A patient with a novel SCN9A mutation (c.3019C>T) suffered atypical complications following a common surgical procedure, suggesting the mutation contributed to these sequelae.
Case Report (n=1)
Familiarity with sodium channelopathies, particularly SCN9A mutations, is recommended to improve perioperative pain management and outcomes.
ABSTRACT: Mutations in the SCN9A gene, which encodes the sodium voltage-gated channel alpha subunit 9 on chromosome 2 (Nav1.7), are extremely rare and play a crucial role in pain signaling. Depending on the type of mutation, the clinical presentation of these mutations can vary widely from hyperactive pain phenotypes such as primary erythromelalgia to hypoactive pain phenotypes manifesting as congenital insensitivity to pain. Despite multiple descriptions in the literature of pain-associated behaviors in sodium voltage-gated channelopathies, there are no perioperative guidelines in this patient population that can be used to manage pain-associated procedures. Incorporating reported insights from pain literature into an anesthetic plan may improve perioperative patient satisfaction and outcomes. We present a case of a patient with a novel SCN9A mutation (c.3019C>T) who underwent a common surgical procedure and suffered atypical complications. We propose that her SCN9A mutation may have contributed to these sequelae and recommend a greater familiarity with sodium channelopathies-especially those attributed to the SCN9A gene-to improve perioperative management.
Wadle et al. (Fri,) conducted a case report in SCN9A sodium channelopathy (n=1). SCN9A mutation (c.3019C>T) was evaluated on Atypical complications. A patient with a novel SCN9A mutation (c.3019C>T) suffered atypical complications following a common surgical procedure, suggesting the mutation contributed to these sequelae.
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