Phenotypes associated with the disease arrhythmogenic right ventricular dysplasia 1 (OMIM:107970):
- Fatty replacement of ventricular myocardial tissue (HP:0031317): Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue. Evidence: PCS. Frequency: 1/2. (PMID:15639475)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/2. (PMID:15639475)
- Myocardial fibrosis (HP:0001685): Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts. Evidence: PCS. Frequency: 2/2. (PMID:15639475)
- Atrial arrhythmia (HP:0001692): A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance. Evidence: PCS. Frequency: 0/1. (PMID:15639475)
- 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. Frequency: 2/2. (PMID:15639475)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/2. (PMID:15639475)
- T-wave inversion (HP:0010872): An inversion of the T-wave (which is normally positive). Evidence: PCS. Frequency: 2/2. (PMID:15639475)
- 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. (PMID:15639475)
- Right ventricular regional dyskinesia (HP:6000666): A region of the right ventricle exhibits abnormal contraction (dyskinesia) compared to the rest of the ventricle, leading to outward bulging or ballooning during contraction or inadequate inward movement. Evidence: PCS. Frequency: 2/2. (PMID:15639475)
- 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:15639475)
- 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: 1/11. (PMID:15639475)
- 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: 2/2. (PMID:15639475)