From HPO
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.
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.
Transposition of the great arteries- MedGen UID:
- 21245
- •Concept ID:
- C0040761
- •
- Congenital Abnormality
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.
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.
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.
Bilateral superior vena cava- MedGen UID:
- 576402
- •Concept ID:
- C0344659
- •
- Congenital Abnormality
The presence of a left and a right superior vena cava.
Common atrium- MedGen UID:
- 488886
- •Concept ID:
- C0392482
- •
- Congenital Abnormality
Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.
Atrioventricular canal defect- MedGen UID:
- 235591
- •Concept ID:
- C1389016
- •
- Anatomical Abnormality
A defect of the atrioventricular septum of the heart.
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.
Interrupted inferior vena cava with azygous continuation- MedGen UID:
- 868827
- •Concept ID:
- C4023237
- •
- Congenital Abnormality
Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava.
Congenital total pulmonary venous return anomaly- MedGen UID:
- 1648157
- •Concept ID:
- C4551903
- •
- Disease or Syndrome
Total anomalous pulmonary venous return (TAPVR) is a cyanotic form of congenital heart defect in which the pulmonary veins fail to enter the left atrium and instead drain into the right atrium or one of the venous tributaries (summary by Bleyl et al., 1994).
Midline liver- MedGen UID:
- 766591
- •Concept ID:
- C3553677
- •
- Anatomical Abnormality
Position of the liver across the middle of the body instead of being in its normal position to the right of the stomach.
Ectopia of the spleen- MedGen UID:
- 451027
- •Concept ID:
- C0266632
- •
- Congenital Abnormality
An abnormal (non-anatomic) location of the spleen.
Polysplenia- MedGen UID:
- 383959
- •Concept ID:
- C1856659
- •
- Congenital Abnormality
Polysplenia is a congenital disease manifested by multiple small accessory spleens.
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the immune system