Pulmonary Atresia with Hypoplastic Right Ventricle

Fröber, Rosemarie; Kohoutek, T.; Kähler, Ch.; Beensen, V.; Hauschild, R; Schulze, E.; Linss, W

doi:10.1159/000053927

Cited by 4 publications

(1 citation statement)

References 16 publications

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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.…”

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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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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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Current Awareness

2002

Prenatal Diagnosis

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In order to keep subscribers up‐to‐date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, Reviews & Symposia; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre‐implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted

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