A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations

Background. PRKAG2 is a rare autosomal dominant syndrome that mainly presents with hypertrophic cardiomyopathy, ventricular preexcitation, and conduction abnormalities. This case report demonstrates that the PRKAG2 mutation presents with various phenotypes already in pediatric patients. Case Summary...

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Bibliographic Details
Main Authors: Anita Sri, Piers Daubeney, Sanjay Prasad, John Baksi, Maria Kinali, Inga Voges
Format: Article
Language:English
Published: Hindawi Limited 2019-01-01
Series:Case Reports in Pediatrics
Online Access:http://dx.doi.org/10.1155/2019/7640140