Abstract

Brugada syndrome (BrS) is a rare inherited cardiac channelopathy disorder. It is known for its distinctive electrocardiogram (ECG) patterns and often manifests with unexplained syncope or sudden cardiac arrest. The genetic basis of BrS is diverse, involving mutations in genes that encode cardiac ion channel subunits, including calcium, sodium and potassium, alongside genes governing their transport regulation. Although BrS is well-documented in adults and older children, its presentation during the neonatal period is uncommon and poorly described. We present a case of a full-term newborn, delivered at 40 weeks of gestation, who experienced multiple episodes of ventricular tachycardia. These episodes began on the fourth day of life during neonatal intensive care unit (NICU) admission for transient tachypnoea of the newborn and tachycardia. An extensive evaluation was conducted, including genetic testing for channelopathies, which identified a heterozygous mutation (AD) in the CACNA1C gene that encodes the alpha-1C subunit of the L-type voltage-gated calcium channel located on chromosome 12p13, thus confirming the diagnosis of BrS type 3.

Keywords: Ventricular Tachycardia, Neonate, Calcium Channelopathy, Brugada Syndrome