Phenotypes associated with the disease long QT syndrome 14 (OMIM:616247):
- Myocarditis (HP:0012819): Inflammation of the myocardium. Evidence: PCS. Frequency: 0/1. (PMID:27374306)
- 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. Frequency: 4/4. (PMID:27374306;PMID:23388215)
- Cardiac arrest (HP:0001695): An abrupt loss of heart function. Evidence: PCS. Frequency: 4/4. (PMID:27374306;PMID:23388215)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/3. (PMID:23388215)
- Prolonged QTc interval (HP:0005184): A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations. Evidence: PCS. Frequency: 4/4. (PMID:27374306;PMID:23388215)
- 2:1 atrioventricular block (HP:0034305): A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex. Evidence: PCS. Frequency: 2/3. (PMID:23388215)
- Polymorphic ventricular tachycardia (HP:0031677): A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat). Evidence: PCS. Frequency: 3/3. (PMID:27374306;PMID:23388215)
- T-wave alternans (HP:0012266): A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG. Evidence: PCS. Frequency: 3/3. (PMID:23388215)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:27374306)
- Prolonged QT interval (HP:0001657): Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). Evidence: IEA. (OMIM:616247)
- 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:23388215)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/3. (PMID:23388215)
- Sudden death (HP:0001699): Rapid and unexpected death. Evidence: TAS. (OMIM:616247)