Phenotypes associated with the disease dilated cardiomyopathy 1AA (OMIM:612158, an entry in Online Mendelian Inheritance in Man):
- Juvenile onset (HP:0003621, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/1. (PMID:14567970)
- Myofiber disarray (HP:0031318, a Human Phenotype Ontology term): A nonparallel arrangement of cardiac myocytes. Evidence: PCS. Frequency: 1/2. (PMID:17097056)
- Cardiomyocyte hypertrophy (HP:0031319, a Human Phenotype Ontology term): An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes. Evidence: PCS. Frequency: 2/2. (PMID:17097056)
- Cardiac arrest (HP:0001695, a Human Phenotype Ontology term): An abrupt loss of heart function. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:612158)
- Atrial fibrillation (HP:0005110, a Human Phenotype Ontology term): An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:612158)
- Left ventricular noncompaction (HP:0030682, a Human Phenotype Ontology term): Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:612158)
- Death in adolescence (HP:0011421, a Human Phenotype Ontology term): Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 16 years). Evidence: PCS. Frequency: 1/1. (PMID:14567970)
- Endocardial fibroelastosis (HP:0001706, a Human Phenotype Ontology term): Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction. Evidence: PCS. Frequency: 1/1. (PMID:14567970)
- Hypertrophic cardiomyopathy (HP:0001639, a Human Phenotype Ontology term): 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: 3/3. (PMID:17097056)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 3/3. (PMID:17097056)
- Left ventricular hypertrophy (HP:0001712, a Human Phenotype Ontology term): Enlargement or increased size of the heart left ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:612158)
- Endocardial fibrosis (HP:0006685, a Human Phenotype Ontology term): The presence of excessive connective tissue in the endocardium. Evidence: PCS. Frequency: 2/2. (PMID:17097056)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:14567970)
- Atrioventricular block (HP:0001678, a Human Phenotype Ontology term): Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:612158)
- Dilated cardiomyopathy (HP:0001644, a Human Phenotype Ontology term): Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. Evidence: PCS. Frequency: 1/1. (PMID:14567970)
- Supraventricular tachycardia (HP:0004755, a Human Phenotype Ontology term): 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: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:612158)