Incidence of quadricuspid pulmonary valves at postmortem examination.

Quadricuspid pulmonic valve is a rare congenital abnormality and because of its difficult non-invasive assessment, it is usually discovered incidentally at autopsies (reported prevalence in post-mortem specimens ranges from 1 in 400 to 1 in 2000). Unlike a bicuspid pulmonary valve, it rarely presents with clinical complications, such as valvular insufficiency or stenosis. Abnormal function is rarely reported in cases that are not associated with other congenital heart disease. With increased sophistication of imaging coincidental quadricuspid valves autopsy studies are important to understand the anatomical consequences of this finding. Our case series identified 21 QPV cases from the Victorian Institute of Forensic Medicine, Melbourne and St George's University of London, Department of Cardiovascular Pathology. Cases were identified through local database searches and review of autopsy/cardiac examination reports over a 20-year period. Available photographs were also systematically examined. Fifteen cases had causes of death with no direct causality to cardiac valvular pathology alone. Six cases were considered unascertained or similar (sudden arrhythmic death syndrome and sudden unexpected death in epilepsy). The presence of QPV in these instances were uncertain but thought to be unlikely contributory to death, due to the absence of pulmonary valvular complications.

Partial Heart Transplant in a Neonate With Irreparable Truncal Valve Dysfunction.

Importance: The treatment of neonates with irreparable heart valve dysfunction remains an unsolved problem because there are no heart valve implants that grow. Therefore, neonates with heart valve implants are committed to recurrent implant exchanges until an adult-sized valve can fit. Objective: To deliver the first heart valve implant that grows. Design, Setting, and Participants: Case report from a pediatric referral center, with follow-up for more than 1 year. Participants were a recipient neonate with persistent truncus arteriosus and irreparable truncal valve dysfunction and a donor neonate with hypoxic-ischemic brain injury. Intervention: First-in-human transplant of the part of the heart containing the aortic and pulmonary valves. Main Outcomes and Measures: Transplanted valve growth and hemodynamic function. Results: Echocardiography demonstrated adaptive growth and excellent hemodynamic function of the partial heart transplant valves. Conclusions and Relevance: In this child, partial heart transplant delivered growing heart valve implants with a good outcome at age 1 year. Partial heart transplants may improve the treatment of neonates with irreparable heart valve dysfunction.

Tricuspid Atresia with Absent Pulmonary Valve with Nearly Discontinuous Branch Pulmonary Arteries.

Absent pulmonary valve with tricuspid atresia or tricuspid stenosis (APV-TA/TS) is an extremely rare congenital heart defect associated with significant morbidity and mortality. Compared to Tetralogy of Fallot with Absent Pulmonary Valve Syndrome, branch pulmonary arteries are not typically significantly dilated. We present the case of a newborn male prenatally diagnosed APV-TA with intact ventricular septum (IVS) and nearly discontinuous branch pulmonary arteries, the surgical strategy employed, and the salient hemodynamic factors considered in the medical decision-making.

Trileaflet semilunar valve reconstruction: pulsatile in vitro evaluation.

OBJECTIVES: Residual regurgitation is common after congenital surgery for right ventricular outflow tract malformation. It is accepted as there is no competent valve solution in a growing child. We investigated a new surgical technique of trileaflet semilunar valve reconstruction possessing the potential of remaining sufficient and allowing for some growth with the child. In this proof-of-concept study, our aim was to evaluate if it is achievable as a functional pulmonary valve reconstruction in vitro. METHODS: Explanted pulmonary trunks from porcine hearts were evaluated in a pulsatile flow-loop model. First, the native pulmonary trunk was investigated, after which the native leaflets were explanted. Then, trileaflet semilunar valve reconstruction was performed and investigated. All valves were initially investigated at a flow output of 4 l/min and subsequently at 7 l/min. The characterization was based on hydrodynamic pressure and echocardiographic measurements. RESULTS: Eight pulmonary trunks were evaluated. All valves are competent on colour Doppler. There is no difference in mean pulmonary systolic artery pressure gradient at 4 l/min (P = 0.32) and at 7 l/min (P = 0.20). Coaptation length is increased in the neo-valve at 4 l/min (P < 0.001, P < 0.001, P = 0.008) and at 7 l/min (P < 0.001, P = 0.006, P = 0.006). A windmill shape is observed in all neo-valves. CONCLUSIONS: Trileaflet semilunar valve reconstruction is sufficient and non-stenotic. It resulted in an increased coaptation length and a windmill shape, which is speculated to decrease with the growth of the patient, yet remains sufficient as a transitional procedure until a long-term solution is feasible. Further in vivo investigations are warranted.

Rare association of absent pulmonary valve syndrome, complete atrioventricular canal defect, double outlet right ventricle, right aortic arch, and aberrant right subclavian artery in a fetal case.

Absent pulmonary valve syndrome (APVS) is a rare congenital cardiac anomaly. It is often associated with TOF, but may also be associated with an intact ventricular septum or, more rarely, with tricuspid atresia. It's combination with a complete atrioventricular septal defects and double outlet right ventricle has been reported extremely rare, even in the postnatal period. Herein, we report a 20-week-old fetus with a right aortic arch and an aberrant left subclavian artery with this rare combination. We report a case of a 20-week fetus diagnosed having this rare combination of right aortic arch and aberrant left subclavian artery. The APVS with complete atrioventricular septal defects may represent another type of APVS.

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

OBJECTIVES: Absent 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. METHODS: We performed a retrospective survey of patients with this diagnosis and repair from 1988 to 2018. RESULTS: Twenty 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. CONCLUSIONS: The 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.

Right Ventricular Outflow Tract Myxoma with Absent Pulmonary Valve.

Myxoma is the most common benign cardiac tumor. Absent pulmonary valves, often treated surgically in childhood, are associated with 3-6% of tetralogy of Fallot. It is unusual for absent pulmonary valves without other congenital heart diseases to be asymptomatic until adulthood. Here, we report the unique case of an 80-year-old female with right ventricular outflow tract myxoma and absent pulmonary valve that has, to our knowledge, never been reported. We successfully performed a simple mass resection and pulmonary valve implantation.

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.

Right ventricular outflow tract anomalies: Neonatal interventions and outcomes.

Right ventricular outflow tract (RVOT) anomalies comprise a wide spectrum of congenital heart disease, typically characterized by obstruction to flow from the right ventricle to pulmonary arteries. This review highlights important considerations surrounding management strategy as well as clinical outcomes for the neonate with RVOT anomaly, including: pulmonary atresia with intact ventricular septum, congenital pulmonary valve stenosis, tetralogy of Fallot, and Ebstein anomaly with anatomic or physiologic RVOT obstruction.

Absent pulmonary valve with double-outlet left ventricle: a case report.

Absent pulmonary valve syndrome and double-outlet left ventricle are rare congenital anomalies, with, to the best of our knowledge, no cases reported to date. We present the treatment course in a patient with an absent pulmonary valve, double-outlet left ventricle, dextrocardia, hypoplastic right ventricle, valvular aortic stenosis, and bronchomalacia.

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.

Management and outcome of prenatal absent pulmonary valve syndrome.

OBJECTIVE: The purpose of this study was to explore the outcome in fetuses with prenatal diagnosis of absent pulmonary valve syndrome (APVS) on ultrasound imaging. METHODS: A 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. RESULTS: Seven 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%). CONCLUSION: The 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.

Fontan operation for tricuspid atresia with absent pulmonary valve: a case series.

Combined tricuspid atresia and absent pulmonary valve with dysplasia of the right ventricular myocardium is a very rare congenital heart anomaly with a poor prognosis. We present three cases of this rare disease that reached the Fontan operation without prior surgical intervention of the right ventricle or pulmonary artery; no right ventriclar dilation was detected. All patients had uneventful post-operative courses.

Long Term Outcomes of Tetralogy of Fallot With Absent Pulmonary Valve (from the Pediatric Cardiac Care Consortium).

Tetralogy of Fallot with absent pulmonary valve (TOF-APV) is a rare form of tetralogy with unique challenges due to the combination of pulmonary annular stenosis, severe pulmonary regurgitation, and airway compression secondary to aneurysmal dilatation of the pulmonary arteries. Data on the long-term outcomes of repaired TOF-APV are scarce. We used the Pediatric Cardiac Care Consortium (PCCC), a large US-based registry, to describe the postrepair transplant-free survival of patients with TOF-APV. We queried the PCCC for patients operated for TOF-APV between 1982 and 2003. Death or transplant events were ascertained from the PCCC and by linkage with the US National Death Index and the Organ Procurement Transplantation Network through December 2019. A total of 126 patients were identified with TOF-APV repair (primary n = 119, staged n = 7). The majority of them were repaired with a right ventricular to pulmonary artery conduit (n = 80, 64%) and 43 (34%) with transannular patch. In-hospital mortality occurred in 31 patients (25%); post discharge and over a median period of 19 years (IQR 0.37 to 23.7 years), 5 patients died and 2 underwent heart transplant, one of whom subsequently died. The 25-year transplant-free survival post discharge after TOF-APV repair was 92%, which was similar with the outcome of patients with simple TOF undergoing non-valve sparing procedures (94% log-rank test p = 0.455; aHR 1.37; 95% CI: 0.63 to 2.97, p = 0.432). In conclusion, early in-hospital mortality is high for TOF-APV; however, once repaired and survived to discharge, long term survival is similar to simple TOF with non-valve sparing procedures.

Biomechanical Modeling to Inform Pulmonary Valve Replacement in Tetralogy of Fallot Patients After Complete Repair.

BACKGROUND: A biomechanical model of the heart can be used to incorporate multiple data sources (electrocardiography, imaging, invasive hemodynamics). The purpose of this study was to use this approach in a cohort of patients with tetralogy of Fallot after complete repair (rTOF) to assess comparative influences of residual right ventricular outflow tract obstruction (RVOTO) and pulmonary regurgitation on ventricular health. METHODS: Twenty patients with rTOF who underwent percutaneous pulmonary valve replacement (PVR) and cardiovascular magnetic resonance imaging were included in this retrospective study. Biomechanical models specific to individual patient and physiology (before and after PVR) were created and used to estimate the RV myocardial contractility. The ability of models to capture post-PVR changes of right ventricular (RV) end-diastolic volume (EDV) and effective flow in the pulmonary artery (Qeff) was also compared with expected values. RESULTS: RV contractility before PVR (mean 66 ± 16 kPa, mean ± standard deviation) was increased in patients with rTOF compared with normal RV (38-48 kPa) (P < 0.05). The contractility decreased significantly in all patients after PVR (P < 0.05). Patients with predominantly RVOTO demonstrated greater reduction in contractility (median decrease 35%) after PVR than those with predominant pulmonary regurgitation (median decrease 11%). The model simulated post-PVR decreased EDV for the majority and suggested an increase of Qeff-both in line with published data. CONCLUSIONS: This study used a biomechanical model to synthesize multiple clinical inputs and give an insight into RV health. Individualized modeling allows us to predict the RV response to PVR. Initial data suggest that residual RVOTO imposes greater ventricular work than isolated pulmonary regurgitation.

Contemporary Outcomes in Tetralogy of Fallot With Absent Pulmonary Valve After Fetal Diagnosis.

Background Tetralogy of Fallot with absent pulmonary valve is associated with high mortality, but it remains difficult to predict outcomes prenatally. We aimed to identify risk factors for mortality in a large multicenter cohort. Methods and Results Fetal echocardiograms and clinical data from 19 centers over a 10-year period were collected. Primary outcome measures included fetal demise and overall mortality. Of 100 fetuses, pregnancy termination/postnatal nonintervention was elected in 22. Of 78 with intention to treat, 7 (9%) died in utero and 21 (27%) died postnatally. With median follow-up of 32.9 months, no deaths occurred after 13 months. Of 80 fetuses with genetic testing, 46% had chromosomal abnormalities, with 22q11.2 deletion in 35%. On last fetal echocardiogram, at a median of 34.6 weeks, left ventricular dysfunction independently predicted fetal demise (odds ratio [OR], 7.4; 95% CI 1.3, 43.0; P=0.026). Right ventricular dysfunction independently predicted overall mortality in multivariate analysis (OR, 7.9; 95% CI 2.1-30.0; P=0.002). Earlier gestational age at delivery, mediastinal shift, left ventricular/right ventricular dilation, left ventricular dysfunction, tricuspid regurgitation, and Doppler abnormalities were associated with fetal and postnatal mortality, although few tended to progress throughout gestation on serial evaluation. Pulmonary artery diameters did not correlate with outcomes. Conclusions Perinatal mortality in tetralogy of Fallot with absent pulmonary valve remains high, with overall survival of 64% in fetuses with intention to treat. Right ventricular dysfunction independently predicts overall mortality. Left ventricular dysfunction predicts fetal mortality and may influence prenatal management and delivery planning. Mediastinal shift may reflect secondary effects of airway obstruction and abnormal lung development and is associated with increased mortality.

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

OBJECTIVE: Absent 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 unknown. We aimed to investigate the outcomes of APV and the need for long-term ventilation (LTV). DESIGN, PATIENTS AND SETTING: Retrospective single-centre review of patients diagnosed with APV between 2007 and 2017. OUTCOME MEASURES: Survival, neurological disability and postoperative LTV (≥3 months of non-invasive or invasive respiratory support). RESULTS: Thirty patients were identified, 22 (73%) of whom were prenatally diagnosed. Pregnancy was discontinued in one patient, while in utero death occurred in three. One was lost to follow-up. Of the remaining 25 liveborn, 21 had the classic TOF/APV. One baby died immediately after birth, while two patients had palliative care due to severe airway compression and inability to wean ventilation support. Surgical repair was performed in 21 of the 25 (84%) liveborn, with one awaiting surgery. Of those undergoing surgery, two patients died: one during surgery and the other due to severe airway malacia 5 months postsurgery. In the surgical group survival from birth at 1 and 5 years was 89% (95% CI 75% to 100%). Six (30%) patients required LTV postoperatively; all had surgery within the first 6 months of life. Learning and/or other physical difficulties were evident in 63%. CONCLUSIONS: Majority of patients with APV are diagnosed antenatally. A third of those operated required LTV and over half had learning and/or other physical difficulties. Prospective studies are needed to identify prenatal factors that predict postnatal outcomes so parents can be counselled appropriately.