Pulmonary Atresia with Intact Ventricular Septum and Major Aortopulmonary Collaterals: Association with Deletion 22q11.2

Li, C.; Chudley, Albert E.; Soni, Reeni; Divekar, Abhay

doi:10.1007/s00246-003-0495-2

Cited by 7 publications

(4 citation statements)

References 8 publications

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“…With confluent pulmonary arteries, significant MAPCAs do not typically develop. This is reflected by few reports of such cases [4,[9][10][11][12].…”

Section: Discussionmentioning

confidence: 99%

Major aorto-pulmonary collateral arteries (MAPCAs)—Bronchial fistula presenting as tracheotomy bleed

Johnson

Tabaee

Fitz-James

et al. 2006

International Journal of Pediatric Otorhinolaryngology

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“…With confluent pulmonary arteries, significant MAPCAs do not typically develop. This is reflected by few reports of such cases [4,[9][10][11][12].…”

Section: Discussionmentioning

confidence: 99%

Major aorto-pulmonary collateral arteries (MAPCAs)—Bronchial fistula presenting as tracheotomy bleed

Johnson

Tabaee

Fitz-James

et al. 2006

International Journal of Pediatric Otorhinolaryngology

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“…To our knowledge, however, there is but a single case reported of supply through collateral arteries in association with deletion of 22q11.2 when pulmonary atresia is found in the setting of an intact ventricular septum. 4 We describe here a child with pulmonary atresia and 22q11.2 deletion syndrome with confluent branch pulmonary arteries, emphasising the significance of considering the possible association of 22q11.2 deletion syndrome in patients with pulmonary atresia with intact ventricular septum.…”

Section: P Ulmonary Atresia With Intact Ventricularmentioning

confidence: 88%

“…In a review of reported cardiovascular anomalies in chromosome 22q11.2 deletion syndrome, however, 9 pulmonary atresia in the setting of an intact ventricular septum had not been encountered. Indeed, our review of the English literature yielded but a solitary case report 4 describing 22q11.2 deletion in a patient with pulmonary atresia in the setting of intact ventricular septum.…”

Section: Discussionmentioning

confidence: 99%

Chromosome 22q11 deletion in a patient with pulmonary atresia, intact ventricular septum, and confluent branch pulmonary arteries

et al. 2017

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In this study, we report a patient with pulmonary atresia with intact ventricular septum (PA/IVS), confluent pulmonary arteries supplied by an arterial duct, and chromosome 22q11.2 microdeletion. The 22q11.2 deletion syndrome has been associated with anomalies of the outflow tracts, such as tetralogy of Fallot with either pulmonary stenosis or atresia, but we are aware of a solitary case described with pulmonary atresia when the ventricular septum is intact. The presence of genetic malformations can have long-term co-morbidities. By describing our patient, we aim to create awareness of this rare association.

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“…A recent study analyzing the frequency of different types of CHD in consanguineous marriages did not find an association of consanguinity with pulmonary atresia [Khalid et al, 2006]. In further support of a genetic basis, however, four previous single case reports have documented different chromosomal abnormalities in patients with PA-IVS, including trisomy 18 [Patel et al, 1999], 46,XX,t(6;8)(p21.2;q11.2) [Frober et al, 2001], mos47,XX,þi(5p)/46,XX [Paulick et al, 2004] and 46,XY.ish del(22)(q11.2) [Li et al, 2003]. PA-IVS has also been found with an increased frequency in patients with homozygous C677T methylenetetrahydrofolate reductase mutations [Lee et al, 2005], which suggests a genetic basis at least in some cases.…”

mentioning

confidence: 95%

Pulmonary atresia with intact ventricular septum (PA‐IVS) in monozygotic twins

Stefano

Xiang

et al. 2008

American J of Med Genetics Pt A

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E. 2008. Pulmonary atresia with intact ventricular septum (PA-IVS) in monozygotic twins. Am J Med Genet Part A 146A:525-528. To the Editor:Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare congenital heart defect (CHD) of unknown etiology, characterized by an atretic pulmonary valve with the right ventricle varying in size and morphology among different affected individuals. We report on monozygotic (monochorionic diamnionic) twin sisters with PA-IVS who died soon after birth. The patients were prematurely born at 27 weeks by caesarean to a 24-year-old gravida 1, para 0 Hispanic mother. The pregnancy course was previously uneventful, and the mother denied any exposures during pregnancy. Both parents were healthy, nonconsanguineous, with no known family history of CHD in a three-generation pedigree. The Apgar scores were 5 and 7 (Twin A), and 4 and 6 (Twin B), at 1 and 5 min, respectively. Birth weight was 1,050 g (60th centile, Twin A) and 910 grams (40th centile, Twin B), crown-heel length was 35 cm for both twins, and occipital-frontal circumferences were 24.8 cm (Twin A) and 25 cm (Twin B). Soon after birth, Twin A developed increasing respiratory rate requiring mechanical ventilation, and a systolic ejection murmur at the left upper sternal border was noted accompanied by poor oxygen saturations. Chest X-ray revealed hazy, granular lung fields consistent with hyaline membrane disease as well as a cardiac silhouette occupying nearly 70% of the thoracic diameter. An echocardiogram revealed an annular-type pulmonary valve atresia, and aortic stenosis with a bicuspid aortic valve. The left ventricle appeared normal in size and function. In spite of therapy, the patient developed respiratory failure and died at the age of 3 days. Twin B had a similar clinical course and the echocardiogram also showed pulmonary valve atresia (without aortic atresia), suprasystemic right ventricular systolic pressures and moderate tricuspid regurgitation. On day 3 of life, the echocardiogram showed poor cardiac function with left ventricular ejection fraction of 45%. Grade IV germinal matrix hemorrhage was detected by ultrasound. Comfort care was provided, and she died on day 7 of life. Unrestricted postmortem examinations, following perinatal autopsy protocols were performed in both patients.The cardiac findings present in both twins were virtually identical, consistent with the diagnosis of PA-IVS, and characterized by cardiomegaly Twin A: 16.5 g; Twin B: 15.2 g), marked right atrial dilatation, marked right ventricular myocardial hypertrophy (8-10 mm in thickness) and a small right ventricular chamber measuring approximately 9 mm from the atrioventricular annulus to the apical aspect of the chamber. In both cases, the tricuspid valves were dysplastic with two identifiable thick leaflets, attached to the right ventricular endocardium through markedly short and thickened chorda tendineae and papillary muscles. The pulmonary valve was completely atretic in both patients, with three fused valves leaving no identifi...

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Pulmonary Atresia with Intact Ventricular Septum and Major Aortopulmonary Collaterals: Association with Deletion 22q11.2

Abstract: We describe the first association of pulmonary atresia, intact ventricular septum, and absent central pulmonary arteries with deletion 22q11.2. The pulmonary blood flow was derived from major aortopulmonary collaterals. The role of the deletion in pulmonary arborization is discussed.

Cited by 7 publications

References 8 publications

Major aorto-pulmonary collateral arteries (MAPCAs)—Bronchial fistula presenting as tracheotomy bleed

Major aorto-pulmonary collateral arteries (MAPCAs)—Bronchial fistula presenting as tracheotomy bleed

Chromosome 22q11 deletion in a patient with pulmonary atresia, intact ventricular septum, and confluent branch pulmonary arteries

Pulmonary atresia with intact ventricular septum (PA‐IVS) in monozygotic twins

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