Absent pulmonary valve syndrome: case series

Year 2015, Volume: 46 Issue: 1, 19 - 21, 21.01.2015

Oya Demirci Taner Yavuz Emre Erdoğdu Resul Arısoy Pınar Kumru Oya Pekin Bülent Tandoğan

https://doi.org/10.16948/zktb.19451

Abstract

Introduction: Absent pulmonary valve syndrome (APVS) is a variant of Tetralogy of Fallot (TOF). It shares the features of the classical form of TOF with the addition of incompetent or absent pulmonary valve. It is associated with severe dilatation of the main and branch pulmonary artreies because of concurrent severe pulmonary stenosis and regurtation.

Cases: Four cases with a fetal diagnosis of APVS between 2013 and 2014 were analyzed.

Conclusion: APVS is easy to recognise with typical ultrasound images although it is a rare cardiac abnormality. It is associated with significant perinatal mortality and morbidity because of the bronchomalacia secondary to bronchial compression of the dilated pulmonary artery.

Keywords

absent pulmonary valve syndrome, tetralogy of Fallot, chromosome abnormalitly, 22q 11 microdeletion, prenatal diagnosis, fetal outcomes

Pulmoner kapak yokluğu sendromu: olgu serisi

Abstract

Giriş: Pulmoner Kapak Yokluğu Sendromu (APVS), Fallot tetralojisinin özelliklerini içeren, pulmoner kapağın fonksiyonel yokluğunun eşlik ettiği, pulmoner çıkış yolunda darlık ve yetersizlik sonucu ana pulmoner arter ve dallarında anevrizmal dilatasyonun izlendiği bir kardiyak anomalidir.

Olgular: 2013- 2014 yılları arasında prenatal dönemde APVS tanısı konulan dört vakanın incelenmesi yapılmıştır.

Sonuç: APVS’u nadir görülen bir kardiyak anomali olmasına rağmen tipik ultrason bulguları ile tanısı kolaydır. Dilate pulmoner arter ve dallarının akciğer dokusuna basısı sonucu gelişen bronkomalazi nedeniyle belirgin perinatal mortalite ve morbidite sahiptir.

Keywords

pulmoner kapak yokluğu sendromu, Fallot tetralojisi, kromozomal anomali, 22q11 mikrodelesyon, prenatal tanı, fetal sonuçlar

References

• Paladini D, Volpe P. Ultrasound of Congenital Fetal Anomalies, Differential Diagnosis and Prognostic Indicators. Second Edition. Page 201-3.
• Volpe P, Paladini D, Marasini M, Buonadonna AL, Russo MG, Caruso G, Marzullo A, Arciprete P, Martinelli P, Gentile M. Characteristics, associations and outcome of absent pulmonary valve syndrome in the fetus. Ultrasound Obstet Gynecol. 2004;24:623-8.
• Wertaschnigg D, Jaeggi M, Chitayat D, Shannon P, Ryan G, Thompson M, Yoo SJ, Jaeggi E. Prenatal diagnosis and outcome of absent pulmonary valve syndrome: contemporary single-center experience and review of the literature. Ultrasound Obstet Gynecol. 2013;41:162-7.
• Mivelaz Y, Lim KI, Templeton C, Campbell AI, Potts JE, Sandor GG. Population-based review of tetralogy of Fallot with absent pulmonary valve: is prenatal diagnosis really associated with a poor prognosis? Ultrasound Obstet Gynecol. 2012;40:536-41.
• Güven F, Kavas E, Kavas R, Gökyayla N, Erbil N, Say A. Pulmoner kapak yokluğu ile birlikte olan fallot tetralojili bir olgu. Zeynep Kamil Tıp Bülteni 2002;33:52-3
• Saylam GS, Sarıoğlu A, Beşikçi R, Batmaz G, Kınoğlu B, Sarıoğlu T. Pulmoner Kapak Yokluğu Sendromu: 15 Olgunun Analizi. Türk Kardiyol Dern Arş 1997;25:93-100.
• Momma K. Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome. Am J Cardiol. 2010; 105:1617-24.
• Grewal DS, Chamoli SC, Saxena S. Absent pulmonary valve syndrome - Antenatal diagnosis. Med J Armed Forces India. 2014; 70:198-200.
• Galindo A, Gutiérrez-Larraya F, Martínez JM, Del Rio M, Grañeras A, Velasco JM, Puerto B, Gratacos E. Prenatal diagnosis and outcome for fetuses with congenital absence of the pulmonary valve. Ultrasound Obstet Gynecol. 2006;28:32-9.
• Razavi RS, Sharland GK, Simpson JM. Prenatal diagnosis by echocardiogram and outcome of absent pulmonary valve syndrome. Am J Cardiol. 2003; 91:429-32.