Pludselig uventet død--hypertrofisk kardiomyopati--genetisk verificeret ved obduktionen
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Pludselig uventet død--hypertrofisk kardiomyopati--genetisk verificeret ved obduktionen. / Larsen, Maiken Kudahl; Banner, Jytte; Jensen, Henrik Kjaerulf; Kristensen, Ingrid Bayer.
I: Ugeskrift for Laeger, Bind 171, Nr. 39, 21.09.2009, s. 2835-6.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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
VL - 171
SP - 2835
EP - 2836
JO - Ugeskrift for Laeger
JF - Ugeskrift for Laeger
SN - 0041-5782
IS - 39
ER -
ID: 46809087