Absent Pulmonary Valve Research Articles

Prenatal diagnosis of tetralogy of Fallot with an absent pulmonary valve: is this malformation still associated with a poor prognosis? A 5-year single-center experience

Objective: This study sought to assess the prenatal features and clinical outcomes of cases with a fetal diagnosis of tetralogy of Fallot (TOF) with an absent pulmonary valve (APV) at our maternal-fetal medicine unit. Methods: Twelve cases of TOF and APV prenatally diagnosed at Kanuni Sultan Süleyman Training and Research Hospital between 2015 and 2020 were retrospectively reviewed. Prenatal characteristics, additional cardiac and extracardiac anomalies, and postnatal outcomes of the cases were examined. Results: The median gestational age at diagnosis was 22 weeks (range: 18–24 weeks). The absence of ductus arteriosus was found in all cases (100%). Karyotype analysis was performed in 5 cases. A chromosomal abnormality was detected in 3 of these cases (60%); 2 cases with 22q11 microdeletion, and 1 case with trisomy 21. Parents opted for termination of pregnancy in two of these cases; 1 case with 22q11 microdeletion, and 1 case with trisomy 21. Two patients experienced spontaneous intrauterine fetal demise. Finally, 8 live-born fetuses underwent total correction surgery during the postnatal period. Four (33.3%) out of 12 cases survived at the end of the 4-years follow-up period. Conclusion: While TOF with APV cases were predominantly associated with poor prognoses in the past, more promising results have been obtained in recent years in parallel with the developments in surgery and postnatal care. For this reason, we think that the prognosis will be even better in the coming years as the developments in surgical technique and care continue.

Serial Magnetic Resonance Imaging for Aortic Dilation in Tetralogy of Fallot With Pulmonary Stenosis

Aortic dilation occurs in patients with repaired tetralogy of Fallot (TOF), but the rate of growth is incompletely characterized. The aim of this study was to assess the rates of growth of the aortic root and ascending aorta in a cohort of pediatric and adult patients with sequential magnetic resonance angiography Magnetic Resonance Imaging (MRI) data. Using serial MRI data from pediatric and adult patients with repaired TOF, we performed a retrospective analysis of the rates of growth and associations with growth of the aortic root and ascending aorta. Patients with pulmonary atresia or absent pulmonary valve were excluded. Between years 2005 to 2021, a total of 99 patients were enrolled. A follow-up MRI was performed an average of 5.9 ± 3.7years from the initial study. For the cohort aged ≥16 years, the mean rate of change in diameter was 0.2 ± 0.5mm/year at the ascending aorta and 0.2 ± 0.6mm/year at the sinus of Valsalva. For the entire cohort, the mean change in cross-sectional area indexed to height at the ascending aorta was 7 ± 12mm2/m/year and at the sinus of Valsalva was 10 ± 16mm2/m/year. Younger age was associated with higher rates of growth of the sinus of Valsalva while the use of β blockers or angiotensin-converting enzyme inhibitors was associated with a slower rate of growth. There were no cases of aortic dissection in this cohort. We conclude that serial MRI demonstrates a slow rate of growth of the aorta in the TOF.

Circular shunt in fetal absent pulmonary valve with tricuspid stenosis.

Pediatrics InternationalAccepted Articles e15480 CLINICAL NOTE Circular shunt in fetal absent pulmonary valve with tricuspid stenosis Tomiko Toyokawa, Tomiko Toyokawa Department of Pediatric Cardiology, Osaka Women's and Children's Hospital, Izumi, Osaka, Japan Department of Pediatrics, Yao Municipal Hospital, Yao, Osaka, JapanSearch for more papers by this authorNoboru Inamura, Corresponding Author Noboru Inamura ki88mi@gmail.com orcid.org/0000-0002-6270-1158 Department of Pediatric Cardiology, Osaka Women's and Children's Hospital, Izumi, Osaka, Japan Department of Pediatrics, Kindai University Faculty of Medicine, Osaka-Sayama, Osaka, Japan Correspondence Noboru Inamura, Department of Pediatrics, Kindai University, Faculty of Medicine; 377-2 Ohno-Higashi, Osaka-Sayama, Osaka 589-8511, Japan, Phone: +81-72-366-0221; Fax: +81-72-368-1566. Email: ki88mi@gmail.comSearch for more papers by this authorYukiko Kawazu, Yukiko Kawazu Department of Pediatric Cardiology, Osaka Women's and Children's Hospital, Izumi, Osaka, Japan Department of Pediatrics, Fukuyama City Hospital, Fukuyama, Hiroshima, JapanSearch for more papers by this authorFutoshi Kayatani, Futoshi Kayatani Department of Pediatric Cardiology, Osaka Women's and Children's Hospital, Izumi, Osaka, JapanSearch for more papers by this author Tomiko Toyokawa, Tomiko Toyokawa Department of Pediatric Cardiology, Osaka Women's and Children's Hospital, Izumi, Osaka, Japan Department of Pediatrics, Yao Municipal Hospital, Yao, Osaka, JapanSearch for more papers by this authorNoboru Inamura, Corresponding Author Noboru Inamura ki88mi@gmail.com orcid.org/0000-0002-6270-1158 Department of Pediatric Cardiology, Osaka Women's and Children's Hospital, Izumi, Osaka, Japan Department of Pediatrics, Kindai University Faculty of Medicine, Osaka-Sayama, Osaka, Japan Correspondence Noboru Inamura, Department of Pediatrics, Kindai University, Faculty of Medicine; 377-2 Ohno-Higashi, Osaka-Sayama, Osaka 589-8511, Japan, Phone: +81-72-366-0221; Fax: +81-72-368-1566. Email: ki88mi@gmail.comSearch for more papers by this authorYukiko Kawazu, Yukiko Kawazu Department of Pediatric Cardiology, Osaka Women's and Children's Hospital, Izumi, Osaka, Japan Department of Pediatrics, Fukuyama City Hospital, Fukuyama, Hiroshima, JapanSearch for more papers by this authorFutoshi Kayatani, Futoshi Kayatani Department of Pediatric Cardiology, Osaka Women's and Children's Hospital, Izumi, Osaka, JapanSearch for more papers by this author First published: 19 January 2023 https://doi.org/10.1111/ped.15480 This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi:10.1111/ped.15480. AboutPDF ToolsExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Accepted ArticlesAccepted, unedited articles published online and citable. The final edited and typeset version of record will appear in the future.e15480 RelatedInformation

Agénésie de la valve pulmonaire avec communication interventriculaire découverte à l'âge adulte suite à une endocardite infectieuse : à propos d'un cas

Absent pulmonary valve syndrome is a rare congenital heart disease. Associated with ventricular septal defect, it is considered a rare variant of Tetralogy of Fallot “Tetralogy of Fallot with absent pulmonary valve syndrome”. It is characterized by its association with aneurysmal pulmonary arteries responsible for airways compression. Survival to adulthood of this unrepaired congenital heart disease is very rare, and the case of the patient we report in this article is added to the rare cases reported in the literature. Clinical tolerance depends on the degree of severity of the malformation and in particular on the importance of the aneurysmal dilation of the pulmonary arteries, thus determining the age of the diagnosis, the severity of symptoms, and the mode of evolution. Diagnosis of Tetralogy of Fallot with absent pulmonary valve syndrome must be established by transthoracic echography. Other investigations can be of capital contribution, such as thoracic computed tomography angiography and cardiac catheterization. The treatment is surgical and includes closure of the ventricular septal defect, relieve right ventricular outflow tract obstruction, and surgical reduction of the aneurysmal pulmonary arteries.

Long-term outcome of repaired tetralogy of Fallot: Survival, tachyarrhythmia, and impact of pulmonary valve replacement.

Pulmonary valve replacement (PVR) is recommended for severe pulmonary regurgitation in repaired tetralogy of Fallot (rTOF). The purpose of this study was to investigate the event rate and effectiveness of PVR. A retrospective study of tetralogy of Fallot patients who survived total repair from 1970 to 2020 was conducted. We identified 1744 rTOF patients; 86.6% with classic rTOF, 11.5% with pulmonary atresia, 0.8% with endocardial cushion defect, and 1.1% with absent pulmonary valve. Annual risks of tachyarrhythmia/sudden cardiac arrest (SCA) increased to 0.295% and 1.338% in patients aged 10-30 and 30-60 years, respectively, without sex predominance. PVR (223 surgical and 39 percutaneous) event rate was 34.7% ± 2.1% by 30 years after repair (annual risk: 1.57% between 10 and 30 years after repair). The second PVR rate was 9.9% ± 4.1% by 20 years after the first PVR. Tachyarrhythmia/SCA risk was higher in PVR patients than in No PVR patients and was reduced in PVR patients without tachyarrhythmia/SCA before PVR. However, survival in patients with ventricular tachyarrhythmia/SCA still was better after PVR. At PVR, 13% of patients had tachyarrhythmia/SCA, which was the major predictor of events after PVR. Before PVR, although the ventricular tachyarrhythmia/SCA risks included QRS duration >160 ms and New York Heart Association functional class III or IV, supraventricular tachyarrhythmia was associated with PVR age ≥28 years and N-terminal pro-brain natriuretic peptide >450 pg/mL. Tachyarrhythmia/SCA occurrence and the need for PVR increased with age during young adulthood. PVR reduced subsequent arrhythmias only in those patients without arrhythmias before PVR.

Unilateral absence of pulmonary artery with absent pulmonary valve in tetralogy of Fallot.

The incidence of absent pulmonary valve (APV) in tetralogy of Fallot is 2.4 to 6.3%. About 1-3% of the patients with tetralogy of Fallot will have unilateral absence of pulmonary artery (UAPA). However, coexistence of APV with tetralogy of Fallot (TOF) and UAPA is extremely rare. This rare subset can present in two forms. In one group, the main pulmonary artery continues as either left or right pulmonary artery (UAPA) and there is true absence of contralateral pulmonary artery. The second group is termed as unilateral anomalous origin of pulmonary artery (UAOPA), in which the contralateral lung is supplied either by patent ductus arteriosus or a collateral from the aorta. There are a limited number of these cases in the literature. We present a rare case of TOF with APV and UAPA managed using a different surgical technique. Also, we have done contemporary literature review.

Prenatal Diagnosis, Associations and Outcome for Fetuses with Congenital Absence of the Pulmonary Valve Syndrome.

Background:The aim of this study is to review the spectrum of the prenatally detected absent pulmonary valve syndrome and its outcome after diagnosis.Methods:Clinical data and echocardiographic findings of 37 cases with a fetal diagnosis of absent pulmonary valve syndrome between 2008 and 2020 were analyzed in this retrospective multicenter study.Results:Median gestational age at diagnosis was 25 weeks. Three subtypes of absent pulmonary valve syndrome were observed: (1) with tetralogy of Fallot (n = 30; 81.0%); (2) absent pulmonary valve syndrome with intact ventricular septum (n = 5; 13.5%); (3) with complete atrioventricular septal defect (n = 2; 5.4%). In contrast to 7/25 fetuses (28%) with tetralogy of Fallot-absent pulmonary valve syndrome who had a patent ductus arteriosus, all 5 fetuses with absent pulmonary valve syndrome-intact ventricular septum had a patent ductus arteriosus (P < .001). No significant difference was found between the z-scores of pulmonary artery branches in fetuses with or without patent ductus arteriosus (P > .05). The analysis did not reveal any correlation between gestational week and z-scores of pulmonary artery, pulmonary artery branches (right pulmonary artery, left pulmonary artery), and ratio of aorta/pulmonary artery ratio. The echocardiographic measurements of survivors did not differ significantly from non-survivors (P > .05). Extracardiac anomalies were observed in 8/37 fetuses (21.6%). The incidence of extracardiac anomaly was significantly higher in cases of tetralogy of Fallot-absent pulmonary valve syndrome (P < .05). Overall, 9 fetuses (24%) had genetic anomalies. All 6 fetuses (20%) with 22q11.2 microdeletion were within the tetralogy of Fallot-absent pulmonary valve syndrome group. Overall survival after initial diagnosis in the total cases was 36.6% (11/30), with 9 of 30 (30%) tetralogy of Fallot-absent pulmonary valve syndrome cases and 2 of 5 (40%) absent pulmonary valve syndrome-intact ventricular septum cases.Conclusions:In this largest series of absent pulmonary valve syndrome, extracardiac, and chromosomal anomalies were found to be a common occurrence. The risk of 22q11.2 microdeletion was higher in tetralogy of Fallot cases at 40%. The sizes of the pulmonary artery and its branches and the aorta had no correlation of high mortality antenatally or after birth, which were 63.4% and 47.7%, respectively.

Tetralogy of Fallot in the fetus - from diagnosis to delivery. 18-year experience of a tertiary Fetal Cardiology Center.

Tetralogy of Fallot (TOF) is a common congenital heart disease but very heterogeneous in terms of detailed cardiac anatomy, associated malformations, and genetic anomalies, especially when assessed prenatally. We aimed to analyze the clinical spectrum of TOF in the prenatal period, including detailed cardiac morphology, coexisting anomalies, and their impact on short-term neonatal outcome. We also assessed changing trends in the prenatal diagnostic workup of TOF. A retrospective cohort study including fetuses diagnosed with TOF between 2002 and 2019 was conducted in a tertiary Fetal Cardiology Center. Medical records and echocardiographic examinations were reviewed to collect demographic, sonographic, and genetic data. Among 326 TOF fetuses, 237 (73%) had pulmonary stenosis (TOF-PS), 72 (22%) pulmonary atresia (TOF-PA), and 17 (5%) absent pulmonary valve (TOF-APV). The yearly number of diagnoses increased during the study period, with decreasing fetal age at the time of diagnosis. Extracardiac malformations were found in 172 (53%) fetuses, cardiovascular malformations in 159 (49%), and genetic anomalies in 99 (39% of the tested group). Hypoplastic thymus, right aortic arch, and polyhydramnios were sonographic markers of microdeletion 22q11. Left-to-right ductal flow was predictive of postnatal ductal dependency. The perinatal outcome was dependent on the presence of associated anomalies and disease subtype, with TOF-APV having the worst prognosis. Extracardiac and genetic anomalies are common in fetuses with TOF, and, together with disease subtype and ductal flow assessment, they impact the perinatal management and outcomes. Genetic testing with array comparative genomic hybridization should be offered in all cases.

Tetralogy of Fallot with absent pulmonary valve in an adult.

Absent pulmonary valve syndrome (APVS) is seen in around 3 to 6% of tetralogy of Fallot (TOF) patients. They present in the neonatal or infantile period with respiratory compromise, cardiac failure, or cyanosis. They rarely survive into adulthood with only few reports published in literature so far. In this report, we present an adult patient with TOF and APVS, who underwent a successful repair with prosthetic valve implantation.

50 Years Ago in TheJournalofPediatrics: Rare Conditions and Surgical Journeys

50 Years Ago in TheJournalofPediatrics: Rare Conditions and Surgical Journeys

Outcomes following surgical repair of absent pulmonary valve syndrome: 30 years of experience from a Swedish tertiary referral centre.

Surgical approach with reduction pulmonary artery plasty and valved conduit in patients with respiratory compromise prior to repair is associated with excellent long-term survival at the cost of a higher reintervention rate. OBJECTIVESAbsent pulmonary valve syndrome is a rare congenital heart defect with pulmonary artery dilatation and secondary airway compression. Although preoperative respiratory support and early surgical repair with pulmonary arterioplasty are often required in patients with airway compromise, the need for extensive plasty in these patients and for plasty in general in those with no or mild respiratory issues remains debatable.METHODSWe performed a retrospective survey of patients with this diagnosis and repair from 1988 to 2018.RESULTSTwenty patients were identified. The median age and weight at repair were 0.8 (0.1–2.4) years and 7.0 (2.5–13.8) kg and included a valved conduit in 17 (85%) patients and a transannular patch in 3 patients. Five (29%) patients were ventilator-dependent prior to repair at the age of 0.3 (0.1–0.4) years. Pulmonary arterioplasty was performed in 7 patients (35%), including all 5 with ventilator dependency and 2 with respiratory symptoms due to recurrent infections. Two patients (10%) with preoperative ventilator dependency underwent extensive intrahilar arterioplasty. Preoperative ventilator dependency was associated with earlier repair and reinterventions (P < 0.05). There were 3 late deaths among cases with repair after 2000 (n = 14), none with preoperative ventilator dependency.CONCLUSIONSThe long-term outcomes of patients with this rare defect are good, comparable to those of other previous studies. Reduction pulmonary arterioplasty, which in this study was used only in patients with respiratory distress and ventilator dependency, is associated with excellent survival. Reinterventions are common in these patients.

Management of post-operative ventilator dependency in an operated case of tetralogy of Fallot with absent pulmonary valve: a team approach involving cardiac surgeon, cardiologist, intensivist, and radiologist.

Tetralogy of Fallot with absent pulmonary valve syndrome is commonly associated with trachea-bronchial anomalies, possibly due to airway compression caused by massively dilated pulmonary arteries secondary to severe pulmonary regurgitation. This airway obstruction may persist post-operatively also. We report a case of an infant who required a series of management strategies including bronchial stenting to manage his obstructive symptoms.

Tricuspid atresia with absent pulmonary valve: A rare form of single ventricle.

Tricuspid atresia with an absent pulmonary valve is a rare congenital cardiac defect. Although extensive pathological reviews have been published in the past, there are only a handful of cases that have been successfully palliated to the stage of Fontan. We hereby describe the successful management of one such case and review the surgical strategies described in the literature.

CYANOTIC HEART DISEASE: AN OVERVIEW OF TETRALOGY OF FALLOT

Tetralogy of Fallot (TOF) is the most common cyanotic heart disease with anomalies consist of: ventricular septal defect (VSD), overriding aorta, pulmonary stenosis and hypertrophic of the right ventricular. It also has various anomalies type such as TOF with absent pulmonary valve, TOF with pulmonary atresia, TOF with atrioventricular septal defect, TOF with coronary artery anomalies, etc which will be discussed in detail. Proper diagnosis is required when dealing with the TOF continue with radiological examination. Adequate history taking and correct physical examination are necessary in dealing with congenital heart defects, especially TOF case. In this overview, we also discuss about the comprehensive management, from tet spell management, palliative management of TOF that required shunt with various technique, and surgical total corrective of TOF with many approach such as transannular accompany with right ventriculotomy or transatrial with transpulmonary or beating heart surgery technique to prevent reperfusion injury complication.

A rapid and Easy Objective Evaluation of the Three Vessel View to Enhance Diagnostic Confidence in Fetal Echocardiography

AbstractThe three vessel view (3VV) is an integral component of fetal cardiac screening. The evaluation of vessel size is subjective in this view. Not infrequently, however, there can be a doubt and a need arises for objective assessment. Our aim was to clarify which ratio (AO/PA, AO/SVC, PA/SVC) can most easily judge the 3VV. We measured the diameter of the aorta (AO), pulmonary artery (PA) and superior vena cava (SVC) in 85 fetuses that had been diagnosed with a normal heart (NH) by the spatiotemporal image correlation (STIC) method and calculated the AO/PA ratio, AO/SVC ratio and PA/SVC ratio. We then calculated a similar index using an offline videotape in 15 fetuses diagnosed with coarctation of the aorta (COA), and 15 fetuses diagnosed with Tetralogy of Fallot (TOF). TOF excluded pulmonary atresia and absent pulmonary valve. All of the AO/PA ratios, AO/SVC ratios and PA/SVC ratios recognized a significant difference in the CoA, TOF and the NH groups. When we calculated the ROC curve in each CoA group and TOF group about AO/PA ratio, AO/SVC ratio, PA/SVC ratio, AO/PA ratio showed the highest sensitivity and specificity in the CoA group and the TOF group. When the cut-off value of the CoA for the NH group is AO/PA ratio &lt; 0.7, good results are obtained, sensitivity is 100% and specificity is 90.6%. When the cut-off value of the TOF from the NH group is AO/PA ratio &gt; 1.2, good results are obtained, sensitivity is 100% and specificity is 98.8%. The method to measure AO/PA ratio during heart screening can judge the 3VV objectively. When it exceeds 0.7 &lt; AO/PA ratio &lt; 1.2, it is likely to be congenital heart disease.

197 Pulmonary valve agenesis updating the genetic basis a case report and literature review

Introduction: Absent Pulmonary Valve Syndrome - APVS is a rare congenital heart disease that in its most frequent forms, is often associated with Tetralogy of Fallot - TOF, offering it an overall poor prognosis. Today’s presentation however focuses on the ultrasound findings around a non Fallot, isolated APVS, diagnosed antenatally with a different genetic heritage than what would be expected. Methods: We present the clinical case of a 31 year old primigravida without any particular health issues, who benefited of a detailed fetal echocardiography after the second trimester ultrasound performed at 20 weeks of gestation revealed the following isolated cardiac anomalies asymmetrical cardiomegaly and RVOT modified outflow; an absent pulmonary valve syndrome was brought into discussion.

Fetal echocardiographic features of absent pulmonary valve syndrome

Absent pulmonary valve syndrome represents a rare defect, characterized by rudimental pulmonary valve leaflets. The presence of a nonfunctional valve can result in right ventricle dilation (Figure 1) and reduced ventricular compliance. There is often a ventricular septal defect with aortic override, as seen in tetralogy of Fallot (Figure 2, Video 1) while ductus arteriosus is frequently absent (Figure 3). Pulmonary valve stenosis may coexist (Figure 4). The main sonographic feature is massive dilation of pulmonary branches (Figure 5, Video 2).

320 cardiac MDCT angiography in preoperative assessment of TOF and its variants: Does it worth it?

BackgroundTetralogy of Fallot is the most common cyanotic congenital heart disease encountering a large spectrum of anatomical presentations with differing surgical approaches, and long-term outcomes ranging from ventricular septal defect with limited aortic overriding and mild pulmonary obstruction to a critical form of VSD and pulmonary atresia. TOF variants include PA/VSD, TOF/CAVC, TOF/DORV and TOF with absent pulmonary valve. Also, it may be accompanied with many associated intracardiac and extracardiac anomalies that may be of value when imaging and planning the surgical procedure.ResultsOur study included 22 cases of classic TOF, 18 with PA/VSD (12 were of type A, 5 were of type B and 1 was of type C), 3 with TOF/CAVC and 7 TOF/DORV. Sub-valvular RVOTO was detected in 94% of patients. A statistically significant difference was depicted between Echocardiography and MDCT in detecting supravalvular RVOTO, however no statistically significant difference was found in sub-valvular and valvular RVOTO detection. MDCT could efficiently characterize pulmonary arterial tree with statistically significant difference between both Echocardiography and MDCT in assessment of main, right and left pulmonary arteries with P value = 0.036,0.014 and 0.023 respectively. With calculation of Mc-Goon ratio in all patients, it was favorable (> 1.2) in 33 patients (66%). MDCT entailed 19 patients with PDA versus 15 depicted by Echocardiography and 25 MAPCAs per 11patients compared 8 MAPCAs per 7 patients detected by Echocardiography. Right sided aortic arch was found in 10 patients and 24 patients showed abnormal branching pattern. Coronary artery abnormalities were identified in eight patients. MDCT showed 100% sensitivity and 100% specificity in depicting aortic, coronary and other associated extracardiac vascular anomalies.ConclusionMDCT offers comprehensive anatomical assessment of TOF, and its variants providing superiority over echocardiography and comparable results to cardiac catherization with 100% sensitivity and specificity in evaluation of associated extracardiac vascular anomalies as well as pulmonary arteries characterization. It is worth using MDCT routinely in combination with echocardiography for the preoperative assessment of TOF and its variants representing a less invasive option than conventional catherization with lower radiation exposure.

Management and outcome of prenatal absent pulmonary valve syndrome

ObjectiveThe purpose of this study was to explore the outcome in fetuses with prenatal diagnosis of absent pulmonary valve syndrome (APVS) on ultrasound imaging.MethodsA manual web scraping technique was utilized, where MEDLINE and EMBASE were searched along the combination with other relevant medical subject headings such as “absent pulmonary valve syndrome”, “prenatal APVS” and “APVS/outcome”. The observed outcomes encompassed the rate of chromosomal abnormalities, associations and malformations linked to APVS and fetuses with APVS. A quality assessment of the included studies was also performed. We used meta-analyses of proportions to combine data and fixed or random-effects models according to the heterogeneity of the results.ResultsSeven studies including 199 fetuses with APVS were included in the analysis. The median gestational age at referral to the tertiary center was 24.8 weeks. An association to tetralogy of Fallot (TOF) could be seen in 84.4% of all cases. In total 140 out of 199 cases underwent invasive testing, with a total number of 55 abnormal karyotypes [39.3% (95% CI 31.1–47.9%)]. 35.2% of the patients opted for termination of pregnancy (95% CI 28.5–42.3%).ConclusionThe analysis underlines the distribution of fetuses with APVS, with 84.4% of cases presenting with TOF/APVS and only 12.6% having APVS/intact ventricular septum (IVS). Larger and more prospective study analyses is now needed, especially focusing on long-term follow-up periods of fetuses and children with APVS. Particularly as the postnatal course shows great variety depending on prenatal diagnosis.

Diagnostic imaging for absent pulmonary valve syndrome: an update with an emphasis on cardiothoracic computed tomography.

Absent pulmonary valve syndrome is a rare congenital heart disease characterized by partial or complete absence of pulmonary valve cusps which commonly presents with respiratory difficulty during infancy. Because central airway compression by dilated central pulmonary arteries is a key pathology of this syndrome responsible for clinical presentation, severity, and outcome, cardiothoracic computed tomography (CT) is currently regarded as the imaging modality of choice before and after treatment. In addition, tracheobronchomalacia frequently responsible for persistent respiratory problems can be accurately evaluated with conventional two-dimensional cine CT or four-dimensional CT. In this pictorial review, various diagnostic imaging methods used to evaluate absent pulmonary valve syndrome are comprehensively illustrated with an emphasis on a recently spotlighted role of cardiothoracic CT.