Pulmonary atresia

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  Chromosomal map of CHD genes and imbalances.

Non syndromic associated genes overview

NODAL (8, 100%)

http://www.chop.edu/consumer/your_child/condition_section_index.jsp?id=-9321

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

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Genes for phenotype 09.05.11:Pulmonary atresia

Non-syndromic

NODAL

Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene) References: PMID:19064609 (population study with screening of similar CHD patients and normal controls ) Inheritance: Significant reductions in the biological activity of NODAL alleles are detected among patients with congenital heart defects, lateraltity anomalies, and only rarely holoprosencephaly. Incidence: Comments: Studies: (1) [ show ] [ hide ] Reference: PMID:19064609 Incidence: 8/53 patients Comments: Mohapatra et al., 2009 screened for NODAL mutations in 269 unrelated probands with either sporadic or familial heterotaxy or heterotaxy-related congenital cardiovascular defects (53 with pulmonary atresia). This revealed four heterozygous missense variants, one in-frame insertion/deletion and two conserved splice site variants. One missense mutation was detected in 8 of the 82 unrelated Hispanic cases. All 14 mutation carriers presented with heterotaxy-related cardiovascular anomalies, 6 of them presented with additional abdominal situs abnormalities (one with right atrial isomerism). Transposition of the great arteries (d-TGA) was present in 10 out of the 14 mutation carriers, dextrocardia in 5 (one case with d-TGA and 2 with L-TGA (ventricular inversion)). In addition, 7 mutation carriers presented with a single ventricle, 8 with pulmonary atresia, 2 with pulmonic stenosis and 1 with a hypoplastic aortic arch. Other associated CHDs were: DORV in 3 cases, ASD type secundum in 8, AVSD in 2, common atrium in a single case and VSD in 5 cases. Vascular anomalies consisted of TAPVR in 4 cases, IVC abnormalities in 4 and left SVC in 2 cases. Add another study.

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Syndromic

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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

AGeneApart Method

• S100A10 (sig = 2.196) ENSG00000197747

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• JAG1 (sig = 1.71) ENSG00000101384

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This page contributors

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