Successful coil embolization for treatment of systemic to pulmonary collateral arteries (SPCAs): A case report among series of six cases with KCNT1-epilepsy and literature reviews

Abstract

Background

KCNT1 pathogenic variants are associated with a broad range of neurological and non-neurological phenotypes. Neurologically, these variants are known to cause several epilepsy phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS) and autosomal dominant sleep-related hypermotor epilepsy (SHE). A potentially fatal cardiovascular phenotype, systemic to pulmonary collateral arteries (SPCAs), has also been suggested as part of the spectrum associated with KCNT1 mutations.

Case presentation

We describe a patient with KCNT1-associated epilepsy who was found to have SPCAs in a cohort of six Thai cases. The SPCAs were successfully treated with coil embolization.

Results

In this cohort, the prevalence of SPCAs in Thai patients with KCNT1-associated epilepsy is estimated to be 16.7 % (1 out of 6). Quinidine therapy was effective in 83 % (5 out of 6) of the reported cases.

Discussion

The presence of SPCAs as part of the KCNT1-associated disorder highlights the importance of recognizing cardiovascular phenotypes in these patients. Early identification and intervention, such as coil embolization, can be life-saving.

Conclusion

Awareness of SPCAs as a possible cardiac phenotype in KCNT1-associated epilepsy is crucial, as timely and effective treatment can significantly improve patient outcomes.