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Items: 8

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.

Atrioventricular canal defect

MedGen UID:
832309
Concept ID:
CN227852
Finding
3.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
4.

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 OMIM]

MedGen UID:
342900
Concept ID:
C1853513
Finding
5.

Atrioventricular canal defect

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

MedGen UID:
235591
Concept ID:
C1389016
Congenital Abnormality
6.

Atrioventricular septal defect and common atrioventricular junction

MedGen UID:
83375
Concept ID:
C0344783
Congenital Abnormality
7.

Endocardial cushion defect

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

MedGen UID:
41778
Concept ID:
C0014116
Congenital Abnormality
8.

Left atrioventricular valve regurgitation

MedGen UID:
576571
Concept ID:
C0344857
Congenital Abnormality
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