Tetralogy of Fallot With Absent Pulmonary Valve Syndrome: The Experience of a Tertiary Care Center in a Developing Country.

BACKGROUND: Tetralogy of Fallot with an absent pulmonary valve is a very rare variant of tetralogy. It is characterized by absent valve tissue, severe pulmonary regurgitation, and secondary aneurysmal dilatation of the pulmonary arteries. AIM: In this study, we aim to investigate the clinical presentations, management strategies, and outcomes of patients with tetralogy of Fallot and absent pulmonary valve. METHODOLOGY: We retrospectively reviewed the charts of all patients who presented to the American University of Beirut Medical Center between January 2010 and December 2020 and who were diagnosed with this anomaly. RESULTS: A total of 300 cases of tetralogy of Fallot were identified, of which 18 patients had absent pulmonary valves. They were followed up for an average of 8.2 years. Prenatal diagnoses were made in four patients, while 13 patients were identified in the neonatal period, with an average age of 4.5 days. Genetic testing confirmed DiGeorge syndrome in one patient. Five patients underwent surgical intervention in the neonatal period, while the remaining patients were operated on during their early childhood. While overall there were no surgical mortalities nor any need for reinterventions, a variety of morbidities were encountered. CONCLUSION: This study provides an overview of this rare anomaly and its management in a developing country.

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.

Bicuspidisation of unicuspid stenotic pulmonary valve in a nine-year-old male.

We report the case of a 9-year-old male with severe congenital pulmonary valve stenosis referred to our centre for percutaneous valvotomy. On admission, trans-thoracic echocardiogram confirmed a unicuspid pulmonary valve with a peak/mean pulmonary valve gradient of 91/53 mmHg and a pulmonary annulus of 13.8 mm (-0.8 Z Score). It also showed an enlarged RV (RV/LV ratio 0,9). During cardiac catheterisation, an additional atrial septal defect (secundum) with significant left to right shunt (Qp/Qs > 2) was diagnosed, which was not amenable to percutaneous closure. The patient was referred for surgical repair.The atrial septal defect was closed by a direct running suture. The repair of the unicuspid valve consisted in bicuspidisation by a large commissurotomy to the left anterior wall of the pulmonary artery. The neo-commissure was created with two separate patches of autologous pericardium secured to the wall of the pulmonary root. The adjustment of the effective height of the pulmonary valve leaflets was done by trimming the patches and a triangular plication of the newly created posterior leaflet. Perioperative echocardiogram showed a peak gradient of 15 mm Hg and trivial pulmonary regurgitation. The total cross-clamp time was 92 min and the bypass time 123 min with a favourable evolution after the surgery.The particularity of the case is represented by the complexity of the bicuspidisation procedure. Using this technique, a tailored approach is needed for every patient.

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.

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.

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.

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.

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.

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.

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.

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.

Percutaneous pulmonary valve implantation in a dysfunctional Trifecta® bioprothesis after high-pressure balloon fracturing.

A percutaneous pulmonary valve-in-valve (PPVIV) implantation in small surgical tissue valves may be limited due to the valve's initial diameter. Fracturing of the valve's integrity by high-pressure balloons may enhance the diameter and facilitate subsequent PPVIV with a large valve. To the best of our knowledge, the Trifecta® valve seemed not to be accessible for fracturing. We report a case of successful 19-mm Trifecta valve fracturing, followed by PPVIV using a 26-mm Edwards SAPIEN 3 valve in pulmonary position. By repetitively using a high-pressure balloon 5 mm larger than the labeled valve size, we were able to fracture the valve's integrity and implant a 26-mm valve thereafter. Therefore, Trifecta valve appears to be suitable for valve ring fracturing and subsequent PPVIV in certain patients.

Repair of tetralogy of Fallot associated with anomalous origin of right pulmonary artery and accessory left anterior descending coronary artery.

We present an unusual combination of lesions in an 8-month-old child diagnosed with tetralogy of Fallot, anomalous origin of right pulmonary artery, and anomalous coronary artery crossing the pulmonary annulus. The association of anomalous origin of branch pulmonary artery from aorta and tetralogy of Fallot (TOF) is extremely rare with an incidence of 0.4%. The incidence of anomalous coronary artery in TOF is 10.3%. However, a combination of all three lesions poses challenges to surgical repair and has not been previously reported.

Congenital right coronary artery aneurysm with fistula to right ventricle associated with isolated pulmonary valvular stenosis.

Congenital aneurysmal dilatation of coronary artery with coronary cameral fistula is rare in childhood. We report an even rarer association of congenital right coronary artery aneurysm and right coronary artery to right ventricle fistula with bicuspid pulmonary valve stenosis and an intact ventricular septum in a 3-year-old child.

The progression of an acceptable pulmonary stenosis immediately after total correction of tetralogy of Fallot.

BACKGROUND: A certain degree of pulmonary stenosis after total correction of tetralogy of Fallot has been considered acceptable. But the long-term outcomes are not well understood. We observed the natural course of immediate pulmonary stenosis and investigated related factors for progression. METHODS: Fifty-two patients with acceptable pulmonary stenosis immediately after operation were enrolled. Acceptable pulmonary stenosis was defined as peak pressure gradient between 15 and 45 mmHg by Doppler echocardiography. Latent class linear mixed model was used to differentiate patients with progressed pulmonary stenosis, and the factors related to progression were analysed. RESULTS: Pulmonary stenosis progressed in 14 patients (27%). Between the progression group and no progression group, there were no significant differences in operative age, sex, and the use of the transannular patch technique. However, immediate gradient was higher in the progression group (32.1 mmHg versus 25.7 mmHg, p = 0.009), and the cut-off value was 26.8 mmHg (sensitivity = 65.3%, specificity = 65.8%). Main stenosis at the sub-valve was observed more frequently in the progression group (85.7% versus 52.6%, p = 0.027). Despite no difference in the preoperative pulmonary valve z value, the last follow-up pulmonary valve z value was significantly lower in the progression group (-1.15 versus 0.35, p = 0.002). CONCLUSIONS: Pulmonary stenosis immediately after tetralogy of Fallot total correction might progress in patients with immediate pulmonary stenosis higher than ≥26.8 mmHg and the main site was sub-valve area.

Tricuspid atresia with absent pulmonary valve and intact ventricular septum: successful bidirectional cavopulmonary anastomosis with complete exclusion of the right ventricle.

Tricuspid atresia with absent pulmonary valve and intact ventricular septum is an extremely rare cardiac malformation, historically associated with a poor prognosis. Only a few cases with successful surgical palliation have been reported in the literature. We present the case of an 8-month-old infant with this malformation who underwent successful bidirectional cavopulmonary anastomosis with complete exclusion of the right ventricle.

Quadricuspid pulmonary valve: macroscopic and microscopic morphometric examination.

A quadricuspid pulmonary valve obtained upon autopsy of a 26-year-old male was examined. The macroscopic evaluation revealed three normal (posterior, right anterior and left anterior) leaflets and one additional leaflet of the pulmonary valve. Except that, the heart showed neither other anatomical variabilities nor any signs of heart disease. The additional leaflet was located between the left anterior and right anterior leaflets and was significantly smaller in size. Under the microscope, all leaflets showed preservation of the typical, layered structure. The thickness and extracellular matrix composition of the particular layers differed between the leaflets. Right ventricular myocardium (myocardial sleeves) exceeded the level of the hinge line in all three normal leaflets, which was not observed in the additional leaflet. Autonomic nerves and ganglia were not seen in the perivalvular epicardial adipose tissue surrounding the additional leaflet. The sinus wall of all the leaflets revealed typical organization of collagen bundles as well as elastic fibers and showed no signs of disruption. The abnormality seen in the structure of the pulmonary valve is likely to be a result of disturbed embryonic development and may affect the clinical management of patients with such variation.

Right aortic arch with mirror image branching accompanied by absent pulmonary valve syndrome and tricuspid stenosis: Prenatal echocardiographic diagnosis of an unusual congenital heart defect.

Right aortic arch (RAA) with mirror image branching (RAMI) accompanied by absent pulmonary valve syndrome (APVS), tricuspid stenosis, and hypoplastic right ventricle is an extremely rare combination of congenital heart anomalies. This combination might result in severe cardiac failure and respiratory compromise, indicating a poor prognosis. Here, we describe a detailed prenatal echocardiographic diagnosis of RAMI accompanied by APVS and tricuspid stenosis. These anomalies were further confirmed by autopsy. This case could be helpful in improving our understanding of this abnormal combination and the development of an early therapeutic strategy.

Multimodality imaging of quadricuspid pulmonary valve associated with pulmonary artery aneurysm.

Quadricuspid pulmonary valve is a rare entity that can be associated with pulmonary artery aneurysm. It is usually asymptomatic and diagnosed incidentally. Association with other congenital or acquired heart diseases has been reported. Echocardiography and gated CT angiography can provide useful functional and anatomic information that can help in the diagnosis and management.

Fetal and postnatal echocardiographic imaging of transposition of the great arteries with the aortic valve posterior to the pulmonary valve.

Transposition of the great arteries (TGA) with a posterior aorta is an uncommon but historically important variant of TGA. In this arrangement, the aorta is posterior to the pulmonary valve, maintains fibrous continuity with the mitral valve, and arises from the right ventricle. We present a case of fetal echocardiography demonstrating TGA with a posterior aorta. Postnatal transthoracic echocardiography and intra-operative assessment confirm the anatomy. To the best of our knowledge, this is the first published case of this anatomic lesion by fetal echocardiography.