- Permanent atrial fibrillation (HP:0004754, a Human Phenotype Ontology term): Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent. Evidence: PCS. Frequency: 2/21. (PMID:25351925)
- Stroke (HP:0001297, a Human Phenotype Ontology term): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: PCS. Frequency: 2/8. (PMID:25351925)
- 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: 2/7. (PMID:25351925)
- 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: 11/28. (PMID:25351925)
- Late onset (HP:0003584, a Human Phenotype Ontology term): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 2/21. (PMID:25351925)
- 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: PCS. Frequency: 4/8. (PMID:25351925)
- Left anterior fascicular block (HP:0011711, a Human Phenotype Ontology term): Conduction block in the anterior division of the left bundle branch of the bundle of His. Evidence: PCS. Frequency: 1/21. (PMID:25351925)
- Right atrial enlargement (HP:0030718, a Human Phenotype Ontology term): Increase in size of the right atrium. Evidence: PCS. Frequency: 2/8. (PMID:25351925)
- Left bundle branch block (HP:0011713, a Human Phenotype Ontology term): A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG. Evidence: PCS. Frequency: 1/8. (PMID:25351925)
- Prolonged QTc interval (HP:0005184, a Human Phenotype Ontology term): A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations. Evidence: PCS. Frequency: 2/8. (PMID:25351925)
- Left atrial enlargement (HP:0031295, a Human Phenotype Ontology term): Increase in size of the left atrium. Evidence: PCS. Frequency: 3/18. (PMID:25351925;OMIM:617047)
- 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. (PMID:25351925)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/7. (PMID:25351925)
- 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: 12/28. (PMID:25351925)
- 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: 6/8. (PMID:25351925)
- Mitral regurgitation (HP:0001653, a Human Phenotype Ontology term): An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:617047)
- 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:25351925)
- Sudden cardiac death (HP:0001645, a Human Phenotype Ontology term): The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). Evidence: PCS. Frequency: 5/21. (PMID:25351925)
- 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: PCS. Frequency: 1/8. (PMID:25351925)
These phenotypes are associated with the disease hypertrophic cardiomyopathy 26 (OMIM:617047, an entry in Online Mendelian Inheritance in Man).