Phenotypes associated with the disease Common arterial trunk (ORPHA:3384):
- Truncus arteriosus (HP:0001660): A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:3384)
- 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: Very frequent (HP:0040281). (ORPHA:3384)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3384)
- Tachycardia (HP:0001649): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3384)
- Abnormal heart valve morphology (HP:0001654): Any structural abnormality of a cardiac valve. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3384)
- Abnormal heart valve physiology (HP:0031653): Any functional abnormality of a cardiac valve. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3384)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3384)
- 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: Frequent (HP:0040282). (ORPHA:3384)
- 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: Frequent (HP:0040282). (ORPHA:3384)
- Aortic regurgitation (HP:0001659): An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3384)
- Right ventricular hypertrophy (HP:0001667): In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3384)
- Tachypnea (HP:0002789): Very rapid breathing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3384)
- Anomalous origin of one pulmonary artery from ascending aorta (HP:0011660): Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3384)
- Right aortic arch (HP:0012020): Aorta descends on right instead of on the left. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3384)
- Hypoplasia of the thymus (HP:0000778): Underdevelopment of the thymus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3384)
- Adrenocortical abnormality (HP:0000849). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3384)
- 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: Occasional (HP:0040283). (ORPHA:3384)
- Tetralogy of Fallot (HP:0001636): 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). (ORPHA:3384)
- Pulmonic stenosis (HP:0001642): A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3384)
- 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:3384)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3384)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3384)
- Abnormal lung lobation (HP:0002101): A developmental defect in the formation of pulmonary lobes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3384)
- 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:3384)
- Pulmonary artery atresia (HP:0004935): A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3384)
- Persistent left superior vena cava (HP:0005301): A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3384)
- Abnormal coronary artery morphology (HP:0006704): Any structural abnormality of the coronary arteries. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3384)
- Interrupted aortic arch (HP:0011611): Non-continuity of the arch of aorta with an atretic point or absent segment. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3384)
- Single coronary artery origin (HP:0011640): The presence of a single coronary artery ostium from which both coronary arteries arise. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3384)
- Abnormal superior vena cava morphology (HP:0025575): Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3384)
- Aberrant right subclavian artery (HP:0031632): Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3384)
- Aplasia/hypoplasia involving bones of the extremities (HP:0045060). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3384)
- Pulmonary edema (HP:0100598): Fluid accumulation in the lungs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3384)
- 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:3384)
- Pulmonary artery hypoplasia (HP:0004971): Underdevelopment of the pulmonary artery. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3384)
- Anomalous origin of the left common carotid artery from the brachiocephalic artery (HP:0031635): The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3384)