December 17, 2001Circulation

Novel PRKAG2 Mutation Responsible for the Genetic Syndrome of Ventricular Preexcitation and Conduction System Disease With Childhood Onset and Absence of Cardiac Hypertrophy

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Population

Family members with a syndrome of ventricular preexcitation, atrial fibrillation, conduction defects, and…

Comparison

Genetic sequencing of the PRKAG2 gene. vs 150 unrelated individuals.

Design

Other

Authors

MGMichael H. GollobElectrophysiology JSJohn J. SegerHouston Methodist TGTanya N. GollobBaylor College of Medicine

Discussion

Member takes

Implication

Hypothesis-generating for PRKAG2 screening in familial non-hypertrophic WPW; requires functional validation and larger cohorts.

Structured PICO

Population

Family members with a syndrome of ventricular preexcitation, atrial fibrillation, conduction defects, and absence of cardiac hypertrophy, along with 150 unrelated control individuals.

Intervention

Genetic sequencing of the PRKAG2 gene.

Comparator

150 unrelated individuals.

Outcome

Identification of genetic mutations in the PRKAG2 gene responsible for the syndrome.surrogate

Identifies a novel PRKAG2 mutation (Arg531Gly) responsible for childhood-onset Wolff-Parkinson-White syndrome and conduction disease without cardiac hypertrophy, highlighting AMPK's role in cardiac ion channel regulation.

Cite This Study

Gollob et al. (2001) studied this question.

synapsesocial.com/papers/6a7e1bd2c803bc23e22354fe https://doi.org/10.1161/hc5001.102111

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Novel PRKAG2 Mutation Responsible for the Genetic Syndrome of Ventricular Preexcitation and Conduction System Disease With Childhood Onset and Absence of Cardiac Hypertrophy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Novel PRKAG2 Mutation Responsible for the Genetic Syndrome of Ventricular Preexcitation and Conduction System Disease With Childhood Onset and Absence of Cardiac Hypertrophy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider