- Cardiac arrest (HP:0001695): An abrupt loss of heart function. Evidence: PCS. Frequency: 3/32. (PMID:15489853)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: PCS. Frequency: 3/25. (PMID:16549640)
- Epsilon wave (HP:0034304): An electric signal of depolarization observed between the end of the QRS complex and the beginning of the T wave. Evidence: PCS. Frequency: 10/36. (PMID:16549640;PMID:15489853)
- Right ventricular cardiomyopathy (HP:0011663): Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease. Evidence: PCS. Frequency: 32/32. (PMID:15489853)
- Fibrofatty replacement of right ventricular myocardium (HP:0034364): Replacement of the myocardium of the right ventricular free wall by fat and fibrous tissue. Evidence: PCS. Frequency: 4/11. (PMID:16549640)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. (PMID:16549640)
- 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: 13/18. (PMID:16549640)
- 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: 9/25. (PMID:16549640)
- Dilatation of the ventricular cavity (HP:0006698): A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole. Evidence: TAS. (OMIM:609040)
- Syncope (HP:0001279): A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion. Evidence: PCS. Frequency: 8/39. (PMID:16549640;PMID:15489853)
- Prolonged QRS complex (HP:0006677): Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec. Evidence: PCS. Frequency: 15/25. (PMID:16549640)
- 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:15489853)
- Sudden cardiac death (HP:0001645): The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). Evidence: PCS. Frequency: 1/32. (PMID:15489853)
- 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: 30/32. (PMID:15489853)
These phenotypes are associated with the disease arrhythmogenic right ventricular dysplasia 9 (OMIM:609040).