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CHDEPCC:06.01.01

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Tricuspid atresia

  Chromosomal map of CHD genes and imbalances.

Non syndromic associated genes overview

MYH6 (2, 100%)
http://www.childrenshospital.org/az/Site508/mainpageS508P0.html
http://www.childrenshospital.org/az/Site508/mainpageS508P0.html

Tricuspid atresia is a form of congenital heart disease whereby there is a complete absence of the tricuspid valve. Therefore, there is an absence of right atrioventricular connection. This leads to a hypoplastic or an absence of the right ventricle.

Because of the lack of an A-V connection, an atrial septal defect (ASD) must be present to maintain blood flow. Also, since there is a lack of a right ventricle there must be a way to pump blood into the pulmonary arteries, and this is accomplished by a ventricular septal defect (VSD).

Blood is mixed in the left atrium. Because the only way the pulmonary circulation receives blood is through the VSD, a patent ductus arteriosus is usually also formed to increase pulmonary flow.

External references for Tricuspid atresia

  • Search GeneTests/GeneReviews : link1

Genes for phenotype 06.01.01:Tricuspid atresia

Non-syndromic

  
 HEY2 edit association
  • Support: no good correlation between CHD type and candidate gene
  • References: PMID:15643620 (population study with screening of similar CHD patients and normal controls modify) PMID:15389319 (population study with screening of similar CHD patients and normal controls modify)
  • Inheritance: Nonsyndromic Tricuspid atresia in mice: not confirmed in humans
  • Incidence: Sarkozy et al., 2005 screened 40 individuals affected by nonsyndromic tricuspid atresia for ZFPM2/FOG2 and HEY2 gene mutations. Fischer et al., 2004 sequenced HEY2 in 4 unrelated probands with with tricuspid atresia (TA)). In neither study a pathogenetic mutation has been identified, thus failing to demonstrate a major role of HEY2 in the pathogenesis of human tricuspid atresia.
  • Comments:
  • Studies: (2)
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 FOG2/ZFPM2 edit association
  • Support: no good correlation between CHD type and candidate gene
  • References: PMID:10888889 (basic research modify) PMID:15643620 (population study with screening of similar CHD patients and normal controls modify)
  • Inheritance: Nonsyndromic Tricuspid atresia in mice: not confirmed in humans
  • Incidence: 0/40 TA
  • Comments:
  • Studies: (1)
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 MYH6 edit association
  • Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene)
  • References: PMID:20656787 (population study with screening of similar CHD patients and normal controls modify)
  • Inheritance: Autosomal dominant non-syndromic tricupid atresia with reduced penetrance and variable expression.
  • Incidence:
  • Comments:
  • Studies: (1)
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Syndromic

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Regions for phenotype 06.01.01:Tricuspid atresia

Region Patients References OMIM Comments

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Translocations 06.01.01:Tricuspid atresia

Region References OMIM Comments

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Patients reports for 06.01.01:Tricuspid atresia

Automated text-mining genes found for 06.01.01:Tricuspid atresia

AGeneApart Method

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This page contributors

  • Jeroen Breckpot - CME Leuven (Belgium) (association, mutation, study)

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