Expanding the phenotype of sudden cardiac death-An unusual presentation of a family with a Lamin A/C mutation.
Familial occurrence of sudden cardiac death (SCD) is related to a variety of clinical conditions, which can be delineated in up to 40% of families through a combination of cardiovascular examination and genetic studies. Patients with Lamin A/C gene mutations are at increased risk for SCD, but "laminopathies" are not included into clinical algorithms of SCD. Here we present a family with SCD in the absence of left ventricular dysfunction, related to a Lamin A/C mutation.
De Backer
Julie
J
Van Beeumen
Katarina
K
Loeys
Bart
B
Duytschaever
Mattias
M
D000328:Adult; D016757:Death, Sudden, Cardiac / Q000453:epidemiology; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D006327:Heart Block / Q000235:genetics* / Q000401:mortality; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012307:Risk Factors
C494847:LMNA protein, human; D034904:Lamin Type A