Antzelevitch et al. (2007) described a 25-year-old white male of European descent who presented with aborted sudden cardiac death and had a QTc of 330 ms on ECG, with coved-type ST segment elevation in V1 and V2 after ... Antzelevitch et al. (2007) described a 25-year-old white male of European descent who presented with aborted sudden cardiac death and had a QTc of 330 ms on ECG, with coved-type ST segment elevation in V1 and V2 after ajmaline challenge. His 23-year-old brother had a 2-year history of syncope, but the rest of the family was asymptomatic. Programmed atrial stimulation induced atrial fibrillation in both brothers, and AV nodal reentrant tachycardia in the younger one. Ten family members were evaluated, and 6 were classified as phenotype-positive based on the presence of ST-segment elevation greater than or equal to 2 mm at baseline or after ajmaline and a shortened QTc (less than or equal to 360 ms in males or 370 ms in females).
In affected members of a family with Brugada syndrome and shortened QT intervals on ECG, who were negative for mutation in genes known to be associated with the Brugada and short QT (see SQT1; 609620) syndromes, Antzelevitch et ... In affected members of a family with Brugada syndrome and shortened QT intervals on ECG, who were negative for mutation in genes known to be associated with the Brugada and short QT (see SQT1; 609620) syndromes, Antzelevitch et al. (2007) identified heterozygosity for a mutation in the CACNB2 gene (S481L; 600003.0001). The mutation was present in all 6 phenotype-positive individuals and absent in 4 phenotype-negative family members and 400 ethnically matched control alleles.