Mexiletine prevents transient heart failure in a polymicrogyria child with an ATP1A3 variant: a case report.

ABSTRACT:

Background

Several variants in ATP1A3, a gene encoding the α3-subunit of Na⁺/K⁺ adenosine triphosphatase (Na-K-ATPase), are reportedly involved in polymicrogyria. Some cases exhibit transient heart failure (HF); however, its underlying mechanism and prevention strategy remain unknown.

Case summary

The patient was a 5-year-old female who suffered from intractable seizures since birth and was diagnosed with polymicrogyria based on a head magnetic resonance imaging scan. Whole-exome sequencing identified a de novo heterozygous ATP1A3 variant, c.2976_2978del, p.(Asp992del). At 4 years of age, she experienced transient HF for the first time. Because bradycardia could trigger transient HF, we administered cilostazol. However, her bradycar

SUBMITTER: Aida M 

PROVIDER: S-EPMC12924159 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature