Absent Pulmonary Valve Research Articles

Prenatal diagnosis and postnatal course in four fetuses with very rare pulmonary artery anomalies.

Pulmonary artery (PA) anomalies are very rare congenital cardiac malformations, a significant number of which remain unrecognized or misdiagnosed during the prenatal period. We report the prenatal diagnosis and outcome of pregnancy with fetal PA anomalies and discuss the related management issues. We identified four cases of prenatally diagnosed rare PA anomalies that were seen and confirmed in the newborn period by echocardiography and computed tomographic angiography at our center from 2018 to 2020. The course of the pregnancy, perinatal outcome, and the postnatal course in each case were analyzed. Three fetuses were born by repeat cesarean section approximately at 39 weeks of gestation and the other woman delivered vaginally. Of the abnormal origin of the left PA (LPA) in two patients, the first had right PA abnormalities derivating from the ascending aorta, and in the second, the LPA originated from the right PA. Two patients had agenesis of ductus arteriosus (DA), the first was accompanied with tetralogy of Fallot (TOF) and right aortic arch with a normal pulmonary valve, the second patient presented with an Absent Pulmonary Valve syndrome with TOF. Prenatal ultrasonography can be used to correctly diagnose the abnormal origin of the PA branches. Branching of the PA, presence of DA, location of the aortic, and ductal arch by the trachea should be routinely screened in the prenatal anatomic examination and the three-vessel and trachea view can determine the primary clues of PA malformations.

Absence of arterial duct in fetus: an autopsy analysis

Objective: To analyze the absence of congenital arterial duct in fetus and to improve the diagnostic accuracy. Methods: Four hundred cases of congenital heart disease diagnosed by echocardiography during pregnancy were examined the fetal cardiovascular malformation and visceral malformation, and the absence of arterial duct was analyzed. Results: There were 24(6%)cases of absence of arterial duct, including 19 cases of left aortic arch and five cases of right aortic arch. There were 21 cases with main pulmonary arteries and 3 cases without main pulmonary arteries and branches. There were 15 cases of pulmonary artery stenosis with absence of arterial duct and the major cardiovascular malformations included six cases of single ventricle, six cases of atrial septal defect, four cases of single atrium, four cases of right atrium isomerism, four cases of double outlet right ventricle, four cases of anomalous pulmonary venous drainage, three cases of tetralogy of Fallot, and three cases of persistent left superior vena cava. There were seven cases of pulmonary atresia with absence of arterial duct and with systemic-pulmonary collateral circulation. There was one case of tetralogy of Fallot with absent pulmonary valve and absent arterial duct and the pulmonary artery was dilated. There was one case of aortopulmonary septal defect with absent arterial duct, with normal pulmonary artery. There were also seven cases of asplenia, seven cases of pulmonary abnormality and seven cases of visceral inversion. Conclusions: The absence of arterial duct is often associated with congenital heart disease. Pulmonary atresia is often associated with systemic-pulmonary collateral circulation. The visceral malformations are related to the accompanying congenital cardiovascular malformations.

Long-term outcomes in children with absent pulmonary valve syndrome: it is not just fixing the heart

ObjectiveAbsent pulmonary valve syndrome (APV) is a rare condition usually associated with tetralogy of Fallot (TOF). Some infants develop respiratory failure from bronchial compression and the long-term neurodevelopmental outcome is...

Fallot-type absent pulmonary valve syndrome with patent ductus arteriosus and disconnected pulmonary arteries.

Fallot-type absent pulmonary valve syndrome with patent ductus arteriosus and disconnected pulmonary arteries.

First trimester diagnosis of Absent Pulmonary Valve (APV): a case report of prenatal treatment with a review of literature and data from The Polish National Registry of Fetal Cardiac Pathology

First trimester diagnosis of Absent Pulmonary Valve (APV): a case report of prenatal treatment with a review of literature and data from The Polish National Registry of Fetal Cardiac Pathology

Complete Atrioventricular Septal Defect with Absent Pulmonary Valve in an Infant with Down syndrome: A Rare Association

Complete Atrioventricular Septal Defect with Absent Pulmonary Valve in an Infant with Down syndrome: A Rare Association

Absent Pulmonary Valve Syndrome - Prenatal Diagnosis and Postnatal Correlation with a Review of Literature

Absent Pulmonary valve syndrome (APVS) or congenital absence of pulmonary valve is a rare conotruncal anomaly in which the pulmonary valve is absent, dysplastic or rudimentary. It can be isolated or associated with tetralogy of Fallot and has a favourable to guarded postnatal outcome according to the associations. In this case report, we discuss an interesting case of APVS with postnatal correlation. Methods: Detailed USG including fetal echocardiography was performed on an ultrasound machine using appropriate presets. The abdominal and cardiac situs were normal. Segmental evaluation of the fetal heart along with color and spectral doppler was performed. Results: The fetus had the typical features of APVS, with a dilated pulmonary artery and branches, a subaortic ventricular septal defect, overriding of the aorta, and agenesis of ductus arteriosus. There was typical to and fro flow noted on color and spectral Doppler imaging representing forward stenotic and retrograde regurgitant flow. Postnatal Echocardiogram confirmed our antenatal findings. Though the baby underwent surgical correction, he succumbed due to the effects of multiorgan dysfunction and the underlying chromosomal defect. Conclusions: A dedicated fetal echocardiography around 22 weeks can accurately diagnose the condition due to its typical features of dilated main and branched pulmonary arteries, absent /dysplastic pulmonary valves with color and spectral doppler revealing features of stenosis and insufficiency. However the outcome of fetuses in APVS with additional anomalies is guarded due to the heart defect itself, respiratory complications and associated chromosomal abnormalities.

Prenatal diagnosis of absent pulmonary valve syndrome

An 18-year-old woman, with a congenital subaortic interventricular communication, was diagnosed with a 17-week gestation. On the first echography, at that gestational age, a subaortic ventricular septal defect (VSD) with...

Unusual Combination of Cardiac Anomalies with Absent Pulmonary Valve Syndrome in a Fetus

Absent pulmonary valve syndrome is a rare anomaly and its combination with a complete atrioventricular septal defect and double-outlet right ventricle is even rarer which has never been reported in the literature as an antenatal diagnosis. We report a case of a 21-week fetus diagnosed having this rare combination of lesions. The main purpose of reporting this case is to highlight the prognostic implications for the fetus with this complex heart defect. There is a high risk of fetal heart failure and a higher risk of associated extracardiac and chromosomal anomalies. Unfortunately, the pregnancy was terminated, and hence, further antenatal course and postnatal details could not be evaluated.

Abstract 15931: Associated Genetic and Non-Cardiac Anomalies and Outcomes in Prenatally Detected Tetralogy of Fallot

Introduction: Historically, prenatal detection of tetralogy of Fallot (ToF) was poor and around 60% had major extracardiac (ECA) or genetic anomalies. Recently, prenatal detection of ToF has improved, along with a wider range of genetic testing options. Knowledge of outcomes and risk of associated anomalies is crucial for prenatal counselling. We hypothesize that prenatal ToF now has a different risk profile for ECAs and genetic anomalies than previously reported. Methods: A retrospective study of all fetuses with a diagnosis of ToF in our Fetal Cardiology program from 2012-2019. ToF type double outlet right ventricle was excluded. Pre and postnatal charts and imaging reports were reviewed for ToF subtype, additional cardiac and non-cardiac diagnoses and outcomes. Results: Of 83 cases, 49 had standard ToF, 24 pulmonary atresia (14 with major collateral arteries, 10 without), and 10 absent pulmonary valve. There was ≥1 ECA in 41% (34/83), including 6% (5/83) with 2 and 4% (3/83) with 3. ECA sub-types were: 10 gastrointestinal, 8 neurological, 8 pulmonary, 7 renal, 4 musculoskeletal, and 8 others. Of 76 with genetic testing, 37% (28/76) had genetic anomalies (32% (9/28) Trisomy 21, 29% (8/28) 22q11 deletion, 7% (2/28) Trisomy 18, 7% (2/28) Trisomy 13, and 25% (7/28) other). Additional diagnoses: 4% (3/76) VACTERL spectrum, 1% (1/76) possible teratogenic effect. Right aortic arch was associated with 22q11 deletion (28% (7/25) vs 2% (1/51) p<0.001). ToF with atrioventricular septal defect (AVSD) was strongly associated with Trisomy 21 (100%, 3/3 tested). Those with ≥1 ECA were more likely to have a genetic abnormality (52% (17/33) vs 24% (9/37), p<0.05). Outcomes were: 22% (18/83) termination, 5% (4/83) intrauterine fetal deaths and 72% (60/83) livebirths, with 1 lost to follow-up. Of live births, there were 3% (2/60) neonatal and 7% (4/60) late deaths, and 90% (54/60) were alive at last follow-up (mean age 3.5±2.4 years). Conclusion: ECAs are less common in prenatally diagnosed ToF in the modern era, however the rate of genetic diagnoses is similar to previously published data. ToF with right aortic arch and ToF with AVSD in particular have strong genetic associations. Additionally, genetic diagnoses are more common in those with an ECA.

Tetralogy of Fallot with Absent Pulmonary Valve Syndrome with Absent Left Pulmonary Artery - A Rare Presentation

Absent left pulmonary artery with Tetralogy of Fallot (TOF) with absent pulmonary valve syndrome (APVS), is a rare congenital cardiac anomaly. Here we present such a case of A 2 year 11 month old girl with cyanosis, exertional dyspnoea. Her diagnosis is confirmed by echocardiography and CT angiogram. There are very few cases have been reported till date with high postoperative mortality. Although per operative decision making was challenging regarding pulmonary valve and size of the RPA, we performed ICR with RPA reductionplasty and creation of monocuspid pulmonary valve with success. As it is a rare association and we have overcome the hindrance we came across per operatively, we are reporting this case.
 Bangladesh Heart Journal 2020; 35(1) : 74-77

Early Infant Symptomatic Patients With Tetralogy of Fallot With Absent Pulmonary Valve: Pulmonary Artery Management and Airway Stabilization

Tracheobronchomalacia and airway obstruction from severely dilated pulmonary arteries in tetralogy of Fallot with absent pulmonary valve (TOF-APV) has been associated with high rates of respiratory failure and mortality (15% to 25%). It is not known whether aggressive pulmonary artery (PA) or direct airway intervention during early definitive cardiac repair improves outcomes. A retrospective observational study was made of all patients undergoing surgical repair for TOF-APV at our center between 2006 and2018. Twenty patients underwent repair at a median age of 51 days and PA Z-scores of 8.1. Twelve patients had a valve implanted, 6 of whom required reoperation for valve replacement at a median of 9 months (range, 3 to 28) compared with 8 who had initial transannular patch, and only 1 patient required subsequent valve replacement (P < .05). Seven patients had central PAs replaced with thin-walled Gore-Tex (WL Gore, Flagstaff, AZ) grafts; none of these required PA reoperation during a median follow-up of 26.5 months, whereas 3 of 13 patients who did not have PA replacement with Gore-Tex required subsequent PA reoperation (P < .05). Concomitant airway interventions (eg, tracheobronchopexy/plasty) were performed in 4 patients and none required subsequent airway interventions, whereas 2 patients not having initial airway intervention required subsequent tracheopexy (P < .05). Three patients in the cohort eventually required tracheostomy (15%), and 2 patients died (10%; on postoperative days 30 and 326); none had received initial airway intervention. Pulmonary artery replacement and aggressive direct airway management at initial definitive repair of cardiac TOF-APV can be performed safely with acceptable survival outcomes and low rates of airway and PA reintervention.

Рідкісний випадок Тетради Фалло із відсутністю клапана легеневої артерії

Рідкісний випадок Тетради Фалло із відсутністю клапана легеневої артерії

LONG-TERM OUTCOMES OF TETRALOGY OF FALLOT WITH ABSENT PULMONARY VALVE: A STUDY FROM THE PEDIATRIC CARDIAC CARE CONSORTIUM

Management of tetralogy of Fallot and absent pulmonary valve (TOF/APV) is challenging and limited data are available on long-term survival after repair. This is a retrospective study of patients operated for TOF/APV between 1982 and 2003 in the Pediatric Cardiac Care Consortium (PCCC), a large US-

Rare Association of Absent Pulmonary Valve Syndrome with Double Outlet Right Ventricle and Hypoplastic Left Heart Complex

Rare Association of Absent Pulmonary Valve Syndrome with Double Outlet Right Ventricle and Hypoplastic Left Heart Complex

Comparative study on ultrasonic diagnosis and pathological anatomy of congenital absent semilunar valve in first trimester

Objective To investigate the echocardiographic characteristics, pathological anatomy and genetic abnormality of congenital absent semilunar valves in first trimester. Methods Eleven cases of congenital absent semilunar valve fetus diagnosed at 11-13+ 6 weeks of gestation in Guangxi Magernity & Child Healthcare Hospital from December 2014 to December 2018 were analyzed. The characteristics of echocardiography and the abnormal microanatomy of cardiac tissue after labor induction was compared. Results The crown-lump length of the 11 fetus was 46-74(62.0±9.2)mm, and nuchal translucency thickness(NT) was 2.4-10.4 (6.4±2.6)mm. The NT of 10 cases were greater than 3.0 mm. Color Doppler flow imaging revealed that biphasic bidirectional flow in the aortic arch and/or pulmonary artery at the 3VT view( to-and-fro ) in those 11 cases, and pansystolic turbulence and pandiastolic reflux spectrum were showed on spectral Doppler. Among them, there were 10 cases of stealing type , including 2 cases of isolate absent aortic valves, 3 cases of absent pulmonary valves and 5 cases of absent both aortic and pulmonary valves; and all the 10 cases had secondary ultrasonic manifestations of fetal heart failure. Chromosome analysis and detection of genes showed that 4 cases with Trisomy 13 syndrome, 3 cases with Trisomy 18 syndrome, 1 case with 22q11.2 deletion, 1 case with 12q24.32q24.33 deletion and 1 case was normal. Pathological anatomy revealed enlarged heart in 8 cases, isolate absent aortic valves in 2 cases (1 case complicated with pulmonary atresia, absence of ductus arteriosus and thymus), absent pulmonary valves in 3 cases, absent both aortic and pulmonary valves in 3 cases, relics of semilunar valves in 3 cases. And 2 cases of absent pulmonary valves and 3 cases of absent both aortic and pulmonary valves with short and thick ductus arteriosus. Only 1 case was congenital absent semilunar valve in non-stealing type without secondary ultrasonic manifestations of fetal heart failure. Chromosome analysis and detection of genes showed 22q11.2 deletion, and there were relics of semilunar valves in the pathological anatomy. It also combined with tetralogy of Fallot and absence of ductus arteriosus. Conclusions In first trimester, congenital absent semilunar valves are more common as stealing type . The echocardiographic features of congenital absent semilunar valves are the in-out sign of aorta arch and/or pulmonary artery and biphasic spectrum in spectral Doppler. Trisomy 13 syndrome and trisomy 18 syndrome significantly increased the risk of congenital absent semilunar valves in stealing type in first trimester. Key words: Echocardiography; Congenital absentsemilunar valve; First trimester; Pathologic diagnosis

Severe Right Ventricular Dysplasia with Absent Pulmonary Valve Syndrome and Tricuspid Atresia: A Literature Review

This is a newborn male prenatally diagnosed with severe right ventricular (RV) hypertrophy and depressed function, aneurysmal dilation of the main pulmonary artery and tachyarrhythmia. Postnatally, he required immediate intu... | Find, read and cite all the research you need on Tech Science Press

Surgical outcomes of absent pulmonary valve syndrome: An institutional experience.

Background:Absent pulmonary valve syndrome (APVS) is a variant of tetralogy of Fallot characterized by aneurysmal pulmonary arteries, which compresses the tracheobronchial tree, leading to respiratory symptoms. We report the mid-term outcomes of surgical correction of patients with APVS.Subject and Methods:A total of 27 patients underwent surgery between 2001 and 2015, and they were followed up for a mean period of 6.4 ± 4.1 years. Out of the 27 patients, 14 (51.9%) were infants. The median age at repair was 9.8 months. Preoperative intubation was required in six patients (22.2%), and 11 patients (40.7%) had symptoms of respiratory distress. The pulmonary valve was replaced with a valved conduit in 15 patients (55.6%), monocusp valve in 6 patients (22.2%), and a transannular patch in 6 patients (22.2%). Reduction pulmonary arterioplasty was done in all patients.Results:The overall 10-year survival was 82.1%. There was 81.1% overall freedom from re-intervention at 10 years. No statistically significant difference was found in 10-year survival (P = 0.464) and reoperation rates (P = 0.129) between valved conduit, monocusp, or transannular patch techniques. Older children had statistically significantly longer survival (P = 0.039) and freedom from re-intervention (P = 0.016) compared to infants. Patients without respiratory complications had 100% 10-year survival and 93.3% freedom from reoperation at 10 years compared to 55.6% and 60.1%, respectively, for patients with respiratory complications.Conclusion:There has been improvement in surgical results for APVS over the years. However, it still remains a challenge to manage infants and patients with persistent respiratory problems.

Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.

Pre-B cell leukemia factor 1 (PBX1) is an essential developmental transcription factor, mutations in which have recently been associated with CAKUTHED syndrome, characterized by multiple congenital defects including congenital heart disease (CHD). During analysis of a whole-exome-sequenced cohort of heterogeneous CHD patients, we identified a de novo missense variant, PBX1:c.551G>C p.R184P, in a patient with tetralogy of Fallot with absent pulmonary valve and extra-cardiac phenotypes. Functional analysis of this variant by creating a CRISPR-Cas9 gene-edited mouse model revealed multiple congenital anomalies. Congenital heart defects (persistent truncus arteriosus and ventricular septal defect), hypoplastic lungs, hypoplastic/ectopic kidneys, aplastic adrenal glands and spleen, as well as atretic trachea and palate defects were observed in the homozygous mutant embryos at multiple stages of development. We also observed developmental anomalies in a proportion of heterozygous embryos, suggestive of a dominant mode of inheritance. Analysis of gene expression and protein levels revealed that although Pbx1 transcripts are higher in homozygotes, amounts of PBX1 protein are significantly decreased. Here, we have presented the first functional model of a missense PBX1 variant and provided strong evidence that p.R184P is disease-causal. Our findings also expand the phenotypic spectrum associated with pathogenic PBX1 variants in both humans and mice.

Adult tetralogy repair: factors affecting early outcome in the current era.

Background The benefits of surgical correction of adult tetralogy of Fallot are well known. The current recommendation is for total correction regardless of age. This study analyzed perioperative factors affecting early outcome after corrective surgery in adulthood in the current era. Methods This was a retrospective chart review of 40 consecutive patients over 18 years of age who underwent total correction of tetralogy of Fallot from September 2006 to June 2013. Patients with pulmonary atresia and absent pulmonary valve were excluded. The mean age at surgery was 26.60 ± 8.69 years (range 18–49 years). Results The mean intensive care unit stay was 3.30 ± 2.29 days (range 0.75–12 days) and hospital stay was 9.97 ± 3.39 days (range 7–22 days). Mortality was 5% (2/40). Multiple parameters indicating immediate postoperative outcomes and their relationships to selected pre-, intra-, and postoperative factors were analyzed. Multivariate analysis showed that postoperative right ventricular dysfunction had a significant influence on mortality ( p &lt; 0.001) and hospital stay ( p = 0.01). Performing zero-balance ultrafiltration decreased the need for renal replacement therapy ( p = 0.034), duration of ventilation ( p = 0.009), incidence of low cardiac output ( p = 0.006), intensive care unit stay ( p = 0.01), and hospital stay ( p = 0.009). Conclusions Total correction of tetralogy of Fallot is a safe option for presentations as late as adulthood. The protective effect of zero-balance ultrafiltration on postoperative morbidity needs to be reassessed in larger studies.