Phenotypes associated with the disease atrial fibrillation, familial, 18 (OMIM:617280):
- Permanent atrial fibrillation (HP:0004754): Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent. Evidence: PCS. Frequency: 3/6. (PMID:27066836)
- Third degree atrioventricular block (HP:0001709): Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them. Evidence: PCS. Frequency: 1/6. (PMID:27066836)
- Bradycardia (HP:0001662): A slower than normal heart rate (in adults, slower than 60 beats per minute). Evidence: PCS. Frequency: 1/6. (PMID:27066836)
- First degree atrioventricular block (HP:0011705): Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles. Evidence: PCS. Frequency: 3/6. (PMID:27066836)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 5/5. (PMID:27066836)
- Palpitations (HP:0001962): A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. Evidence: PCS. Frequency: 3/6. (PMID:27066836)
- Paroxysmal atrial fibrillation (HP:0004757): Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously. Evidence: PCS. Frequency: 2/6. (PMID:27066836)
- 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:27066836)