1 results
10/Jul/2024
DOI: 10.31744/einstein_journal/2024AO0549
Highlights PRKAG2 syndrome is a rare autosomal dominant glycogen storage disease characterized by cardiac hypertrophy, ventricular pre-excitation, and conduction system disease. The rare variant p.K291I in PRKAG2 is associated with poor prognosis, highlighting the need for early intervention. Early diagnosis and intervention using antiarrhythmic drugs, anticoagulants, pacemaker implantation, radiofrequency catheter ablation, and cesarean surgery may improve symptoms and survival rates. The potential connections among intellectual disability, miscarriages, and neonatal deaths in individuals with this syndrome should be further investigated. ABSTRACT […]
Keywords: Activated protein kinases/genetics; Death; Left ventricle; Mutation hypertrophy; Sudden cardiac; Wolff-Parkinson-White syndrome