Phenotypes associated with the disease arrhythmogenic right ventricular dysplasia 10 (OMIM:610193):
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/8. (PMID:16505173)
- Woolly hair (HP:0002224): The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. Evidence: PCS. Frequency: 0/8. (PMID:16505173)
- 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: 3/8. (PMID:16505173)
- Late onset (HP:0003584): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 1/8. (PMID:16505173)
- Increased circulating troponin I concentration (HP:0410173): An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. Evidence: PCS. Frequency: 1/8. (PMID:16505173)
- Complete right bundle branch block (HP:0011712): A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG. Evidence: PCS. Frequency: 1/8. (PMID:16505173)
- 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: 3/8. (PMID:16505173)
- 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:16505173)
- Prolonged PR interval (HP:0012248): Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex). Evidence: PCS. Frequency: 3/8. (PMID:16505173)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/8. (PMID:16505173)
- 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: 5/8. (PMID:16505173)
- Elevated circulating CK-MB concentration (HP:0032232): The concentration of CK-MB (= creatine kinase MB) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/8. (PMID:16505173)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: PCS. Frequency: 1/8. (PMID:16505173)
- Ventricular arrhythmia (HP:0004308). Evidence: PCS. Frequency: 8/8. (PMID:16505173)
- 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: 3/8. (PMID:16505173)
- 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:16505173)
- 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: 1/8. (PMID:16505173)
- 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: 3/8. (PMID:16505173)