Sudden cardiac death in young adults: environmental risk factors and genetic aspects of premature atherosclerosis.
Familial hypercholesterolemia (FH) is a genetic disorder that may lead to premature coronary heart disease (CHD) and sudden cardiac death (SCD). Mutations in the LDLR or APOB genes cause FH. We have screened the LDLR and the ligand-binding region of APOB genes in 52 cases of SCD. Deceased patients were younger than 40 years of age and were suspected of having FH. The LDLR and APOB genes were examined via PCR, high-resolution melting, and DNA sequencing. Therein, it was observed that 7.7% of the screened patients exhibited a rare sequence variant in the LDLR gene, with 5.7% suspected of being pathogenic mutations. Lipid profiles and genetic testing for FH could be considered when autopsy reveals significant atherosclerosis of the coronary arteries in young adults. First-degree family members are advised to seek medical advice and testing to determine their own risks of atherosclerosis to prevent premature CHD and SCD.
Department of Forensic Medicine, Faculty of Health Sciences, Aarhus University, Brendstrupgaardsvej 100, 8200 Aarhus N, Denmark. ml@forensic.au.dk
Maiken K
MK
Larsen
Peter H
PH
Nissen
Ingrid B
IB
Kristensen
Henrik K
HK
Jensen
Jytte
J
Banner
D000293:Adolescent; D000328:Adult; D001055:Apolipoproteins B / Q000235:genetics*; D003324:Coronary Artery Disease / Q000235:genetics* / Q000473:pathology*; D003331:Coronary Vessels / Q000473:pathology; D016757:Death, Sudden, Cardiac / Q000209:etiology*; D003718:Denmark; D005091:Exons; D005260:Female; D053803:Forensic Genetics; D049429:Forensic Pathology; D005820:Genetic Testing; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D006973:Hypertension / Q000453:epidemiology; D007438:Introns; D008297:Male; D009154:Mutation; D009203:Myocardial Infarction / Q000473:pathology; D009206:Myocardium / Q000473:pathology; D050177:Overweight / Q000453:epidemiology; D016133:Polymerase Chain Reaction; D011973:Receptors, LDL / Q000235:genetics*; D012307:Risk Factors; D017422:Sequence Analysis, DNA; D055815:Young Adult
D001055:Apolipoproteins B; C573412:LDLR protein, human; D011973:Receptors, LDL