Key result
Novel homozygous KCNJ16 mutation linked to severe hypokalemia and sudden cardiac arrest in infancy.
Case Report (n=1)
No
This is the first description of sudden cardiac arrest at presentation in KCNJ16 associated hypokalaemic tubulopathy and deafness.
Alerts clinicians to KCNJ16 tubulopathy in infants with cardiac arrest; extends phenotype but leaves arrhythmia risk open for study.
Inwardly rectifying potassium channels (Kir) allow potassium (K+) to easily move into cells. They are implicated in several diverse physiological processes throughout the body. KCNJ16 associated tubulopathy and deafness affects a subset of Kir transport channels. This disease was first described in 2021, amongst a cohort of 9 patients in total. Sudden cardiac arrest has been described as a presenting symptom of tubulopathy previously. We report the case of an infant who presented with sudden cardiac arrest (SCA) aged 7 months secondary to severe hypokalaemia. Singleton exome analysis identified apparent homozygous missense variants in KCNJ16 (c.409C>G; p.R137G). To our knowledge, this is the first description of sudden cardiac arrest at presentation in this form of tubulopathy.
No takes yet. Share an insight, caveat, or question.
Sullivan et al. (2023) conducted a case report in KCNJ16 associated Hypokalaemic Tubulopathy and Deafness (n=1). KCNJ16 homozygous missense variant (c.409C>G; p.R137G) was evaluated on Clinical presentation and genetic diagnosis. A novel homozygous missense variant in KCNJ16 (c.409C>G; p.R137G) was identified in a 7-month-old infant presenting with sudden cardiac arrest secondary to severe hypokalaemia.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: