Congenital absence of pulmonic valve

Known as: Absence of the pulmonary valve, Absent pulmonary valve, Congenital absence of pulmonary valve 
Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries. [DDD:dbrown… (More)
National Institutes of Health

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2 relations
Congenital atresia of pulmonary valveDeletion of long arm of chromosome 18

Papers overview

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Review
2010
Review
2010
Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome.
Cardiovascular anomalies are present in 80% of neonates with 22q11.2 deletion syndrome. Three genes in chromosome 22q11.2 (TBX1… (More)
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2008
2008
Prediction of outcome of tricuspid valve malformations diagnosed during fetal life.
There are conflicting reports on the prenatal validity of echocardiographic indexes used to assess tricuspid valve malformations… (More)
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2006
2006
Prenatal diagnosis and outcome for fetuses with congenital absence of the pulmonary valve.
OBJECTIVES To analyze fetal echocardiographic findings of absent pulmonary valve syndrome (APVS), its association with… (More)
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2004
2004
Characteristics, associations and outcome of absent pulmonary valve syndrome in the fetus.
OBJECTIVES To assess in a population of 21 fetuses diagnosed with absent pulmonary valve syndrome (APVS) the accuracy of prenatal… (More)
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Highly Cited
2001
Highly Cited
2001
Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.
Tetralogy of Fallot (ToF) is the most common form of complex congenital heart disease, occurring in approximately 1 in 3000 live… (More)
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1999
1999
Tetralogy of Fallot with absent pulmonary valve: a surgical technique for complete repair.
 
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1997
1997
Prenatal diagnosis of 22q11 deletions: a series of five cases with congenital heart defects.
We report a series of five patients with congenital heart defects in whom a prenatal diagnosis of 22q11 deletion has been made… (More)
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1995
1995
Deletion within chromosome 22 is common in patients with absent pulmonary valve syndrome.
Interstitial deletions in chromosome 22 and features associated with CATCH-22 syndrome have been reported in patients with… (More)
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Review
1987
Review
1987
[Congenital absence of the pulmonary valve].
APV can be associated with simple or complex cardiovascular malformation. It occurs as an isolated anomaly in nonsyndromic… (More)
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1978
1978
The absent pulmonary valve syndrome. Considerations of management.
The absent pulmonary valve syndrome consists of a severely hypoplastic pulmonary valve with anular stenosis, aneurysmal… (More)
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