| HPO |
HP:0011568 |
Double orifice mitral valve |
"The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue." [DDD:dbrown, HPO:probinson, PMID:20851840] |
In about 50% of Double orifice mitral valve (DOMV) cases, valvular function is normal, others present with stenosis or regurgitation. In most cases, a larger orifice is accompanied by a small eccentric accessory orifice, and some show duplicated mitral valves. Embryologically, the lesion results from abnormal leaflet fusion and persistence of the left part of the common atrio-ventricular canal. |
HP:0001633 |
| HPO |
HP:0011569 |
Cleft anterior mitral valve leaflet |
"Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect." [DDD:dbrown, PMID:6829465] |
— |
HP:0031480 |
| HPO |
HP:0011570 |
Congenital mitral stenosis |
"Mitral stenosis with congenital onset." [DDD:dbrown] |
— |
HP:0001718 |
| HPO |
HP:0011571 |
Parachute mitral valve |
"Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles." [DDD:dbrown] |
— |
HP:0025523 |
| HPO |
HP:0011572 |
Supramitral ring |
"A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve." [DDD:dbrown] |
— |
HP:0001633 |
| HPO |
HP:0011573 |
Hypoplastic tricuspid valve |
"Congenital defect characterized by underdevelopment of the tricuspid valve." [DDD:dbrown] |
— |
HP:0001702 |
| HPO |
HP:0011574 |
Imperforate atrioventricular valve |
"An atrioventricular valve that has failed to open (atretic)." [DDD:dbrown] |
— |
HP:0006705 |
| HPO |
HP:0011575 |
Imperforate tricuspid valve |
"A tricuspid valve that has failed to open." [DDD:dbrown, PMID:7066117] |
Imperforate valve is distinct from atretic valve. The hallmark of an imperforate valve is that it provides potential communication between an atrium and a ventricle. It exists as fused valve leaflets usually possessing their own hypoplastic tensor apparatus. The presence of an imperforate valve may have important surgical implications. Imperforate valve is in contrast to atretic valve with an absent atrioventricular connection. The cornerstone of the diagnosis of an imperformate valve is the identification of a thin mobile membrane between an atrium and a ventrile and the recognition of the tensor apparatus of the valve. In most cases the tensor apparatusis hypoplastic and it maynot be possible to delineate it by echocardiography. |
HP:0001702, HP:0011574 |
| HPO |
HP:0011576 |
Intermediate atrioventricular canal defect |
"A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices." [DDD:dbrown] |
— |
HP:0006695 |
| HPO |
HP:0011577 |
Partial atrioventricular canal defect |
"A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices." [DDD:dbrown] |
— |
HP:0006695 |
| HPO |
HP:0011578 |
Transitional atrioventricular canal defect |
"A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices." [DDD:dbrown] |
— |
HP:0006695 |
| HPO |
HP:0011579 |
Unbalanced atrioventricular canal defect |
"Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced)." [DDD:dbrown, PMID:20837915] |
— |
HP:0006695 |
| HPO |
HP:0011580 |
Short chordae tendineae of the mitral valve |
"Abnormally short chordae tendineae of the mitral valve." [HPO:probinson] |
The chordae tendineae connect the papillary muscles to the tricuspid valve and the mitral valve in the heart. |
HP:0025523 |
| HPO |
HP:0011581 |
Double outlet left ventricle |
"A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle." [HPO:probinson] |
— |
HP:0001711 |
| HPO |
HP:0011582 |
Abdominal ectopia cordis |
"Displacement of the heart outside the thoracic cavity and into the abdomen." [DDD:dbrown] |
— |
HP:0001683 |
| HPO |
HP:0011583 |
Cervical ectopia cordis |
"A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum." [DDD:dbrown, HPO:probinson] |
This type of ectopia cordis presumably represents a retention of the heart in its embryonic position in the neck. |
HP:0001683 |
| HPO |
HP:0011584 |
Thoracocervical ectopia cordis |
"A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum." [DDD:dbrown, HPO:probinson] |
— |
HP:0001683 |
| HPO |
HP:0011585 |
Thoracic ectopia cordis |
"Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum." [DDD:dbrown, HPO:probinson] |
— |
HP:0001683 |
| HPO |
HP:0011586 |
Thoracoabdominal ectopia cordis |
"Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity." [DDD:dbrown, HPO:probinson, PMID:19479716] |
In many cases, thoracicoabdominal ectopia cordis is characterized by partial absence or cleft of the sternum, deficiency of the anterior diaphragm, deficiency of the diaphragmatic pericardium, midline abdominal wall defect, and congenital intracardiac abnormalities. These five characteristics comprise the pentalogy of Cantrell. |
HP:0001683 |
| HPO |
HP:0011587 |
Abnormal branching pattern of the aortic arch |
"A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries." [DDD:dbrown] |
The normal aortic arch crosses the left mainstem bronchus and descends in the left paravertebral gutter. The coronary arteries arise from the aortic sinuses. The first branch of the aorta is normally the right brachiocephalic artery, then the left common carotid artery, then the left subclavian artery. Abnormal branching refers to any deviance from the norm of the origin or course of these branches or the proximal vertebral arteries. An anomaly of the aortic arch that results in complete encirclement of the trachea and oesophagus by vascular structures is a vascular ring. |
HP:0012303 |
| HPO |
HP:0011588 |
Cervical aortic arch |
"The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta." [DDD:dbrown] |
— |
HP:0011587 |
| HPO |
HP:0011589 |
Common origin of the right brachiocephalic artery and left common carotid artery |
"The left common carotid artery has a common origin with the innominate artery." [DDD:dbrown, HPO:probinson, PMID:17138027] |
Commonly the three great vessels (innominate artery, left common carotid artery, and the left subclavian artery) originate from the arch of the aorta. The second most common variant of aortic arch branching occurs when the left common carotid artery has a common origin with the innominate artery. |
HP:0011587 |
| HPO |
HP:0011590 |
Double aortic arch |
"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)." [DDD:dbrown, HPO:probinson, PMID:15148283, PMID:15564538] |
— |
HP:0011587 |
| HPO |
HP:0011591 |
Left aortic arch with cervical origin of the right subclavian artery |
— |
— |
HP:0031055 |
| HPO |
HP:0011592 |
Left aortic arch with isolated subclavian artery |
"The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis." [DDD:dbrown] |
— |
HP:0031055 |