2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-IMPORTANCE OF THE DETECTION OF GENETIC DISEASES ASSOCIATED WITH CARDIOVASCULAR RISK IN PEDIATRIC AGE

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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

Therapy

Risk Assessment

Pathology

Pathogenesis

NextGen Sequencing

Molecular Pathophysiology

Metabolic Disorder

Inheritance Patterns

Identification of Disease Genes

Genetic Testing

Counseling

Congenital Anomaly

Clinical History

Cardiovascular System

Cardiac/circulatory disorders

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