Key result
A 9-year-old girl presenting with syncope and concerning family history was ultimately diagnosed with pediatric Brugada syndrome, highlighting the importance of provider persistence.
Why the study?
To highlight the persistence and suspicion required to uncover a rare, life-threatening diagnosis in a child presenting with syncope and a potentially concerning family history.
Case Report (n=1)
Highlights the importance of clinical suspicion and persistence in diagnosing rare, life-threatening conditions like pediatric Brugada syndrome in patients with syncope and concerning family history.
Supports consideration of Brugada syndrome in pediatric syncope with family history; leaves open validation via prospective pediatric cohorts.
This is the case of a 9-year-old girl who initially presents with episodes of syncope and potentially concerning family history. An extensive evaluation is unrevealing, and she appears to have simple benign autonomic dysfunction. Eventually, a rare and life-threatening disease is uncovered, and she receives appropriate treatment. The case report highlights the persistence and suspicion of the managing providers that ultimately allowed the diagnosis to be revealed as well as some of the key features of the underlying disease.
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Dechert et al. (2019) conducted a case report in Pediatric Brugada Syndrome (n=1). A 9-year-old girl presenting with syncope and concerning family history was ultimately diagnosed with pediatric Brugada syndrome, highlighting the importance of provider persistence.
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