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PRKAG2 syndrome, a rare hypertrophic cardiomyopathy: a Brazilian long-term follow-up with extracardiac disorders
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.
Afiliação
  • van der Steld, Lenises de Paula; Escola Bahiana de Medicina e Saúde Pública. Salvador. BR
  • Rocha, Mario de Seixas; Escola Bahiana de Medicina e Saúde Pública. Salvador. BR
  • Ladeia, Ana Marice Teixeira; Escola Bahiana de Medicina e Saúde Pública. Salvador. BR
  • Livramento, Humberto Lago; Universidade Federal da Bahia. Salvador. BR
  • Campos, Gervásio Batista; Universidade Federal da Bahia. Salvador. BR
  • Darrieux, Francisco Carlos da Costa; Universidade de São Paulo. Faculdade de Medicina. Instituto do Coração. São Paulo. BR
  • Campuzano, Oscar; University of Girona. School of Medicine. Medical Science Department. Girona. ES
  • Brugada, Ramon; University of Girona. School of Medicine. Medical Science Department. Girona. ES
Einstein (São Paulo, Online) ; 22: eAO0549, 2024. tab, graf
Article em En | LILACS-Express | LILACS | ID: biblio-1564515
Biblioteca responsável: BR1.1
Localização: 2317-6385-eins-22-eAO0549.xml
ABSTRACT
ABSTRACT 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 genetic analyses were performed. Results Median age of 36.97±17.28 years, with 69.9% being men. Nineteen subjects carried the deleterious variant p.K290I of the PRKAG2 gene. This group experienced many malignant events, including eight pacemaker implants, three sudden cardiac deaths, five aborted cardiac arrests, four strokes, four premature neonatal deaths, two spontaneous abortions, five forceps deliveries, and 12 cesarean procedures. Extracardiac involvement, such as in neurocognitive and psychiatric disorders, has been observed only in carriers of mutations. Palpitations, Syncope, atrial fibrillation, atrial flutter, sinus pauses, and bradycardia were strongly and significantly associated with major or severe adverse events (sudden cardiac death, aborted cardiac arrest, pacemaker use, stroke, and congestive heart failure). Early diagnosis and intervention through antiarrhythmic drugs, anticoagulation, pacemaker implantation, radiofrequency catheter ablation, and cesarean section surgery improved the symptoms and survival rates. Mutations carriers were advised to avoid pregnancy. Conclusion 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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: LILACS País/Região como assunto: America do sul / Brasil Idioma: En Revista: Einstein (São Paulo, Online) Assunto da revista: Medicina Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Brasil / Espanha País de publicação: Brasil
Texto completo
Adicionar na Minha BVS
Imprimir
XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: LILACS País/Região como assunto: America do sul / Brasil Idioma: En Revista: Einstein (São Paulo, Online) Assunto da revista: Medicina Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Brasil / Espanha País de publicação: Brasil