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PRKAG2 syndrome, a rare hypertrophic cardiomyopathy: a Brazilian long-term follow-up with extracardiac disorders.

Einstein (Sao Paulo, Brazil) - 1 Jan 2024

van der Steld Lenises de Paula, Rocha Mario de Seixas, Ladeia Ana Marice Teixeira, Livramento Humberto Lago, Campos Gervásio Batista, Darrieux Francisco Carlos da Costa, Campuzano Oscar, Brugada Ramon

Abstract excerpt

OBJECTIVE: This study aimed to provide a long-term follow-up of PRKAG2 syndrome and describe the new phenotypic aspects of the condition. PRKAG2 syndrome is a rare autosomal-dominant glycogen storage disease characterized by cardiac hypertrophy, ventricular pre-excitation, and conduction system disease. Fatal arrhythmias occur frequently. METHODS: A family cohort of 66 participants was recruited. Clinical and...

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AMP-Activated Protein Kinases
Arrhythmias, Cardiac
Brazil
Cardiomyopathy, Hypertrophic
Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39082507
DOI: 10.31744/einstein_journal/2024AO0549
PMCID: PMC11239200

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