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Items: 14

1.

Complete atrioventricular canal defect

A congenital heart defect characteizred by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. [from HPO]

MedGen UID:
501123
Concept ID:
C1389018
Congenital Abnormality
2.

Double outlet right ventricle

A rare congenital cardiovascular abnormality in which both the aorta and the pulmonary artery arise from the right ventricle. [from NCI]

MedGen UID:
41649
Concept ID:
C0013069
Congenital Abnormality
3.

Tetralogy of Fallot

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.Although 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.Some 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.Each 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.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. [from GTR]

MedGen UID:
21498
Concept ID:
C0039685
Congenital Abnormality
4.

Hypoplastic right heart; intrauterine growth retardation

MedGen UID:
850712
Concept ID:
CN231400
Finding
5.

Tetralogy of Fallot; single umbilical artery; absent thumb; abnormality of the vertebrae

MedGen UID:
850704
Concept ID:
CN231389
Finding
6.

Hypoplastic right heart; tricuspid atresia; muscular ventricular septal defect; single umbilical artery

MedGen UID:
850701
Concept ID:
CN231394
Finding
7.

Atrioventricular canal defect

MedGen UID:
832309
Concept ID:
CN227852
Finding
8.

Right

Being located on the right side of the body. [from HPO]

MedGen UID:
619189
Concept ID:
C0444532
Spatial Concept
9.

Double outlet right ventricle

Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle. [from HPO]

MedGen UID:
504930
Concept ID:
CN001564
Finding
10.

Tetralogy of Fallot

A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. [from HPO]

MedGen UID:
504882
Concept ID:
CN001489
Finding
11.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
12.

Atrioventricular septal defect

The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006). AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (190685), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (208530) (summary by Carmi et al., 1992). Genetic Heterogeneity of Isolated Atrioventricular Septal Defect An AVSD susceptibility locus (AVSD1) maps to chromosome 1p31-p21; AVSD2 (606217) is caused by mutation in the CRELD1 gene (607170) on chromosome 3p25; AVSD3 (600309) is caused by mutation in the GJA1 gene (121014) on chromosome 6q22; AVSD4 (614430) is caused by mutation in the GATA4 gene (600576) on chromosome 8p23.1; and AVSD5 (614474) is caused by mutation in the GATA6 gene (601656) on chromosome 18q11. Somatic mutations in the HAND1 gene (602406) have been identified in tissue samples from patients with AVSDs. [from GTR]

MedGen UID:
342900
Concept ID:
C1853513
Finding
13.

Atrioventricular canal defect

A defect of the atrioventricular septum of the heart. [from HPO]

MedGen UID:
235591
Concept ID:
C1389016
Anatomical Abnormality
14.

Atrioventricular septal defect and common atrioventricular junction

MedGen UID:
83375
Concept ID:
C0344783
Congenital Abnormality
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