Related Experiment Video
Updated: Oct 7, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Pharmacogenetics in pediatric cardiology
Adenike T Adenikinju1,2,3, Jonathan B Wagner1,2,3, Mollie M Walton1,2,3
1Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Kansas, MO, United States.
Abstract:
Children with congenital and acquired heart disease frequently require complex and prolonged pharmacotherapy, often involving off-label cardiovascular medications with narrow therapeutic ranges. Consequently, variability in drug response and medication-related adverse events remains a significant clinical challenge in pediatric cardiology. Pharmacogenetics provides a framework to individualize drug selection and dosing by incorporating genetic variability alongside established clinical and developmental factors. This review outlines the current clinical utility and emerging role of pharmacogenetics in pediatric cardiology, emphasizing applications most relevant to day-to-day patient care. Established pharmacogenetic associations with direct implications for pediatric cardiac practice include gene-drug pairs involving tacrolimus (CYP3A5), warfarin (CYP2C9, VKORC1, CYP4F2, rs12777823 within the CYP2C), clopidogrel (CYP2C19), flecainide (CYP2D6), metoprolol (CYP2D6), and statins (SLCO1B1, ABCG2, CYP2C9), many of which are supported by guideline-based recommendations from the Clinical Pharmacogenetics Implementation Consortium. This review also highlights pharmacogenetic considerations for commonly prescribed non-cardiac medications that may influence cardiovascular outcomes in children with heart disease, identifies emerging areas for research, and emphasizes that as pharmacogenetic testing becomes increasingly accessible, its thoughtful integration into pediatric cardiology practice may improve therapeutic precision, enhance safety, and reduce preventable adverse drug events.
Related Concept Videos
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics and Pharmacogenomics: Overview
Pharmacogenetics of Drug Metabolism: Overview
Pharmacogenomics: Identification of New Drug Targets
Principles of Pharmacogenetics: Types of Genetic Variants
Pharmacokinetics in Pediatric Patients: Drug Metabolism