96-72: Gender Differences in Atrial Fibrillation Patient's Knowledge and Perceptions about Oral Anticoagulation Therapy: Results from an International Survey

Figure This depicts R860 Q variant mutation where residue R860 is located near residue N755 forming a hydrogen-bonding interaction, stabilizing the structure of the domain. Background: Long QT syndrome (LQTS) is an ion-channel disorder characterized by QT prolongation and Twave abnormalities on the ECG along with syncope or sudden death from torsade de pointes (TdP). We describe a new genetic variant in CACNA1C associated with LQTS in a survivor of cardiac arrest. Methods and Results: The proband presented with VF arrest. ECG revealed long QT interval (720 msec) and notched T wave in pericordial leads V4-V6. Also, family history of sudden infant death syndrome (SIDS) was reported and hence genetic analysis of 12 genes associated with LQTS was performed. We identified a variant in the CACNA1C gene causing a substitution of CGA to CAA; specifically, c.2579 G . A in exon 19 on chromosome 12 of the CACNA1C (polypeptide isoform); referred to as R860Q. This variant is classified as "likelydisease causing". (Figure Conclusion: To the best of our knowledge, this is the first report of the CACNA1C R860Q variant and is associated with LQTS and SCD in this family. This suggests that this CACNA1C variant is associated with LQTS and carries risk for SCD.