Phenotypes associated with the disease atrial fibrillation, familial, 6 (OMIM:612201, an entry in Online Mendelian Inheritance in Man):
- 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: 5/11. (PMID:18614783)
- Left atrial enlargement (HP:0031295, a Human Phenotype Ontology term): Increase in size of the left atrium. Evidence: PCS. Frequency: 7/11. (PMID:18614783)
- 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: 6/11. (PMID:18614783)
- 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: 11/11. (PMID:18614783)
- Left ventricular hypertrophy (HP:0001712, a Human Phenotype Ontology term): Enlargement or increased size of the heart left ventricle. Evidence: PCS. Frequency: 0/11. (PMID:18614783)
- 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: 0/11. (PMID:18614783)
- 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:18614783)
- Elevated left ventricular end-diastolic diameter (HP:0034307, a Human Phenotype Ontology term): The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae. Evidence: PCS. Frequency: 5/11. (PMID:18614783)