, Familial, Carrier Proteins, Cause of Death, Death, Sudden, Cardiac, Fatal Outcome, Humans, Male, Mutation

ID: 46809087