Phenotypes associated with the disease Partial atrioventricular septal defect (ORPHA:1330, an Orphanet rare-disease identifier):
- Partial atrioventricular canal defect (HP:0011577, a Human Phenotype Ontology term): A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices. Evidence: TAS. Frequency: Obligate (HP:0040280, a Human Phenotype Ontology term). (ORPHA:1330)
- 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: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:1330)
- Palpitations (HP:0001962, a Human Phenotype Ontology term): A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:1330)
- Recurrent respiratory infections (HP:0002205, a Human Phenotype Ontology term): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:1330)
- Exertional dyspnea (HP:0002875, a Human Phenotype Ontology term): Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:1330)
- Exercise-induced muscle fatigue (HP:0009020, a Human Phenotype Ontology term): An abnormally increased tendency towards muscle fatigue induced by physical exercise. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:1330)
- 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: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:1330)
- Syncope (HP:0001279, a Human Phenotype Ontology term): A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1330)
- Tetralogy of Fallot (HP:0001636, a Human Phenotype Ontology term): A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1330)
- Patent ductus arteriosus (HP:0001643, a Human Phenotype Ontology term): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1330)
- Bicuspid aortic valve (HP:0001647, a Human Phenotype Ontology term): The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1330)
- Aortic valve stenosis (HP:0001650, a Human Phenotype Ontology term): The presence of a stenosis (narrowing) of the aortic valve. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1330)
- Coarctation of aorta (HP:0001680, a Human Phenotype Ontology term): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1330)
- Angina pectoris (HP:0001681, a Human Phenotype Ontology term): Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1330)
- Atrial arrhythmia (HP:0001692, a Human Phenotype Ontology term): A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1330)
- Abnormal tricuspid valve morphology (HP:0001702, a Human Phenotype Ontology term): Any structural anomaly of the tricuspid valve. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1330)
- Double outlet right ventricle (HP:0001719, a Human Phenotype Ontology term): Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1330)
- Transient ischemic attack (HP:0002326, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1330)
- Hypoplastic left ventricle (HP:0004383, a Human Phenotype Ontology term): A severe congenital heart defect characterized by underdevelopment of the left ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1330)
- Atrial flutter (HP:0004749, a Human Phenotype Ontology term): A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1330)
- Bacterial endocarditis (HP:0006689, a Human Phenotype Ontology term): A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1330)
- Anomalous pulmonary venous return (HP:0010772, a Human Phenotype Ontology term): A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1330)
- Common atrium (HP:0011565, a Human Phenotype Ontology term): Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1330)
- Heterotaxy (HP:0030853, a Human Phenotype Ontology term): An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1330)
- Coronary sinus enlargement (HP:0031298, a Human Phenotype Ontology term): Abnormal increase in size of the coronary sinus. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1330)