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.
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.
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
Critical 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.\n\nPeople 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.
Aortic arch interruption- MedGen UID:
- 57773
- •Concept ID:
- C0152419
- •
- Congenital Abnormality
Non-continuity of the arch of aorta with an atretic point or absent segment.
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.
Pulmonary artery hypoplasia- MedGen UID:
- 75585
- •Concept ID:
- C0265910
- •
- Congenital Abnormality
Underdevelopment of the pulmonary artery.
Mitral atresia disorder- MedGen UID:
- 91035
- •Concept ID:
- C0344760
- •
- Congenital Abnormality
A congenital defect with failure to open of the mitral valve orifice.
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.
Abnormal aortic valve morphology- MedGen UID:
- 488999
- •Concept ID:
- C3164445
- •
- Anatomical Abnormality
Any abnormality of the aortic valve.
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.
Abnormal tricuspid valve morphology- MedGen UID:
- 871267
- •Concept ID:
- C4025753
- •
- Anatomical Abnormality
Any structural anomaly of the tricuspid valve.
Hypoplasia of right ventricle- MedGen UID:
- 903846
- •Concept ID:
- C4082954
- •
- Anatomical Abnormality
Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.
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.
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).
Abnormal cardiac septum morphology- MedGen UID:
- 1830392
- •Concept ID:
- C5779791
- •
- Anatomical Abnormality
An anomaly of the intra-atrial or intraventricular septum.
Heterotaxy- MedGen UID:
- 75620
- •Concept ID:
- C0266642
- •
- Congenital Abnormality
An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body.
Intestinal malrotation- MedGen UID:
- 113153
- •Concept ID:
- C0221210
- •
- Congenital Abnormality
An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
Polysplenia- MedGen UID:
- 383959
- •Concept ID:
- C1856659
- •
- Congenital Abnormality
Polysplenia is a congenital disease manifested by multiple small accessory spleens.
Cyanosis- MedGen UID:
- 1189
- •Concept ID:
- C0010520
- •
- Sign or Symptom
Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the integument
- Growth abnormality