Phenotypes associated with the disease Brugada syndrome 6 (OMIM:613119):
- Ventricular fibrillation (HP:0001663): Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. Evidence: PCS. (PMID:19122847)
- Cardiac arrest (HP:0001695): An abrupt loss of heart function. Evidence: PCS. (PMID:19122847)
- ST segment elevation (HP:0012251): An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line. Evidence: PCS. Frequency: 4/4. (PMID:19122847)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:19122847)