- Middle age onset (HP:0003596, a Human Phenotype Ontology term): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 3/3. (PMID:15998695)
- Congestive heart failure (HP:0001635, a Human Phenotype Ontology term): 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: PCS. Frequency: 3/3. (PMID:15998695)
- Reduced left ventricular ejection fraction (HP:0012664, a Human Phenotype Ontology term): A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle. Evidence: PCS. Frequency: 3/3. (PMID:15998695)
- Increased left ventricular end-diastolic volume (HP:0033755, a Human Phenotype Ontology term): Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole). Evidence: PCS. Frequency: 3/3. (PMID:15998695)
- 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:15998695)
- 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: 3/3. (PMID:15998695)
These phenotypes are associated with the disease dilated cardiomyopathy 1EE (OMIM:613252, an entry in Online Mendelian Inheritance in Man).