Sinus venosus ASD

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  Chromosomal map of CHD genes and imbalances.

http://pediatriccardiology.uchicago.edu/MP/CHD/ASD

Atrial septal defect (ASD) is a form of congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The interatrial septum is the tissue that divides the right and left atria. Without this septum, or if there is a defect in this septum, it is possible for blood to travel from the left side of the heart to the right side of the heart, or vice versa. Irrespective of interatrial communication bi-directions, this results in the mixing of arterial and venous blood.
The interatrial communication in sinus venosus ASD is located outside the floor of the fossa ovalis, in the mouth of usually the superior, but sometimes the inferior, vena cava.

External references for Sinus venosus ASD

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Genes for phenotype 05.05.00:Sinus venosus ASD

Non-syndromic

NKX2-5/NKX2.5

Support: unconfirmed: a single case report References: PMID:12414819 (population study with screening of similar CHD patients and normal controls ) Inheritance: Nonsyndromic familial sinus venosus atrial septal defect with AV block Incidence: Novel frameshift mutations in NKX2.5 in 2 families with with autosomal dominant ASD and/or AV conductive abnormalities (In one family, the proband had visceral inversus, polysplenia and a symmetrical liver as well as ASD; in the same family 3 patients with sinus venosus type ASD (Watanabe Y et al., 2002). Comments: Studies: (1) [ show ] [ hide ] Reference: PMID:12414819 Incidence: 1/1 patients Comments: Novel frameshift mutations in NKX2.5 in 2 families with with autosomal dominant ASD and/or AV conductive abnormalities (In one family, the proband had visceral inversus, polysplenia and a symmetrical liver as well as ASD; in the same family 3 patients with sinus venosus type ASD (Watanabe Y et al., 2002). Add another study.

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Syndromic

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Regions for phenotype 05.05.00:Sinus venosus ASD

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Translocations 05.05.00:Sinus venosus ASD

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Patients reports for 05.05.00:Sinus venosus ASD

Automated text-mining genes found for 05.05.00:Sinus venosus ASD

AGeneApart Method

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