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

TY - JOUR

T1 - Pludselig uventet død--hypertrofisk kardiomyopati--genetisk verificeret ved obduktionen

AU - Larsen, Maiken Kudahl

AU - Banner, Jytte

AU - Jensen, Henrik Kjaerulf

AU - Kristensen, Ingrid Bayer

PY - 2009/9/21

Y1 - 2009/9/21

N2 - 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.

AB - 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.

KW - Adult

KW - Autopsy

KW - Cardiomyopathy, Hypertrophic, Familial

KW - Carrier Proteins

KW - Cause of Death

KW - Death, Sudden, Cardiac

KW - Fatal Outcome

KW - Humans

KW - Male

KW - Mutation

M3 - Tidsskriftartikel

C2 - 19811757

SN - 0041-5782

VL - 171

SP - 2835

EP - 2836

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 39

ER -