Prenatal diagnosis and outcome for fetuses with congenital absence of the pulmonary valve

Galindo, Alberto; Gutiérrez-Larraya, Federico; Martínez, J.; Río, M. del; Grañeras, A.; Velasco, Josè M.; Puerto, B.; Gratacós, Eduard

doi:10.1002/uog.2807

Cited by 60 publications

(84 citation statements)

References 27 publications

(28 reference statements)

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“…Absent pulmonary valve syndrome (APVS) has been reported in 3 to 6% of all cases of tetralogy of Fallot (TOF), and the incidence is even higher in the prenatal population due to high rate of fetal demise 1. Although TOF is the most commonly associated congenital heart defect (CHD) in APVS, other defects have been described 2,3.…”

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confidence: 99%

Absent Pulmonary Valve Syndrome with Left Hemitruncus

et al. 2012

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Absent pulmonary valve syndrome (APVS) is a rare congenital heart defect, usually associated with tetralogy of Fallot (TOF), although other associations have been described. A pregnant woman was referred to fetal echocardiography clinic from the Maternal Fetal Medicine department due to abnormal findings on routine antenatal ultrasound, showing a pulsatile cystic mass above the left atrium and a suspected TOF. A fetal echocardiogram confirmed the presence of TOF/APVS. The pulsatile cystic mass was the aneurysmally dilated main pulmonary artery. The exact origin of the left pulmonary artery (LPA) was not clearly established prenatally. A postnatal echocardiogram of the neonate showed an abnormal origin of the LPA from the ascending aorta (hemitruncus). The neonate subsequently underwent surgical repair with a good outcome. We present a novel case of a TOF/APVS associated with an abnormal origin of the LPA from the ascending aorta.

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confidence: 99%

Absent Pulmonary Valve Syndrome with Left Hemitruncus

et al. 2012

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“…It is characterized by the absence or extremely vestigial development of the pulmonary valve leaflets in association with varying degrees of hypoplasia of the pulmonary annulus [1] . The absence of the ductus arteriosus is frequently described in association with TOF and APVS in the second trimester whereas a patent ductus arteriosus is predominant in early gestation and is associated with massive volume overload of both ventricles resulting in hydrops and early fetal death [2] .…”

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confidence: 99%

Ebstein’s Anomaly of the Tricuspid Valve in Association with Tetralogy of Fallot and Absent Pulmonary Valve Syndrome

Abramian¹,

Gembruch²,

Geipel³

et al. 2011

Fetal Diagn Ther

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Ebstein’s anomaly and absent pulmonary valve syndrome belong to the rarest congenital heart defects. Their association has never been reported so far. We present the unusual case of a fetus at 23 weeks of gestation with Ebstein’s anomaly, tetralogy of Fallot, absent pulmonary valve and agenesis of the arterial duct. The main diagnostic features were apical displacement of the septal leaflet of the tricuspid valve with an offset from the mitral valve of 8 mm, a pronounced atrialization of the right ventricle, a large malalignment ventricular septal defect with overriding aorta in combination with absence of the pulmonary valve leaflets, to and fro flow pattern over the stenotic pulmonary valve annulus, turbulent flow in the pulmonary trunk, massive dilatation of the pulmonary trunk plus the pulmonary arteries and a right aortic arch with retroesophageal course of an aberrant left subclavian artery. The arterial duct and the thymus were absent. The remaining fetal anatomy was unremarkable. Amniocentesis revealed a normal male karyotype; 22q11 microdeletion was ruled out. After being counseled on the unfavorable prognosis, the parents opted for termination of pregnancy. The prenatal cardiac findings were confirmed at autopsy; however, a severely hypoplastic thymus was found instead of the suspected aplasia.

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“…In the early '80s and '90s as well as in the early 2000s, it was believed that the later surgery in the infancy, the higher the odds of a good postoperative prognosis in patients with APVS 11,12 . Due to the fact that this is a very rare defect, the literature available so far has a small database of postoperative results, and in the last decade there were only six reports comprehensive publications based on the analysis of a dozen cases (12 -52) [13][14][15][16][17][18] . The authors analyzed the width of the lung branch, the presence of DA (ductus arteriosus), the association of defects with chromosomal abrasions (usually di George syndrome), a type of modification of cardiac surgery.…”

confidence: 99%

Absent Pulmonary Valve Syndrome – Special Prenatal Care and Early Surgery in Obstetric/Cardiac Center - A New Hope for Postnatal Survivors?

Zych-Krekora

Krekora

Kopala

et al. 2017

Prenatal Cardiology

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Introduction: APVS (Absent Pulmonary Valve Syndrome) is a rare congenital heart disease. Its incidence according to The Polish National Registry of Fetal Cardiac Pathology in years 2004 - 2016 was 0.6%.This disease is caused by the absence or the residual pulmonary artery valve resulting in significant dilation of the pulmonary trunk and its branches. In utero deaths are reported. After birth the major problem is respiratory failure and high preoperative and postoperative mortality. Material and methods: In 1995 to 2016, 11 fetuses with APVS were diagnosed in our unit, at the average 27,5 weeks of gestation (min. 18.5- max 37.1 weeks of gestation). Two groups were analysed in this series of cases: “Old one” by 2011 (n = 6) and “New one” since 2011 (n = 5) and perinatal care as well as survival were compared. We analysed the fetal echo results, perinatal care including transplacental digoxin and steroids treatment in NEW group, the longevity of the pregnancy and neonatal/infants outcome. Results: In Old group the average day of cardiac surgery was day 91st after birth (max. 161) and the survival was 50% . In the New group the average surgery day was 41st day and the postoperative survival was 60%, however there was no statistical significance ( p > 0,05). Conclusions: There is no single parameter from prenatal life in foetuses with APVS which may allow to predict the positive outcome meaning neonatal survival. However optimal perinatal care (early detection of defect, transplacental digoxin at least 3-4 weeks, steroids, no preterm delivery, on-time delivery, postnatal care in tertiary center) and relatively early cardiac surgery may have combined impact on the improvement of survival after prenatal diagnosis of APVS, however more data are necessary to prove this hypothesis.

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Prenatal diagnosis and outcome for fetuses with congenital absence of the pulmonary valve

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Cited by 60 publications

References 27 publications

Absent Pulmonary Valve Syndrome with Left Hemitruncus

Absent Pulmonary Valve Syndrome with Left Hemitruncus

Ebstein’s Anomaly of the Tricuspid Valve in Association with Tetralogy of Fallot and Absent Pulmonary Valve Syndrome

Absent Pulmonary Valve Syndrome – Special Prenatal Care and Early Surgery in Obstetric/Cardiac Center - A New Hope for Postnatal Survivors?

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