Publications by authors named "Lenises de Paula van der Steld"
Article Synopsis
- The study focused on long-term outcomes of PRKAG2 syndrome, a rare genetic disorder that can cause serious heart problems and arrhythmias.
- A cohort of 66 individuals was analyzed, revealing that those with the p.K290I gene mutation faced a high rate of severe health issues, including cardiac events and complications during childbirth.
- Findings emphasize the importance of early diagnosis and intervention to improve patient outcomes, while also suggesting a need for further research into related neurological and pregnancy complications.
BACKGROUND PRKAG2 syndrome diagnosis is already well-defined as Wolff-Parkinson-White syndrome (WPW), ventricular hypertrophy (VH) due to glycogen accumulation, and conduction system disease (CSD). Because of its rarity, there is a lack of literature focused on the treatment. The present study aimed to describe appropriate strategies for the treatment of affected family members with PRKAG2 syndrome with a long follow-up period.
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