Pulmonary atresia + intact ventricular septum

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  Chromosomal map of CHD genes and imbalances.

Pulmonary atresia with intact ventricular septum (PAIVS) is a rare congenital cardiac lesion characterized by heterogeneous right ventricular development, an imperforate pulmonary valve, and possible extensive ventriculocoronary connections. Prognosis and management depend on the degree of right ventricular hypoplasia (including tricuspid valve hypoplasia) and the dependency of the myocardial blood supply on abnormal communications between the right ventricle and coronary arteries. PAIVS has an obligatory right-to-left atrial-level shunt (through a patent foramen ovale or secundum-type atrial septal defect). Pulmonary blood flow usually depends on a patent ductus arteriosus.

External references for Pulmonary atresia + intact ventricular septum

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Genes for phenotype 01.01.07:Pulmonary atresia + intact ventricular septum

Non-syndromic

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Syndromic

JAG1

Support: unconfirmed: a single case report References: PMID:12427653 (population study with screening of similar CHD patients and normal controls ) Syndromes: Alagille Syndrome (OMIM:118450) is an autosomal dominant disorder characterized by neonatal jaundice, eye anomalies (posterior embryotoxon and retinal pigmentary changes), cardiac anomalies (pulmonic valvular stenosis, ToF, peripheral arterial stenosis), bone defects ('butterfly' vertebrae and decrease in interpediculate distance in the lumbar spine), neurological abnormalities (absent deep tendon reflexes and poor school performance) and facial dysmorphic features (broad forehead, pointed mandible and bulbous tip of the nose). Incidence: McElhinney et al. studied the spectrum of cardiac anomalies associated with JAG1 positive Alagille syndrome. Mutations in the JAG1 gene were found in 154 out of 200 individuals with Alagille syndrome. Cardiac anomalies were present in 119 individuals carrying a JAG1 mutation. Eleven patients presented with valvar pulmonary stenosis (7%), 60 with branch pulmonary stenosis (39%), 20 with Tetralogy of Fallot (13%), 9 with left-sided anomalies (6%), and other CHD in 17 individuals (VSD in 4%, ASD in 5%,...). One patient with Alagille syndrome presented with pulmonary atresia with an intact ventricular septum. Comments: Studies: (1) [ show ] [ hide ] Reference: PMID:12427653 Incidence: 1/154 patients Comments: McElhinney et al. studied the spectrum of cardiac anomalies associated with JAG1 positive Alagille syndrome. Mutations in the JAG1 gene were found in 154 out of 200 individuals with Alagille syndrome. Cardiac anomalies were present in 119 individuals carrying a JAG1 mutation. Eleven patients presented with valvar pulmonary stenosis (7%), 60 with branch pulmonary stenosis (39%), 20 with Tetralogy of Fallot (13%), 9 with left-sided anomalies (6%), and others CHD in 17 individuals (VSD in 4%, ASD in 5%,...). One patient presented with pulmonary atresia with an intact ventricular septum. Add another study.

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Regions for phenotype 01.01.07:Pulmonary atresia + intact ventricular septum

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Translocations 01.01.07:Pulmonary atresia + intact ventricular septum

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Patients reports for 01.01.07:Pulmonary atresia + intact ventricular septum

Automated text-mining genes found for 01.01.07:Pulmonary atresia + intact ventricular septum

AGeneApart Method

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This page contributors

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