{"Name":"Congenitally corrected transposition of the great arteries","DiseaseID__c":"GARD:0001544","id":1544,"encodedName":"congenitally-corrected-transposition-of-the-great-arteries","IsDeleted":false,"Disease_Name_Full__c":"Congenitally corrected transposition of the great arteries","Xref_IDs__c":"83799000; C0344616; C98902; D000080041; MEDGEN:87489; MONDO:0016301; ORPHA:216694","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016301","Disease_Description__c":"Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations.","GARD_Name__c":"Congenitally corrected transposition of the great arteries","GARD_Synonym__c":"atrioventricular and ventriculo-arterial discordance; cctga; cctgv; congenitally corrected tga; congenitally corrected transposition of great arteries; congenitally corrected transposition of the great vessels; corrected transposition of great vessels; ctga; ctgv; discordant atrioventricular a ventriculo-arterial connections; discordant ventriculoarterial and atrioventricular connections; discordant ventriculoarterial connection with discordant atrioventricular connection; double discordance; l-tga; l-transposition; l-transposition of the great arteries; l-transposition of the great vessels; levo-transposition of the great arteries; levo-transposition of the great vessels; levotransposition of the great arteries; physiologically corrected transposition of the great vessels; transposition of great vessels with ventricular inversion; ventricular inversion; ventriculoarterial and atrioventricular discordance","Curated_Disease_Description_Source__c":"GARD:0001544","Curated_Disease_Description__c":"Congenitally corrected transposition of the great arteries is a rare heart defect that occurs when the ventricles and attached valves are switched. As a result, the aorta and the pulmonary artery are connected to the wrong lower heart chambers.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:216694","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016301","ORPHANET_ID__c":"ORPHA:216694","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Transposición congénitamente corregida de las grandes arterias","Spanish_Description_Source__c":"ORPHA:216694","Spanish_Description__c":"La transposición congénitamente corregida (TCC) de las grandes arterias es una rara malformación cardíaca caracterizada por la combinación de conexiones atrioventricular y ventrículoarterial discordantes, generalmente asociada a otras malformaciones cardiovasculares.","Spanish_Disease_Name__c":"transposición congénitamente corregida de las grandes arterias","Spanish_GARD_Synonym__c":"discordancia de la conexión auriculoventricular y ventriculoarterial; discordancia ventriculoarterial y auriculoventricular; doble discordancia; inversión ventricular; l-transposición de las grandes arterias; levo-transposición de las grandes arterias; transposición congénitamente corregida de los grandes vasos","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Congenitally corrected transposition of the great arteries is a rare heart defect that occurs when the ventricles and attached valves are switched. As a result, the aorta and the pulmonary artery are connected to the wrong lower heart chambers.","Curated_Disease_Description_Source__c":"GARD:0001544","GARD_Synonym__c":"atrioventricular and ventriculo-arterial discordance; cctga; cctgv; congenitally corrected tga; congenitally corrected transposition of great arteries; congenitally corrected transposition of the great vessels; corrected transposition of great vessels; ctga; ctgv; discordant atrioventricular a ventriculo-arterial connections; discordant ventriculoarterial and atrioventricular connections; discordant ventriculoarterial connection with discordant atrioventricular connection; double discordance; l-tga; l-transposition; l-transposition of the great arteries; l-transposition of the great vessels; levo-transposition of the great arteries; levo-transposition of the great vessels; levotransposition of the great arteries; physiologically corrected transposition of the great vessels; transposition of great vessels with ventricular inversion; ventricular inversion; ventriculoarterial and atrioventricular discordance","Name":"Congenitally corrected transposition of the great arteries","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Adult Congenital Heart Association","Website__c":"https://www.achaheart.org/"},{"Account_Name__c":"American Heart Association","Website__c":"https://www.heart.org"},{"Account_Name__c":"Mended Hearts","Website__c":"https://mendedhearts.org/"},{"Account_Name__c":"The Children's Heart Foundation","Website__c":"https://www.childrensheartfoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Congenital Heart Disease","Tag_Category__c":"Specialist","curated_tag_name":"Congenital heart disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:216694"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=83799000","Source__c":"C0344616; MONDO:0016301","Xref__c":"83799000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000080041","Source__c":"C0344616; MONDO:0016301","Xref__c":"D000080041"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87489","Source__c":"C0344616","Xref__c":"MEDGEN:87489"},{"URL__c":"https://www.orpha.net/en/disease/detail/216694","Source__c":"C0344616; MONDO:0016301; ORPHA:216694","Xref__c":"ORPHA:216694"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0344616","Source__c":"C0344616","Xref__c":"C0344616"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98902","Source__c":"MONDO:0016301","Xref__c":"C98902"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0011540","Source__c":"C0344616","Xref__c":"HP:0011540"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016301","Source__c":"GARD:0001544","Xref__c":"MONDO:0016301"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An impairment of the electrical continuity between the atria and ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005150","HPO_Name__c":"Abnormal atrioventricular conduction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the tricuspid valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001702","HPO_Synonym__c":"Abnormality of the tricuspid valve","HPO_Name__c":"Abnormal tricuspid valve morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030148","HPO_Synonym__c":"Cardiac murmur; Cardiac murmurs; Heart murmur; Heart murmurs","HPO_Name__c":"Heart murmur","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011621","HPO_Name__c":"Gerbode ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011538","HPO_Name__c":"Atrial situs inversus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001696","HPO_Synonym__c":"All organs on wrong side of body; situs oppositus; situs transversus","HPO_Name__c":"Situs inversus totalis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any anomaly of the progression of electrical impulses through the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031546","HPO_Synonym__c":"Abnormality of cardiac conduction; Abnormality of cardiac conduction system; Cardiac conduction abnormalities; Cardiac conduction defects; Heart conduction disorder","HPO_Name__c":"Cardiac conduction abnormality","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010316","HPO_Synonym__c":"Ebstein's anomaly; Ebstein's anomaly of the tricuspid valve; Ebstein's malformation","HPO_Name__c":"Ebstein anomaly of the tricuspid valve","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004749","HPO_Name__c":"Atrial flutter","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011599","HPO_Name__c":"Mesocardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011682","HPO_Synonym__c":"Conoventricular ventricular septal defect; Membranous ventricular septal defect; Paramembranous ventricular septal defect; Perimembraneous ventricular septal defect; Type 2 ventricular septal defect","HPO_Name__c":"Perimembranous ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011663","HPO_Synonym__c":"Cardiomyopathy, right ventricular","HPO_Name__c":"Right ventricular cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001716","HPO_Name__c":"Wolff-Parkinson-White syndrome","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011704","HPO_Synonym__c":"Sinoatrial node disease","HPO_Name__c":"Sick sinus syndrome","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001627","HPO_Synonym__c":"Abnormality of cardiac morphology; Abnormality of the heart; Abnormally shaped heart; Cardiac abnormality; Cardiac anomalies; Cardiac anomaly; Congenital heart defect; Congenital heart defects; Heart defect","HPO_Name__c":"Abnormal heart morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001635","HPO_Synonym__c":"Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure","HPO_Name__c":"Congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005185","HPO_Name__c":"Global systolic dysfunction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A slower than normal heart rate (in adults, slower than 60 beats per minute).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001662","HPO_Synonym__c":"Brachycardia; Slow heartbeats","HPO_Name__c":"Bradycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005180","HPO_Synonym__c":"Tricuspid insufficiency; Tricuspid valve regurgitation","HPO_Name__c":"Tricuspid regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011707","HPO_Synonym__c":"Mobitz type 1 atrioventricular block; Wenckebach block","HPO_Name__c":"Mobitz I atrioventricular block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of an atrioventricular valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006705","HPO_Synonym__c":"Abnormality of the atrioventricular valves","HPO_Name__c":"Abnormal atrioventricular valve morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004756","HPO_Name__c":"Ventricular tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004755","HPO_Synonym__c":"Supraventricular tachyarrhythmia; SVT","HPO_Name__c":"Supraventricular tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001643","HPO_Synonym__c":"Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus","HPO_Name__c":"Patent ductus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012722","HPO_Name__c":"Heart block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001750","HPO_Synonym__c":"Common ventricle","HPO_Name__c":"Single ventricle","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001629","HPO_Synonym__c":"Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD","HPO_Name__c":"Ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004935","HPO_Synonym__c":"Atresia of the pulmonary artery; Pulmonary atresia","HPO_Name__c":"Pulmonary artery atresia","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001642","HPO_Synonym__c":"Narrowing of pulmonic valve; Pulmonary stenosis; Pulmonary valve stenosis; Pulmonic valve stenosis","HPO_Name__c":"Pulmonic stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001651","HPO_Synonym__c":"Heart tip and four chambers point towards right side of body; Thoracic situs inversus","HPO_Name__c":"Dextrocardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001659","HPO_Synonym__c":"Aortic insufficiency; Aortic valve regurgitation","HPO_Name__c":"Aortic regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the aortic valve leaflets.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031567","HPO_Name__c":"Abnormal aortic valve cusp morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011590","HPO_Name__c":"Double aortic arch","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the outflow tract of the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011103","HPO_Synonym__c":"Abnormality of the left ventricular outflow tract","HPO_Name__c":"Abnormal left ventricular outflow tract morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011705","HPO_Name__c":"First degree atrioventricular block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Common atrium without defining morphologic features.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011539","HPO_Synonym__c":"Atrial heterotaxy; Atrial situs ambiguus","HPO_Name__c":"Atrial situs ambiguous","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011552","HPO_Name__c":"Ambiguous atrioventricular connection","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006699","HPO_Synonym__c":"Atrial ectopic beats; Atrial premature complex; Ectopic supraventricular rhythms; PACs; Premature supraventricular beats","HPO_Name__c":"Premature atrial contractions","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011581","HPO_Name__c":"Double outlet left ventricle","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to fatigue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003388","HPO_Name__c":"Easy fatigability","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011688","HPO_Synonym__c":"Atrioventricular re-entry tachycardia","HPO_Name__c":"Supraventricular tachycardia with an accessory connection mediated pathway","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001709","HPO_Synonym__c":"Complete heart block","HPO_Name__c":"Third degree atrioventricular block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011553","HPO_Name__c":"Discordant atrioventricular connection","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000961","HPO_Synonym__c":"Blue discoloration of the skin","HPO_Name__c":"Cyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012537","HPO_Synonym__c":"Food intolerance; Non-allergic food hypersensitivity","HPO_Name__c":"Food intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:216694","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011667","HPO_Name__c":"Bilateral superior vena cava with bridging vein","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cardiology","Congenital Heart Disease","Pediatrics"],"Disease Category":["Congenital Abnormality"]},"synonyms":["atrioventricular and ventriculo-arterial discordance"," cctga"," cctgv"," congenitally corrected tga"," congenitally corrected transposition of great arteries"," congenitally corrected transposition of the great vessels"," corrected transposition of great vessels"," ctga"," ctgv"," discordant atrioventricular a ventriculo-arterial connections"," discordant ventriculoarterial and atrioventricular connections"," discordant ventriculoarterial connection with discordant atrioventricular connection"," double discordance"," l-tga"," l-transposition"," l-transposition of the great arteries"," l-transposition of the great vessels"," levo-transposition of the great arteries"," levo-transposition of the great vessels"," levotransposition of the great arteries"," physiologically corrected transposition of the great vessels"," transposition of great vessels with ventricular inversion"," ventricular inversion"," ventriculoarterial and atrioventricular discordance"]}