Phenotypes associated with the disease dilated cardiomyopathy 1R (OMIM:613424):
- Interstitial cardiac fibrosis (HP:0031329): A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces. Evidence: PCS. Frequency: 2/2. (PMID:9563954)
- Myofiber disarray (HP:0031318): A nonparallel arrangement of cardiac myocytes. Evidence: PCS. Frequency: 0/2. (PMID:9563954)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/5. (PMID:9563954)
- Cardiomyocyte hypertrophy (HP:0031319): An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes. Evidence: PCS. Frequency: 2/2. (PMID:9563954)
- 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: 1/5. (PMID:9563954)
- Left ventricular noncompaction (HP:0030682): 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). (OMIM:613424)
- Increased left ventricular end-diastolic volume (HP:0033755): Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole). Evidence: PCS. Frequency: 6/8. (PMID:9563954)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/5. (PMID:9563954)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/5. (PMID:9563954)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: IEA. (OMIM:613424)
- Left ventricular hypertrophy (HP:0001712): Enlargement or increased size of the heart left ventricle. Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:613424)
- Restrictive cardiomyopathy (HP:0001723): Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:613424)
- Ventricular arrhythmia (HP:0004308). Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:613424)
- 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:9563954)
- Dilated cardiomyopathy (HP:0001644): 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: 5/8. (PMID:9563954)