- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 3/7. (PMID:28280076)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 2/7. (PMID:28280076)
- Right ventricular dilatation (HP:0005133): Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1. Evidence: PCS. (PMID:28280076)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/7. (PMID:28280076)
- Premature ventricular contraction (HP:0006682): Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node. Evidence: PCS. Frequency: 2/7. (PMID:28280076)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: PCS. Frequency: 4/7. (PMID:28280076)
- Left bundle branch block (HP:0011713): A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG. Evidence: PCS. Frequency: 4/7. (PMID:28280076)
- Presyncope (HP:0031972): Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause. Evidence: PCS. Frequency: 2/7. (PMID:28280076)
- 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: 7/7. (PMID:28280076)
- 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:28280076)
- Ventricular tachycardia (HP:0004756): A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms). Evidence: PCS. Frequency: 2/7. (PMID:28280076)
These phenotypes are associated with the disease arrhythmogenic right ventricular dysplasia, familial, 14 (OMIM:618920).