- Permanent atrial fibrillation (HP:0004754, a Human Phenotype Ontology term): 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: 2/3. (PMID:21051419)
- Middle age onset (HP:0003596, a Human Phenotype Ontology term): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 1/3. (PMID:21051419)
- ST segment elevation (HP:0012251, a Human Phenotype Ontology term): An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line. Evidence: TAS. (OMIM:613120)
- Atrial flutter (HP:0004749, a Human Phenotype Ontology term): A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit. Evidence: TAS. (OMIM:613120)
- Late young adult onset (HP:0025710, a Human Phenotype Ontology term): Onset of disease at an age of greater than or equal to 25 to under 40 years. Evidence: PCS. Frequency: 2/3. (PMID:21051419)
- Paroxysmal atrial fibrillation (HP:0004757, a Human Phenotype Ontology term): Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously. Evidence: PCS. Frequency: 1/3. (PMID:21051419)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:21051419)
- Prolonged P wave (HP:0034308, a Human Phenotype Ontology term): Abnormal increased in the duration of the P wave, which is a marker of delayed inter-atrial conduction. Evidence: PCS. Frequency: 1/3. (PMID:21051419)
These phenotypes are associated with the disease Brugada syndrome 7 (OMIM:613120, an entry in Online Mendelian Inheritance in Man).