A 59-Year-Old Woman with Familial Brugada Syndrome and the c.664C>T Variant of the Sodium Voltage-Gated Channel Alpha Subunit 5 (SCN5A) Gene, Accompanied by Congenital Absence of the Right Coronary Artery, Patent Foramen Ovale, and Ischemic Stroke.

ABSTRACT

BACKGROUND Brugada syndrome is a rare inherited channelopathy that can lead to sudden cardiac death. The discovery of new variants of variable penetrance along with the current guidance for cascade family screening can be expected to lead to an increase in identified asymptomatic carriers of potentially causative mutations of channelopathies. A single coronary artery is a rare congenital anomaly of the coronary anatomy. We present a rare case of a 59-year-old woman with a family history of Brugada syndrome with the c.664C>T variant of the SCN5A gene, congenital absence of the right coronary artery, and patent foramen ovale. CASE REPORT We present a case of a patient with a family history of Brugada syndrome who tested positive for the SCN5A variant. The patient had no previous history of syncope or aborted sudden cardiac death. The patient had no features suggestive of Brugada type I ECG. An electrophysiology study was offered but the patient declined. She also complained of angina, and work-up with computed tomography coronary angiography revealed a congenital absence of the right coronary artery with no significant stenosis of the single left coronary artery. In the followup period, she suffered a stroke and was diagnosed with patent foramen ovale (PFO). She has been referred for PFO closure. CONCLUSIONS A rare case is reported of familial Brugada syndrome with absence of the right coronary artery and patent foramen ovale, which may have combined to increase this patient's risk for ischemic stroke.