- Myofiber disarray (HP:0031318): A nonparallel arrangement of cardiac myocytes. Evidence: PCS. Frequency: 2/2. (PMID:16236538;PMID:16712796)
- 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: 1/1. (PMID:16236538)
- 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:16236538;PMID:16712796)
- Late onset (HP:0003584): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 1/1. (PMID:16712796)
- Hyperdynamic left ventricular ejection fraction (HP:0034313): An abnormally increased ejection fraction of the left ventricle, usually defined as a left ventricular ejection fraction greater than 70 percent. Evidence: PCS. Frequency: 1/1. (PMID:16236538)
- Apical hypertrophic cardiomyopathy (HP:0031992): Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity. Evidence: PCS. Frequency: 1/1. (PMID:16236538)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: PCS. Frequency: 1/1. (PMID:16236538)
- 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: 2/2. (PMID:16236538;PMID:16712796)
- 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: PCS. Frequency: 2/2. (PMID:16236538;PMID:16712796)
- Endocardial fibrosis (HP:0006685): The presence of excessive connective tissue in the endocardium. Evidence: PCS. Frequency: 1/1. (PMID:16236538)
- 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:16236538)
- Left ventricular outflow tract obstruction (HP:0032092): Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle. Evidence: PCS. Frequency: 2/2. (PMID:16236538;PMID:16712796)
- Exertional dyspnea (HP:0002875): Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. Evidence: PCS. Frequency: 2/2. (PMID:16236538;PMID:16712796)
These phenotypes are associated with the disease hypertrophic cardiomyopathy 15 (OMIM:613255).