Phenotypes associated with the disease Aorto-ventricular tunnel (ORPHA:3400, an Orphanet rare-disease identifier):
- Aorto-ventricular tunnel (HP:0011627, a Human Phenotype Ontology term): Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle. Evidence: TAS. Frequency: Obligate (HP:0040280, a Human Phenotype Ontology term). (ORPHA:3400)
- Ventricular hypertrophy (HP:0001714, a Human Phenotype Ontology term): Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:3400)
- 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: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:3400)
- Abnormal heart valve morphology (HP:0001654, a Human Phenotype Ontology term): Any structural abnormality of a cardiac valve. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:3400)
- Abnormal aortic morphology (HP:0001679, a Human Phenotype Ontology term): An abnormality of the aorta. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:3400)
- Aortic root aneurysm (HP:0002616, a Human Phenotype Ontology term): An abnormal localized widening (dilatation) of the aortic root. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:3400)
- Abnormal coronary artery morphology (HP:0006704, a Human Phenotype Ontology term): Any structural abnormality of the coronary arteries. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:3400)
- Heart murmur (HP:0030148, a Human Phenotype Ontology term): An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:3400)