| HPO |
HP:0011643 |
Coronary sinus atrial septal defect |
"An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus." [DDD:dbrown, HPO:probinson, PMID:18806021] |
— |
HP:0011642 |
| HPO |
HP:0011644 |
Coronary sinus diverticulum |
"A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus." [DDD:dbrown, PMID:3138904] |
— |
HP:0011642 |
| HPO |
HP:0011645 |
Dilatation of the sinus of Valsalva |
"Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve." [UBERON_0003707] |
Aneurysm is considered a severe form of dilatation. |
HP:0004970 |
| HPO |
HP:0011646 |
Juxtaductal coarctation of the aorta |
"Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch." [DDD:dbrown, HPO:probinson] |
Juxtaductal coarctation usually presents when the ductus arteriosus closes. |
HP:0012305 |
| HPO |
HP:0011647 |
Postductal coarctation of the aorta |
"Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch." [DDD:dbrown] |
Blood flow to the aorta distal to the coarctation may be dependent on a patent ductus arteriosus, and hence closure of the ductus arteriosus can lead to serious ischemia of the affected tissues. |
HP:0012305 |
| HPO |
HP:0011648 |
Patent ductus arteriosus after birth at term |
"Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater." [DDD:dbrown] |
— |
HP:0001643 |
| HPO |
HP:0011649 |
Patent ductus arteriosus after premature birth |
"Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation." [DDD:dbrown] |
— |
HP:0001643 |
| HPO |
HP:0011650 |
Bilateral ductus arteriosus |
"The presence of both a left and a right ductus arteriosus." [DDD:dbrown] |
— |
HP:0001643 |
| HPO |
HP:0011651 |
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis |
"A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702] |
— |
HP:0001719 |
| HPO |
HP:0011652 |
Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis |
"A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702] |
— |
HP:0001719 |
| HPO |
HP:0011653 |
Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis |
"A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:10431853] |
— |
HP:0001719 |
| HPO |
HP:0011654 |
Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis |
"A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:10431853] |
— |
HP:0001719 |
| HPO |
HP:0011655 |
Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis |
"A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702] |
— |
HP:0001719 |
| HPO |
HP:0011656 |
Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis |
"A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702] |
— |
HP:0001719 |
| HPO |
HP:0011657 |
Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis |
"A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702] |
— |
HP:0001719 |
| HPO |
HP:0011658 |
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis |
"A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:20069085, PMID:6193702] |
— |
HP:0001719 |
| HPO |
HP:0011659 |
Tetralogy of Fallot with absent pulmonary valve |
"Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue." [DDD:dbrown] |
— |
HP:0001636, HP:0005134 |
| HPO |
HP:0011660 |
Anomalous origin of one pulmonary artery from ascending aorta |
"Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle." [DDD:dbrown, PMID:2590592] |
Origin of a pulmonary artery from the aorta is also known as hemitruncus. One pulmonary artery branch, usually the right, arises from the ascending aorta just above the aortic sinuses, while the main pulmonary artery and the other pulmonary branch arise in their normal position from the right ventricle. |
HP:0030966 |
| HPO |
HP:0011661 |
Anomalous origin of left pulmonary artery from ascending aorta |
"The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery." [DDD:dbrown] |
— |
HP:0011660 |
| HPO |
HP:0011662 |
Tricuspid atresia |
"Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle." [DDD:dbrown, HPO:probinson] |
— |
HP:0001702 |
| HPO |
HP:0011663 |
Right ventricular cardiomyopathy |
"Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease." [HPO:probinson, PMID:17916581] |
This feature is most often seen in the disease arrhythmogenic right ventricular cardiomyopathy (ARVC). ARVC is defined histologically by the presence of progressive replacement of right ventricular myocardium with adipose and fibrous tissue often confined to a triangle of dysplasia comprising the right ventricular inflow, outflow, and apex. While these pathologic abnormalities can result in functional and morphological right ventricular abnormalities, they also occur in the left ventricle, producing a DCM phenotype, or can be present in the absence of clinically detectable structural changes in either ventricle. For the purposes of this classification, ARVC is defined by the presence of right ventricular dysfunction (global or regional), with or without left ventricular disease, in the presence of histological evidence for the disease and/or electrocardiographic abnormalities in accordance with published criteria. |
HP:0001638 |
| HPO |
HP:0011664 |
Left ventricular noncompaction cardiomyopathy |
"Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." [PMID:17916581] |
Left ventricular noncompaction cardiomyopathy (LVNC), also known as spongy myocardium, is a distinct form of cardiomyopathy occurring in-utero when segments of spongy myocardium fail to transform into compact, mature musculature resulting in prominent myocardial trabeculae, deep intra-trabecular recesses, and decreased cardiac function. It has been proposed that LVNC results from arrest of the compaction process during the second month of embryological development. |
HP:0012817 |
| HPO |
HP:0011665 |
Takotsubo cardiomyopathy |
"Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation." [PMID:17916581] |
— |
HP:0001638 |
| HPO |
HP:0011666 |
Absent right superior vena cava |
"Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium." [DDD:dbrown, PMID:17578953, PMID:19808620, PMID:20532458] |
The superior vena cava is formed by the left and right brachiocephalic (innominate) veins, which receive blood from the arms, head and neck. |
HP:0005301 |
| HPO |
HP:0011667 |
Bilateral superior vena cava with bridging vein |
— |
— |
HP:0033379 |