From HPO
Coarctation of aorta- MedGen UID:
- 1617
- •Concept ID:
- C0003492
- •
- Congenital Abnormality
Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
Dextrocardia- MedGen UID:
- 4255
- •Concept ID:
- C0011813
- •
- Congenital Abnormality
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.
Double outlet right ventricle- MedGen UID:
- 41649
- •Concept ID:
- C0013069
- •
- Congenital Abnormality
Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.
Patent ductus arteriosus- MedGen UID:
- 4415
- •Concept ID:
- C0013274
- •
- Congenital Abnormality
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.
Patent foramen ovale- MedGen UID:
- 8891
- •Concept ID:
- C0016522
- •
- Congenital Abnormality
Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.
Atrial septal defect- MedGen UID:
- 6753
- •Concept ID:
- C0018817
- •
- Congenital Abnormality
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.
Ventricular septal defect- MedGen UID:
- 42366
- •Concept ID:
- C0018818
- •
- Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Right aortic arch- MedGen UID:
- 48474
- •Concept ID:
- C0035615
- •
- Congenital Abnormality
Aorta descends on right instead of on the left.
Hypoplastic left heart syndrome- MedGen UID:
- 57746
- •Concept ID:
- C0152101
- •
- Disease or Syndrome
People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.\n\nCritical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.
Single ventricle- MedGen UID:
- 56289
- •Concept ID:
- C0152424
- •
- Congenital Abnormality
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.
Partial anomalous pulmonary venous return- MedGen UID:
- 450995
- •Concept ID:
- C0158634
- •
- Congenital Abnormality
A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung.
Complete atrioventricular canal- MedGen UID:
- 65132
- •Concept ID:
- C0221215
- •
- Congenital Abnormality
A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.
Hypoplastic aortic arch- MedGen UID:
- 507001
- •Concept ID:
- C0265881
- •
- Congenital Abnormality
Underdevelopment of the arch of aorta.
Double aortic arch- MedGen UID:
- 488819
- •Concept ID:
- C0265883
- •
- Congenital Abnormality
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).
Pulmonary artery atresia- MedGen UID:
- 82723
- •Concept ID:
- C0265908
- •
- Congenital Abnormality
A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.
Discordant atrioventricular connection- MedGen UID:
- 488859
- •Concept ID:
- C0344615
- •
- Congenital Abnormality
Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart.
Congenitally corrected transposition of the great arteries- MedGen UID:
- 87489
- •Concept ID:
- C0344616
- •
- Congenital Abnormality
The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta.
Double inlet right ventricle- MedGen UID:
- 488861
- •Concept ID:
- C0344621
- •
- Congenital Abnormality
The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic.
Common atrium- MedGen UID:
- 488886
- •Concept ID:
- C0392482
- •
- Congenital Abnormality
Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.
Pulmonic stenosis- MedGen UID:
- 408291
- •Concept ID:
- C1956257
- •
- Disease or Syndrome
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).
Left superior vena cava draining to coronary sinus- MedGen UID:
- 393830
- •Concept ID:
- C2677768
- •
- Finding
A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence.
Dextrotransposition of the great arteries- MedGen UID:
- 758887
- •Concept ID:
- C3531771
- •
- Congenital Abnormality
A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.
Single coronary artery origin- MedGen UID:
- 868841
- •Concept ID:
- C4023251
- •
- Anatomical Abnormality
The presence of a single coronary artery ostium from which both coronary arteries arise.
Situs inversus- MedGen UID:
- 1642262
- •Concept ID:
- C4551493
- •
- Congenital Abnormality
A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.
Abdominal situs ambiguus- MedGen UID:
- 1622585
- •Concept ID:
- C4531036
- •
- Anatomical Abnormality
An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements.
Left Isomerism- MedGen UID:
- 1640720
- •Concept ID:
- C4703575
- •
- Congenital Abnormality
A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures.
- Abnormality of the cardiovascular system
- Growth abnormality