Phenotypes associated with the disease hypertrophic cardiomyopathy 10 (OMIM:608758):
- Ventricular fibrillation (HP:0001663): Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. Evidence: PCS. Frequency: 1/7. (PMID:12404107)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: PCS. (PMID:12404107)
- Asymmetric septal hypertrophy (HP:0001670): Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray. Evidence: PCS. Frequency: 2/7. (PMID:12404107)
- Ventricular septal hypertrophy (HP:0005144): The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle. Evidence: PCS. (PMID:12404107)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 7/7. (PMID:12404107)
- 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: 1/7. (PMID:12404107)
- T-wave inversion (HP:0010872): An inversion of the T-wave (which is normally positive). Evidence: PCS. Frequency: 14/22. (PMID:12404107;PMID:9535554)
- 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: 1/7. (PMID:12404107)
- Systolic anterior motion of the mitral valve (HP:0031656): Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole. Evidence: PCS. Frequency: 8/16. (PMID:9535554)
- Hypertrophic cardiomyopathy (HP:0001639): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: PCS. Frequency: 4/4. (PMID:8673105)
- Left ventricular hypertrophy (HP:0001712): Enlargement or increased size of the heart left ventricle. Evidence: PCS. Frequency: 13/16. (PMID:9535554)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: PCS. Frequency: 1/7. (PMID:12404107)
- 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. (PMID:12404107)
- 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:8673105)
- 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: 2/7. (PMID:12404107)
- 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. (PMID:12404107)
- Supraventricular tachycardia (HP:0004755): Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles. Evidence: PCS. Frequency: 1/7. (PMID:12404107)