PRKAG2 syndrome, a rare hypertrophic cardiomyopathy: a Brazilian long-term follow-up with extracardiac disorders.
Lenises de Paula van der SteldMário de Seixas RochaAna Marice Teixeira LadeiaHumberto Lago LivramentoGervásio Batista CamposFrancisco Carlos da Costa DarrieuxÒscar CampuzanoRamón BrugadaPublished in: Einstein (Sao Paulo, Brazil) (2024)
This study identified that the p.K291I_PRKAG2 mutation is associated with poor prognosis, highlighting the need for early intervention. Further research may uncover the potential connections between intellectual disability, miscarriage, and neonatal death in individuals with this syndrome.