Non syndromic associated genes overview
Pulmonary atresia (PA) is a cyanotic congenital heart disease characterized by underdevelopment of the right ventricular (RV) outflow tract (ie, subpulmonary infundibulum) with atresia of the pulmonary valve. In most cases pulmonary atresia is associated with a ventricular septal defect (PA-VSD) and overriding of the aorta. Pulmonary circulation may be supplied by a patent ductus arteriosus (PDA), systemic-to-pulmonary collaterals, or plexuses of bronchial and pleural arteries.
The associated VSD may be membranous or infundibular. In 50% of patients, a secundum-type atrial septal defect (ASD) or a patent foramen ovale (PFO) also is present. In 26-50% of patients, the aorta arises predominantly from the RV and a dilated right-sided aortic arch may be present.
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
Genes for phenotype 09.05.11:Pulmonary atresia
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Regions for phenotype 09.05.11:Pulmonary atresia
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Translocations 09.05.11:Pulmonary atresia
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Patients reports for 09.05.11:Pulmonary atresia
- case 11 Clinical data Phenotype
- case 45 Clinical data Phenotype
- case 1335 Clinical data Phenotype
- case 1477 Clinical data Phenotype
Automated text-mining genes found for 09.05.11:Pulmonary atresia
This page contributors
- Jeroen Breckpot - CME Leuven (Belgium) (association, study)