- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:216694)
- 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: Very frequent (HP:0040281). (ORPHA:216694)
- Abnormal tricuspid valve morphology (HP:0001702): Any structural anomaly of the tricuspid valve. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:216694)
- Abnormal atrioventricular valve morphology (HP:0006705): An abnormality of an atrioventricular valve. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:216694)
- Abnormal left ventricular outflow tract morphology (HP:0011103): An abnormality of the outflow tract of the left ventricle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:216694)
- Discordant atrioventricular connection (HP:0011553): Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:216694)
- 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:216694)
- 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: Frequent (HP:0040282). (ORPHA:216694)
- Bradycardia (HP:0001662): A slower than normal heart rate (in adults, slower than 60 beats per minute). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:216694)
- Abnormal atrioventricular conduction (HP:0005150): An impairment of the electrical continuity between the atria and ventricles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:216694)
- Atrial situs ambiguous (HP:0011539): Common atrium without defining morphologic features. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:216694)
- Ambiguous atrioventricular connection (HP:0011552): With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:216694)
- Heart murmur (HP:0030148): 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). (ORPHA:216694)
- Cardiac conduction abnormality (HP:0031546): Any anomaly of the progression of electrical impulses through the heart. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:216694)
- 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: Occasional (HP:0040283). (ORPHA:216694)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- Congestive heart failure (HP:0001635): 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: Occasional (HP:0040283). (ORPHA:216694)
- 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:216694)
- 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:216694)
- 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: Occasional (HP:0040283). (ORPHA:216694)
- Situs inversus totalis (HP:0001696): A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- Third degree atrioventricular block (HP:0001709): Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- Wolff-Parkinson-White syndrome (HP:0001716): A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- 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:216694)
- Easy fatigability (HP:0003388): Increased susceptibility to fatigue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- Supraventricular tachycardia (HP:0004755): Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- 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:216694)
- 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:216694)
- Global systolic dysfunction (HP:0005185): A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- Premature atrial contractions (HP:0006699): A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- Ebstein anomaly of the tricuspid valve (HP:0010316): Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- Atrial situs inversus (HP:0011538): Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- Double outlet left ventricle (HP:0011581): A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- Double aortic arch (HP:0011590): A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- Gerbode ventricular septal defect (HP:0011621): A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- Right ventricular cardiomyopathy (HP:0011663): Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- Bilateral superior vena cava with bridging vein (HP:0011667). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- Arrhythmia (HP:0011675): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- Perimembranous ventricular septal defect (HP:0011682): A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- Supraventricular tachycardia with an accessory connection mediated pathway (HP:0011688): Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- Sick sinus syndrome (HP:0011704): An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- First degree atrioventricular block (HP:0011705): Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- Mobitz I atrioventricular block (HP:0011707): Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- Food intolerance (HP:0012537): A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- Heart block (HP:0012722): Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- Abnormal aortic valve cusp morphology (HP:0031567): Any structural anomaly of the aortic valve leaflets. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:216694)
- Atrial flutter (HP:0004749): 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: Very rare (HP:0040284). (ORPHA:216694)
- Ventricular tachycardia (HP:0004756): A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:216694)
- Mesocardia (HP:0011599): Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:216694)
These phenotypes are associated with the disease Congenitally corrected transposition of the great arteries (ORPHA:216694).