Phenotypes associated with the disease Congenital total pulmonary venous return anomaly (ORPHA:99125):
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99125)
- Cyanosis (HP:0000961): Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99125)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99125)
- Tachycardia (HP:0001649): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99125)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99125)
- Exertional dyspnea (HP:0002875): Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99125)
- Atrial situs ambiguous (HP:0011539): Common atrium without defining morphologic features. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99125)
- Supracardiac total anomalous pulmonary venous connection (HP:0011719): Type 1 total anomalous pulmonary venous connection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99125)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99125)
- Paroxysmal dyspnea (HP:0012763): A sudden attack of dyspnea that occurs while the affected person is at rest. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99125)
- Pallor (HP:0000980): Abnormally pale skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99125)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99125)
- Cardiomegaly (HP:0001640): Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99125)
- Patent ductus arteriosus (HP:0001643): 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). (ORPHA:99125)
- Dextrocardia (HP:0001651): The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99125)
- Right ventricular failure (HP:0001708): Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99125)
- Double outlet right ventricle (HP:0001719): 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). (ORPHA:99125)
- Single ventricle (HP:0001750): The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99125)
- Poor suck (HP:0002033): An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99125)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99125)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99125)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99125)
- Hypoplastic left ventricle (HP:0004383): A severe congenital heart defect characterized by underdevelopment of the left ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99125)
- Pulmonary artery stenosis (HP:0004415): An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99125)
- Respiratory failure requiring assisted ventilation (HP:0004887): A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99125)
- Tricuspid regurgitation (HP:0005180): Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99125)
- Increased anterioposterior diameter of thorax (HP:0005253). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99125)
- Apneic episodes in infancy (HP:0005949): Recurrent episodes of apnea occurring during infancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99125)
- Low-output congestive heart failure (HP:0009805): A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99125)
- Cardiac total anomalous pulmonary venous connection (HP:0011720): Type 2 total anomalous pulmonary venous connection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99125)
- Infracardiac total anomalous pulmonary venous connection (HP:0011721): Type 3 total anomalous pulmonary venous connection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99125)
- Mixed total anomalous pulmonary venous connection (HP:0011722): Type 4 total anomalous pulmonary venous connection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99125)
- Heterotaxy (HP:0030853): 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). (ORPHA:99125)
- Low 1-minute APGAR score (HP:0030918). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99125)
- Low 5-minute APGAR score (HP:0030919). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99125)
- Mitral regurgitation (HP:0001653): 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: Very rare (HP:0040284). (ORPHA:99125)
- Transposition of the great arteries (HP:0001669): A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99125)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99125)
- Mitral atresia (HP:0011560): A congenital defect with failure to open of the mitral valve orifice. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99125)
- Hypoplastic aortic arch (HP:0012304): Underdevelopment of the arch of aorta. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99125)