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2023 ACMG Annual Clinical Genetics Meeting Digital ...
IMPORTANCE OF THE DETECTION OF GENETIC DISEASES AS ...
IMPORTANCE OF THE DETECTION OF GENETIC DISEASES ASSOCIATED WITH CARDIOVASCULAR RISK IN PEDIATRIC AGE
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Pdf Summary
This case report discusses the importance of detecting genetic diseases associated with cardiovascular risk in the pediatric population, specifically familial hypercholesterolemia (FH). FH is an autosomal dominant disease characterized by high levels of LDL cholesterol, which can lead to early onset of atherosclerosis and cardiovascular events. The report presents the case of an asymptomatic adolescent with a family history of cardiovascular disease and hyperlipidemia. Genetic testing using NGS+CNVs methodology revealed pathogenic variants in the LDLR and LDLRAP1 genes, both associated with FH. <br /><br />The hereditary pattern of FH can be homozygous (HoFH) or heterozygous (HeFH), with the most common cause being variants in the LDLR gene. HeFH has a prevalence of 1 per 311-313 people, estimated to affect 6.8-8.5 million children and adolescents worldwide. The prevalence in Colombia is estimated to be between 96,000-240,000.<br /><br />Early identification of FH allows for anticipatory, preventive, and targeted treatment, as well as genetic counseling and screening of relatives. This approach can help reduce morbidity and mortality in the pediatric population. The report also includes figures showing the results of sequencing and expression networks of genes associated with FH in the patient.<br /><br />In conclusion, detecting genetic diseases associated with cardiovascular risk, such as FH, in the pediatric population is crucial for early intervention and prevention. It allows for personalized treatment and genetic counseling to reduce the impact of the disease on morbidity and mortality.
Asset Subtitle
Co-Author - Juan Manuel Sanchez-Vargas, MD; Presenting Author - Lina J. Moreno-Giraldo, MD, MSc, PhD;
Meta Tag
Cardiac/circulatory disorders
Cardiovascular System
Clinical History
Congenital Anomaly
Counseling
Genetic Testing
Identification of Disease Genes
Inheritance Patterns
Metabolic Disorder
Molecular Pathophysiology
NextGen Sequencing
Pathogenesis
Pathology
Risk Assessment
Therapy
Co-Author
Juan Manuel Sanchez-Vargas, MD
Presenting Author
Lina J. Moreno-Giraldo, MD, MSc, PhD
Keywords
genetic diseases
cardiovascular risk
pediatric population
familial hypercholesterolemia
LDL cholesterol
genetic testing
LDLR gene
prevalence
morbidity and mortality
early intervention
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