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PRKAG2 syndrome, a rare hypertrophic cardiomyopathy: a Brazilian long-term follow-up with extracardiac disorders.
- Source :
-
Einstein (Sao Paulo, Brazil) [Einstein (Sao Paulo)] 2024 Jul 26; Vol. 22, pp. eAO0549. Date of Electronic Publication: 2024 Jul 26 (Print Publication: 2024). - Publication Year :
- 2024
-
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.<br />Methods: A family cohort of 66 participants was recruited. Clinical and genetic analyses were performed.<br />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.<br />Conclusion: This study identified that the p.K291I&#95;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.
- Subjects :
- Humans
Female
Male
Adult
Follow-Up Studies
Young Adult
Middle Aged
Brazil epidemiology
Adolescent
Mutation
AMP-Activated Protein Kinases genetics
Phenotype
Child
Arrhythmias, Cardiac genetics
Arrhythmias, Cardiac etiology
Syndrome
Aged
Cardiomyopathy, Hypertrophic genetics
Cardiomyopathy, Hypertrophic complications
Subjects
Details
- Language :
- English
- ISSN :
- 2317-6385
- Volume :
- 22
- Database :
- MEDLINE
- Journal :
- Einstein (Sao Paulo, Brazil)
- Publication Type :
- Academic Journal
- Accession number :
- 39082507
- Full Text :
- https://doi.org/10.31744/einstein_journal/2024AO0549