Sudden cardiac death in young adults: environmental risk factors and genetic aspects of premature atherosclerosis

Maiken K Larsen; Peter H Nissen; Ingrid B Kristensen; Henrik K Jensen; Jytte Banner

doi:10.1111/j.1556-4029.2011.02028.x

Sudden cardiac death in young adults: environmental risk factors and genetic aspects of premature atherosclerosis

Maiken K Larsen, Peter H Nissen, Ingrid B Kristensen, Henrik K Jensen, Jytte Banner

Afdeling for Retspatologi

15 Citationer (Scopus)

Abstract

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.

Originalsprog	Engelsk
Tidsskrift	Journal of Forensic Sciences
Vol/bind	57
Udgave nummer	3
Sider (fra-til)	658-62
Antal sider	5
DOI	https://doi.org/10.1111/j.1556-4029.2011.02028.x
Status	Udgivet - maj 2012

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10.1111/j.1556-4029.2011.02028.x

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title = "Sudden cardiac death in young adults: environmental risk factors and genetic aspects of premature atherosclerosis",

abstract = "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.",

keywords = "Adolescent, Adult, Apolipoproteins B, Coronary Artery Disease, Coronary Vessels, Death, Sudden, Cardiac, Denmark, Exons, Female, Forensic Genetics, Forensic Pathology, Genetic Testing, Humans, Hyperlipoproteinemia Type II, Hypertension, Introns, Male, Mutation, Myocardial Infarction, Myocardium, Overweight, Polymerase Chain Reaction, Receptors, LDL, Risk Factors, Sequence Analysis, DNA, Young Adult",

author = "Larsen, {Maiken K} and Nissen, {Peter H} and Kristensen, {Ingrid B} and Jensen, {Henrik K} and Jytte Banner",

note = "{\textcopyright} 2011 American Academy of Forensic Sciences.",

year = "2012",

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doi = "10.1111/j.1556-4029.2011.02028.x",

language = "English",

volume = "57",

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TY - JOUR

T1 - Sudden cardiac death in young adults

T2 - environmental risk factors and genetic aspects of premature atherosclerosis

AU - Larsen, Maiken K

AU - Nissen, Peter H

AU - Kristensen, Ingrid B

AU - Jensen, Henrik K

AU - Banner, Jytte

PY - 2012/5

Y1 - 2012/5

N2 - 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.

AB - 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.

KW - Adolescent

KW - Adult

KW - Apolipoproteins B

KW - Coronary Artery Disease

KW - Coronary Vessels

KW - Death, Sudden, Cardiac

KW - Denmark

KW - Exons

KW - Female

KW - Forensic Genetics

KW - Forensic Pathology

KW - Genetic Testing

KW - Humans

KW - Hyperlipoproteinemia Type II

KW - Hypertension

KW - Introns

KW - Male

KW - Mutation

KW - Myocardial Infarction

KW - Myocardium

KW - Overweight

KW - Polymerase Chain Reaction

KW - Receptors, LDL

KW - Risk Factors

KW - Sequence Analysis, DNA

KW - Young Adult

U2 - 10.1111/j.1556-4029.2011.02028.x

DO - 10.1111/j.1556-4029.2011.02028.x

M3 - Journal article

C2 - 22220933

SN - 0022-1198

VL - 57

SP - 658

EP - 662

JO - Journal of Forensic Sciences

JF - Journal of Forensic Sciences

IS - 3

ER -

Sudden cardiac death in young adults: environmental risk factors and genetic aspects of premature atherosclerosis

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