- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:16651346)
- Right atrial enlargement (HP:0030718): Increase in size of the right atrium. Evidence: PCS. Frequency: 1/1. (PMID:16651346)
- 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: PCS. Frequency: 1/1. (PMID:16651346)
- Myocardial sarcomeric disarray (HP:0031333): A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes. Evidence: PCS. Frequency: 1/1. (PMID:16651346)
- Hypotension (HP:0002615): Low Blood Pressure, vascular hypotension. Evidence: PCS. Frequency: 1/1. (PMID:16651346)
- Reduced left ventricular ejection fraction (HP:0012664): A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle. Evidence: PCS. Frequency: 1/1. (PMID:16651346)
- Left axis deviation (HP:0033568): A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees. Evidence: PCS. Frequency: 1/1. (PMID:16651346)
- 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:16651346)
- Abnormal ST segment (HP:0012249): An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment. Evidence: PCS. Frequency: 1/1. (PMID:16651346)
- Aortic aneurysm (HP:0004942): Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter. Evidence: PCS. Frequency: 1/1. (PMID:16651346)
These phenotypes are associated with the disease cardiomyopathy, familial restrictive, 3 (OMIM:612422).