Pulmonary Valve Atresia Research Articles

Cyanotic heart disease due to a hypoplastic right ventricle with pulmonary valve atresia, an intact ventricular septum, with atrial level shunting in a day‐old Arabian foal

AbstractAn 8‐h‐old Arabian foal was presented for evaluation of progressive weakness since birth. The foal presented laterally recumbent with pale and muddy mucous membranes, a grade III/VI left basilar murmur, and an irregularly, irregular rhythm. Transthoracic echocardiogram along with an electrocardiogram (EKG) was performed. Atrial fibrillation was recorded throughout the examination. The left and right atria were both significantly enlarged. A right to left shunt across the atrial septum was confirmed via an intravenous injection of agitated saline. The tricuspid valve was rudimentary without apparent atrioventricular flow and no ventricular septal defect was appreciated. The animal was euthanased, and necropsy found dysplasia of the tricuspid valve, a hypoplastic right ventricle with pulmonary valve atresia, and an intact ventricular septum. This condition is similar, both haemodynamically and in terms of prognosis, to tricuspid atresia, which has been described previously in Arabian foals, with the exception that there is the complete absence of connection between the atrium and ventricle in the case of tricuspid atresia. Of 14 previously reported cases of tricuspid atresia in neonatal foals, nine were Arabian foals. Further investigation into the possibility of hypoplastic right ventricle as a familial condition in the Arabian breed should be considered.

Perinatal outcomes following early prenatal diagnosis: insights from a single-center experience with Ebstein anomaly and tricuspid valve dysplasia.

Ebstein anomaly (EA) and tricuspid valve dysplasia (TVD) represent uncommon congenital malformations of the tricuspid valve. The purpose of this study is to report on current perinatal outcomes of EA/TVD in our center and to investigate clinical and fetal echocardiographic predictors of perinatal mortality. We performed a retrospective study among fetuses diagnosed from January 2014 to December 2023. Clinical and echocardiographic data were obtained from hospital records of Research and Education Hospital. The primary outcome was perinatal mortality. Of 21 fetuses diagnosed, there were 1 lost to follow-up, 1 termination, and 7 demises. In the live-born cohort of 12 live-born patients, 2 died before discharge, yielding an overall perinatal mortality of 50%. The median gestational age at diagnosis was 23 for non-survivors and 24weeks for survivors. Birth weight was lower in non-survivors (2430g vs 2990g). Tricuspid insufficiency severity varied insignificantly. Non-survivors exhibited higher rates of hydrops, functional atresia, and absent antegrade flow (p < 0.05). Two infants with severe tricuspid insufficiency and congenital abnormalities died postnatally. The limited dataset enables further analysis for a predictive model. Notably, all non-survivors displayed hydrops, functional atresia, and absent antegrade flow, hindering definitive determination of the most impactful parameter on survival estimation. Perinatal mortality remains notably elevated in fetuses with EA/TVD. The individuals at the highest risk are those with antegrade flow loss and functional atresia of pulmonary valve, this high-risk subgroup could benefit from targeted interventions, such as novel prenatal therapies or a more comprehensive perinatal approach involving optimized timing of delivery and postnatal interventional strategies.

The American Association for Thoracic Surgery (AATS) 2024 expert consensus document: Management of neonates and infants with Ebstein anomaly

ObjectivesSymptomatic neonates and infants with Ebstein anomaly (EA) require complex management. A group of experts was commissioned by the American Association for Thoracic Surgery to provide a framework on this topic focusing on risk stratification and management. MethodsThe EA Clinical Congenital Practice Standards Committee is a multinational and multidisciplinary group of surgeons and cardiologists with expertise in EA. A citation search in PubMed, Embase, Scopus, and Web of Science was performed using key words related to EA. The search was restricted to the English language and the year 2000 or later and yielded 455 results, of which 71 were related to neonates and infants. Expert consensus statements with class of recommendation and level of evidence were developed using a modified Delphi method, requiring 80% of members votes with at least 75% agreement on each statement. ResultsWhen evaluating fetuses with EA, those with severe cardiomegaly, retrograde or bidirectional shunt at the ductal level, pulmonary valve atresia, circular shunt, left ventricular dysfunction, or fetal hydrops should be considered high risk for intrauterine demise and postnatal morbidity and mortality. Neonates with EA and severe cardiomegaly, prematurity (<32 weeks), intrauterine growth restriction, pulmonary valve atresia, circular shunt, left ventricular dysfunction, or cardiogenic shock should be considered high risk for morbidity and mortality. Hemodynamically unstable neonates with a circular shunt should have emergent interruption of the circular shunt. Neonates in refractory cardiogenic shock may be palliated with the Starnes procedure. Children may be assessed for later biventricular repair after the Starnes procedure. Neonates without high-risk features of EA may be monitored for spontaneous closure of the patent ductus arteriosus (PDA). Hemodynamically stable neonates with significant pulmonary regurgitation at risk for circular shunt with normal right ventricular systolic pressure should have an attempt at medical closure of the PDA. A medical trial of PDA closure in neonates with functional pulmonary atresia and normal right ventricular systolic pressure (>20-25 mm Hg) should be performed. Neonates who are hemodynamically stable without pulmonary regurgitation but inadequate antegrade pulmonary blood flow may be considered for a PDA stent or systemic to pulmonary artery shunt. ConclusionsRisk stratification is essential in neonates and infants with EA. Palliative comfort care may be reasonable in neonates with associated risk factors that may include prematurity, genetic syndromes, other major medical comorbidities, ventricular dysfunction, or sepsis. Neonates who are unstable with a circular shunt should have emergent interruption of the circular shunt. Neonates who are unstable are most commonly palliated with the Starnes procedure. Neonates who are stable should undergo ductal closure. Neonates who are stable with inadequate pulmonary flow may have ductal stenting or a systemic-to-pulmonary artery shunt. Subsequent procedures after Starnes palliation include either single-ventricle palliation or biventricular repair strategies.

Outcomes of Surgical Repair of Tetralogy of Fallot: A Comparison Between the Adult and Pediatric Population.

Introduction Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. Early detection and timely treatment have provided successful repair of the anomaly in the developed world. However, in the developing world, there is still a burden of uncorrected TOF patients reaching adulthood. The goal of this study is to determine whether there is any difference in postoperative complications between adult and pediatric populationsfollowing surgical correction for TOF. Methods This study involved all those patients who received primary or secondary surgical repair for TOF in our facility between January 2017 and December 2020. The patients were split according to their age into the pediatric groupif they were under 18 years and the adult groupif they were 18 years or older. Patients with absent pulmonary valve or pulmonary atresia were not included in this study. Patients with large major aortopulmonary collateral arteries (MAPCA) were also excluded from this study. All patients underwent total correction through a median sternotomy approach. The ventricular septal defect was closed with a Bard knitted fiber patch. The right ventricular outflow tract (RVOT) was augmented by excising muscle bands or fibrous bands in the RVOT. If the annulus was smaller than the 3.5 z score, then a transannular patch was done using an autologous pericardium. The main pulmonary artery was augmented in every surgery using an autologous pericardial patch. All patients were shifted to the ICU on the ventilator and were extubated after fulfillment of the extubation criteria. Postoperative complications measured included re-opening, re-intubation, prolonged ventilation (>24 hours), and mortality within the index hospital admission. The clinical data of all patients were prospectively collected and analyzed using the chi-square test and t-test. A p-value of less than or equal to 0.05 was considered significant. Results The total number of patients was 134. This included 83 males (60.1%). A total of 114 patients who were aged below 18 years were included in the pediatric group, and 20 patients aged equal to or more than 18 years were included in the adult group. The mean average perfusion time in minutes in the adult group was 125.8 and in the pediatric group, it was 98.79. Similarly, the mean average of the cross-clamp time was also longer in the adult group at 89.55 minutes versus 69.63 minutes in the pediatric group. Overall, in the adult group, three (15%) patients had postoperative complications, while in the pediatric group, a total of 14 (11.9%) patients had postoperative complications (p = 0.001). However, there was no significant difference in the number of re-openings (8.5% vs. 10%; p = 0.8). The total mortality observed was 16 (11.59%). This included 14 (11.9%) in the pediatric group and two (10%) in the adult group. There was no significant difference between the two groups (p = 0.8). Conclusions Surgical repair of TOF can be performed in both adult and pediatric populations with acceptable outcomes. The mortality rate was found to be slightlygreater in the pediatric population compared to the adults. However, it can be seen that the number of postoperative complications is greater in adults. Further research is needed to optimize outcomes for both pediatric and adult patients with TOF.

Sunspot activity and birth defects among Texas births (1999-2016).

Building on findings that linked higher levels of sunspot (SS) activity with a range of health and adverse birth outcomes, we sought to understand how SS activity over a 17-year time period may be correlated with the occurrence of birth defects. Data from the Texas Birth Defects Registry, vital events from the Texas Center for Health Statistics, and mean monthly numbers of sunspots from the National Oceanic and Atmospheric Administration were utilized. Poisson regression was used to calculate crude/adjusted prevalence ratios (cPRs/aPRs) and 95% confidence intervals for three quartiles (Q) of increasing SS activity (compared to a referent of low activity) and 44 birth defects (31 non-cardiac; 13 cardiac) with estimated dates of conception from 1998 to 2016. We found moderately protective aPRs (range: 0.60-0.89) in a little over half of the case groups examined in our quartiles of higher SS activity (19 non-cardiac; 6 cardiac), after adjusting for maternal age, race/ethnicity, and education. Particularly protective aPRs in the highest SS quartiles (Q3-4) were noted for: anophthalmia, cataract, gastroschisis, trisomy 18, ventricular septal defects, atrial septal defects, and pulmonary valve atresia or stenosis. Conversely, modestly elevated aPRs were noted for two defect groups (agenesis, aplasia, and hypoplasia of the lung and microcephaly [Q2-3]). Following an additional adjustment of year of conception, results remained similar although many of the estimates were attenuated. The seemingly protective associations between increasing SS activity may be an artifact of increasing spontaneous abortions that occur following conception during these periods of heightened SS activity.

Influencing factors of prognosis in children with pulmonary atresia with intact ventricle septum after transthoracic balloon dilation of pulmonary valve and construction of a nomograph prediction model

ABSTRACT This study aimed to identify factors that affect the prognosis of children with pulmonary valve atresia and intact ventricular septum treated with transthoracic balloon dilation of the pulmonary valve. The study included 148 participants who were followed up for 5 years. Of these, 10 died, while 138 survived. Independent sample t-test and χ2 test were used to analyze clinical data of children in the death and survival groups. It was found that height, weight, body surface area, arterial oxygen saturation, degree of tricuspid regurgitation, pulmonary valve cross valve pressure difference, ICU length of stay, length of stay, reoperation intervention, and complications were statistically significant (P<0.05). ROC curve analysis of the measurement indicators with statistically significant differences showed that height, weight, body surface area, arterial oxygen saturation, ICU length of stay, and length of stay had AUCs ranging from 0.723 to 0.870. Logistic regression analysis revealed that the degree of tricuspid regurgitation, pulmonary valve cross valvular pressure difference, ICU length of stay, reoperation intervention, and complications were independent risk factors that affect the prognosis of patients with PA/IVS undergoing transthoracic balloon dilation of pulmonary valve. The study proposed a nomogram prediction model using R language software 4.0 ”rms” package, which was validated using calibration curve and decision curve. The model had a C-index of 0.667 (95% CI: 0.643-0.786) and high degree of fit. This study provides clinicians with a prediction model to identify children with poor prognosis after treatment with transpulmonary valve balloon dilatation.

Early spontaneous closure of large arterial ducts in two term neonates with Ebstein anomaly after failed attempts of transcatheter closure.

In neonatal Ebstein's anomaly of the tricuspid valve, prolonged ductal patency in patients without anatomic pulmonary valve atresia can be deleterious. Circular shunts may develop in patients with different degrees of pulmonary and tricuspid insufficiency. Closure of the arterial duct may result in haemodynamic improvement in particular scenarios. The transcatheter approach is a valuable closure alternative despite some technical difficulties in large-sized arterial ducts and low birth weight neonates. Herein, we report on two consecutive term newborns with Ebstein's anomaly and large arterial ducts in whom mechanical stimulus of the arterial duct during failed attempts of transcatheter closure led after two days to definitive closure followed by good clinical outcomes.

Outcome of Membranous Pulmonary Valve Atresia with Intact Ventricular Septum Treated by Cardiac Catheterization in a Developing Country

Outcome of Membranous Pulmonary Valve Atresia with Intact Ventricular Septum Treated by Cardiac Catheterization in a Developing Country

Pulmonary Valve Atresia in the Kingdom of Bahrain: Early Outcomes and Genetic Associations

Background: Pulmonary atresia is a congenital heart defect that results from failure in the formation of the pulmonary valve that leads to right ventricular outflow obstruction, preventing the right heart ejection of blood to the lungs. It is also associated with a high incidence of chromosomal anomalies. Methods: A retrospective styesyesudy of all infants diagnosed with pulmonary in Bahrain was undertaken. Pulmonary atresia was classified into pulmonary atresia with intact ventricular septum, pulmonary atresia in Tetralogy of Fallot, and pulmonary atresia in complex cyanotic heart defects. Short-term outcomes, survival, and associated genetics were analyzed. Results: 84 patients were diagnosed. 57 (67.9%) were males and 27 (32.1%) were females (p = 0.204). The median age at diagnosis was 25 days. Patients diagnosed with pulmonary atresia and complex cyanotic heart defects had the highest early survival rate. The early survival rate of patients diagnosed with pulmonary atresia with intact ventricular septum was lowest (p = 0.0179). Twenty-two patients (26.19%) had chromosomal anomalies. The DiGeorge syndrome was found in 18 patients, and 2 with Down Syndrome and other dysmorphisms in 2. 19 (86.36%) with chromosomal anomalies had pulmonary atresia and Tetralogy of Fallot, and 3(13.64%) with pulmonary atresia and complex cyanotic heart defects (p = 0.027). Conclusions: Pulmonary atresia is a rare but serious congenital heart defect. The lowest short-term survival is in those with intact intraventricular septum. There is a high incidence of chromosomal deletion of 22q11 leading to DiGeorge syndrome in those with Tetralogy of Fallot with pulmonary atresia. Early catheterization and surgical techniques are effective palliation for short-term survival.

Left ventricle dysfunction in patients with critical neonatal pulmonary stenosis: echocardiographic predictors. A single-center retrospective study.

The aim of this study is to identify echocardiographic predictors of transient left ventricle dysfunction after pulmonary valve balloon dilatation (PVBD), in neonates with pulmonary valve stenosis (PVS) and atresia with intact septum (PAIVS) at birth. The study includes patients admitted at the Bambino Gesù Children Hospital from January 2012 to January 2017. Clinical, echocardiographic and cardiac catheterization data before and after PVBD were retrospectively analyzed. Twenty-nine infants were included in the study (21 male and eight female). The median age was 5.8 ± 7.1 days. Eight patients developed transient LV dysfunction (three PAIVS and five PVS) and comparing data before and after the procedure, there was no difference in right ventricle geometrical and functional parameters except for evidence of at least moderate pulmonary valve regurgitation after PVBD. Moderate to severe degree pulmonary valve regurgitation was significant associated to LV dysfunction (p < 0.05) in PVS and PAIVS patients.

Impact of liver dysfunction on outcomes in children with Alagille syndrome undergoing congenital heart surgery.

Children with Alagille syndrome often have complex forms of congenital heart defects with the majority having peripheral pulmonary artery stenosis (PPAS) and pulmonary valve atresia (PA) or stenosis (PS). Children with Alagille syndrome also have variable amounts of liver dysfunction. The purpose of this study was to evaluate the impact of liver dysfunction on outcomes in children with Alagille syndrome undergoing congenital heart surgery. This was a retrospective review of 69 patients with Alagille syndrome who underwent congenital heart surgery at our institution. The underlying diagnoses included PPAS (n=29), tetralogy of Fallot with PPAS (n=14), tetralogy with PA (n=3), PA with ventricular septal defect and major aortopulmonary collateral arteries (n=21), and one each with D-transposition and supravalvar aortic stenosis. The median age at surgery was 16 months (range 0-228 months). Procedures performed included PPAS repair (n=43), tetralogy with PA repair (n=3), unifocalization procedures (n=21), and other (n=2). Forty-two (61%) patients had mild or no liver dysfunction, while 26 (38%) had moderate or severe liver dysfunction. Median cardiopulmonary bypass time was 345 minutes (341with liver dysfunction, 345 without liver dysfunction). There were a total of 8 operative (12%) deaths and 3 late (4%) deaths. Six operative and two late deaths occurred in patients with liver dysfunction (combined 30.7%) versus two operative and one late death (combined 7.1%) for patients without liver dysfunction (p < 0.05). These results suggest that liver dysfunction has a profound impact on survival in children with Alagille syndrome undergoing congenital heart surgery.

Ductus Arteriosus Stenting in Neonates with Pulmonary Valve Atresia: Outcomes and Considerations

Background: Patent ductus arteriosus (PDA) stenting was invented particularly for congenital heart diseases with ductal-dependent pulmonary blood flow, and newer techniques are constantly being introduced. Objectives: In this study, we investigate the one-year results of this procedure and describe some of our periprocedural considerations. Methods: The neonates with pulmonary atresia and ventricular septal defect (VSD) who underwent PDA stenting in our center from February 2016 to December 2019 were included in this retrospective study. Spo2 and McGoon ratios were recorded before and a year after stenting and compared to each other. Results: In 26 neonates, PDA stenting was performed; 20 procedures (77%) were successful, and six procedures (23%) were unsuccessful. Two of these unsuccessful cases died during the procedure, and two of them died as a result of neonatal sepsis following the procedure. A total of 18 PDAs (70%) were accessed via the axillary artery, 6 (23%) via the femoral artery, and 2 (7%) via the antegrade inferior vena cava route. The comparison between the results before and one year after stenting revealed the increase of O2 saturation from 53.78 ± 7.35 to 84.33 ± 6.5 (P-value = 0.032) and McGoon ratio from 1.16 ± 0.25 to 1.65 ± 0.34 (P-value = 0.041). Additionally, we discussed some technical considerations of PDA stenting, including the access point, management of pulmonary artery bifurcation stenosis, stent diameter, stenting of long and tortuous PDAs, thrombosis, and anticoagulation. Conclusions: Ductal stenting increases SpO2 and McGoon ratio and could be a less-invasive option for securing pulmonary blood circulation. However, further studies are required to advance PDA stenting techniques for specific anatomical features.

Speckle-Tracking Analysis in Fetuses With Tetralogy of Fallot: Evaluation of Right and Left Ventricular Contractility and Left Ventricular Function.

This study examines fetuses with tetralogy of Fallot (TOF) and evaluates the right (RV) and left (LV) ventricular contractility and LV function using speckle-tracking analysis of the endocardium. The study group consisted of 44 fetuses with TOF, of which 34% had pulmonary valve atresia (N=15) and 59% (N=26) had pulmonary valve stenosis. The RV and LV global fractional area change, longitudinal contractility (longitudinal strain, free wall strain, septal strain, free wall and septal annular fractional shortening, and free wall and septal wall annular plane systolic excursion), and transverse contractility (24-segment fractional shortening) as well as LV functional assessment (stroke volume, cardiac output, and ejection fraction) were measured using speckle-tracking analysis. The z-scores of the measurements were compared to 200 controls. Compared to controls, measurements of LV contractility in fetuses with TOF demonstrated significantly abnormal values for global contractility, longitudinal contractility, and transverse contractility of the mid and apical segments. LV function was abnormal for stroke volume (SV), cardiac output (CO), and ejection fraction (EF). In comparison, RV contractility demonstrated no significant difference between TOF and control z-score values for RV global contractility. Only two RV measurements were found to be abnormal: longitudinal contractility and transverse contractility of the apical segments. Using multiple measurement tools to evaluate global, longitudinal, and transverse contractility, this study identified significant differences between fetuses with TOF and healthy controls, with greater contractility abnormalities seen in the LV than in the RV.

This Looks Exactly Like Something I’ve Never Seen Before … or Does It?

The constellation of semilunar valve atresia, important ipsilateral ventricular hypoplasia, intact ventricular septum, and associated anomalies of the coronary arterial tree is rare but well described. Although it occurs with aortic valve atresia, it is more commonly seen with pulmonary valve atresia and is especially difficult to manage if the coronary arteries are obstructed proximally to such an extent as to cause myocardial ischemia. In such cases, the term right ventricular–dependent coronary circulation (RVDCC) is used.

Next Generation Sequencing in a Case of Early Onset Hydrops: Closing the Loop on the Diagnostic Odyssey!

Background: Non-immune fetal hydrops (NIFH) is an etiologically heterogeneous condition. Cardiac anomalies are one of the common causes of NIFH. Cardiac anomalies can be isolated, multifactorial malformations or have a genetic basis. PLD1 variants have been associated with developmental defects involving the right heart. We present a NIFH with a PLD1 associated right heart malformation. Case report: We describe a spontaneously aborted 14 weeks old NIFH fetus with a rudimentary right ventricle, pulmonary valve atresia and pulmonary artery stenosis found at fetopsy. After a normal microarray, whole exome sequencing revealed a homozygous missense variant c.2023 C > T (p. Arg675Trp) in the PLD1 gene. Conclusion: Detailed fetopsy and genetic evaluation in this NIFH allowed an etiological explanation, further corroborated the association of PLD1 gene variants and developmental right heart defects, and that this defect can be associated with NIHF.

EP262: De novo heterozygous variant in the RAB11B gene presenting with combined cardiac defect and neurodevelopmental disorder: A case report

The RAB11B gene (OMIM: 604198) encodes for a GTP-binding protein within the Rab11 GTPase subfamily which is associated with the regulation of exocytic and endocytic pathways. It also plays an essential role in ciliogenesis and vesicular trafficking. Pathogenic variants in RAB11B were first described in five patients in 2017. Subsequently, an additional patient was diagnosed through the Korean Undiagnosed Diseases Program (KUDP) in 2019. Clinical features shared by these patients were predominantly a neurological phenotype, including global developmental delay, epilepsy, hypotonia and gait disturbances. Ophthalmological, musculoskeletal, dermatological, and urological findings were also reported in some patients. MRI brain abnormalities were present in many of these patients and include decrease in white matter volume, patchy white matter signals, cerebellar hypoplasia, ventriculomegaly, thin corpus callosum and atypical partial rhombencephalosynapsis. Here we describe a 6-year-old male with previously unreported clinical findings of congenital heart defect in this disorder. A 5-year-old term male presented with prenatal complications of fetal congenital heart disease, maternal hypertension and maternal gestational diabetes. Fetal echocardiogram identified a tetralogy of Fallot (TOF) and post-natal echocardiogram confirmed the TOF with pulmonary valve atresia and 2 aorto-pulmonary collateral vessels from the descending aorta. Clinical examination at birth revealed bilateral congenital vertical talus but no other dysmorphic features. Fluorescent in-situ hybridization test for 22q11.2 deletion was negative. Chromosomal microarray analysis revealed a 133kb deletion of uncertain significance on chromosome 5q14.3. A head and renal ultrasound was normal at birth. He was diagnosed with congenital nystagmus and microcoria at 6 months of age with low amplitude on visual evoked potential testing. MRI brain revealed an extremely hypoplastic corpus callosum and brainstem, bilateral optic nerve hypoplasia, marked depletion of white matter and delayed myelination. He requires a G-tube for feeding. He has significant global developmental delays and is non-verbal. A clinical trio exome sequencing revealed a de novo, heterozygous, missense variant of unknown significance in the RAB11B gene (c.64 G>A; p.al22Met). This variant has since been re-classified as a pathogenic variant based on the published case series of 6 other individuals with similar phenotype. Given the fact that RAB11B is highly expressed in brain, cardiac and testicular tissue with various roles in ciliogenesis and vesicular trafficking, this patient’s cardiac defect is likely secondary to the pathogenic variant the RAB11B gene. We present this case of a de novo, heterozygous RAB11B variant presenting with a congenital heart defect in addition to a neurodevelopmental phenotype, thus expanding the phenotypic spectrum of this rare disorder.

PULMONARY HYPERTENSION AS AN INITIAL PRESENTATION OF UNCORRECTED TETRALOGY OF FALLOT IN A 27-YEAR-OLD

TOPIC: Pulmonary Vascular Disease TYPE: Medical Student/Resident Case Reports INTRODUCTION: Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease (CHD) affecting children. It is characterized by ventricular septal defect (VSD), an overriding aorta, pulmonary stenosis or atresia, and right ventricular hypertrophy. Historically, severity of RV outflow obstruction determined the need for surgical intervention and only 3% of patients with unrepaired TOF reached the age of 40. With advances in early surgical repair and excellent surgical outcomes, survival 25 years after TOF repair has reached more than 94% in the United States and TOF is rarely left unrepaired, however, pulmonary arterial hypertension (PAH) continues to be a major complication in both repaired and unrepaired cases. CASE PRESENTATION: Case: A 27-year-old Vietnamese immigrant presented with complaints of hemoptysis, dyspnea, orthopnea, decreased exercise tolerance, and congestion. In the emergency department he was febrile, normotensive, non-tachycardic, cyanotic and hypoxic with an oxygen saturation of 79%. Investigations were significant for abnormal chest X-rays, leukocytosis to 19 and polycythemia to 20. He was treated for community-acquired pneumonia. Computed tomography angiogram of the chest showed the features of TOF with direct arterial communications to both lungs associated with the descending aorta. Echocardiogram showed an ejection fraction of 55%, an overriding aorta, a dilated aortic root (5cm), severely elevated pulmonary artery systolic pressure, VSD with right to left shunt, and tricuspid regurgitation velocity of 4.3m/s suggesting a Right Ventricle systolic pressure of 85 mmHg. He was diagnosed with unrepaired TOF with pulmonary valve atresia and major aortopulmonary collateral arteries (MAPCAs). Right and left heart catheterization showed a mean pulmonary artery pressure of 68 mmHg and pulmonary artery wedge pressure 14. He was diagnosed with PAH and was started on Bosentan therapy. His symptoms and exercise tolerance significantly improved. His follow-up visit saturation was 84%. DISCUSSION: Patients with TOF usually have systemic-pulmonary shunting. This increased flow leads to increased pressure and progressive endothelial dysfunction which results in arterial remodeling/PAH. Early surgical repair in CHD limits the amount of vascular remodeling and development of PAH. However, up to 15% of patients develop PAH even after surgical repair. There is a high mortality if untreated. CONCLUSIONS: In this case of TOF with MAPCAS and Eisenmenger syndrome, the endothelin receptor antagonist Bosentan was used with success. PAH can be the initial presentation of adult TOF. REFERENCE #1: John Willis Hurst, et al. Hurst's the Heart. 14th ed., vol. 2, New York, McGraw-Hill Medical, 2011, pp. 1380–1381. REFERENCE #2: https://onlinelibrary.wiley.com/doi/pdf/10.1002/clc.4960070807 REFERENCE #3: https://jamanetwork.com/journals/jamacardiology/fullarticle/2718499#:~:text=Tetralogy%20of%20Fallot%20%28TOF%29%20is%20the%20most%20common, or%20variation%20in%20population%20or%20health%20care%20systems. DISCLOSURES: No relevant relationships by Moises Cossio, source=Web Response No relevant relationships by Fernando Fuentes, source=Web Response No relevant relationships by Mohammad Nimer, source=Web Response

Outcomes of Ductus Arteriosus Stenting in Neo-nates with Pulmonary Valve Atresia and Ventricu-lar Septal Defect

Outcomes of Ductus Arteriosus Stenting in Neo-nates with Pulmonary Valve Atresia and Ventricu-lar Septal Defect

Computed tomography in tetralogy of Fallot: pre- and postoperative imaging evaluation.

Tetralogy of Fallot (TOF) is the most common cause of cyanotic congenital heart disease (CHD) and the most frequent complex CHD encountered in adulthood. Although children with TOF share four characteristic features (subaortic ventricular septal defect, overriding aorta, right ventricular hypertrophy, pulmonary stenosis), the clinical spectrum and course are in fact greatly heterogeneous. Echocardiography remains the mainstay for diagnosis, presurgical planning and postoperative follow-up. However, with continued technological advances, CT now plays an increasing role in TOF evaluation and management, helping to minimize routine invasive catheter angiography. Preoperatively, CT is uniquely suited to assess associated pulmonary arterial, aortic and coronary anomalies as well as extra-cardiovascular structures and is particularly helpful for delineating complex anatomy in the TOF subtypes of absent pulmonary valve and pulmonary atresia with major aortopulmonary collaterals. Postoperatively, CT is useful for identifying surgical complications and for long-term monitoring including volumetry quantification, especially in children for whom MRI is contraindicated or limited by implanted devices such as pacemakers and stents. In this article, we review key clinical features and considerations in the pre- and postoperative TOF patient and the burgeoning role of CT for facilitating accurate diagnosis and personalized intervention.

Proportion of critical congenital heart defects attributable to unhealthy prepregnancy body mass index among women with live births in Florida, 2005-2016.

Associations between maternal prepregnancy body mass index (BMI) and congenital heart defects have been reported, however, the proportion of critical congenital heart defects (CCHDs) attributable to unhealthy prepregnancy BMI has not been determined. Our objective was to investigate the association between maternal prepregnancy BMI and CCHDs. The Florida Birth Defects Registry was used to identify infants with CCHDs born between 2005-2016. Birth certificate data were used to define the source population and identify perinatal and socio-demographic characteristics. BMI values were categorized as underweight (<18.5), normal weight (18.5-24.9), overweight (25.0-29.9), obese I (30.0-34.9), obese II (35.0-39.9), and obese III (≥40.0). Multi-predictor logistic regression models were used to estimate adjusted odds ratios (aORs) and 99% confidence intervals representing the association between maternal prepregnancy BMI and CCHDs. Adjusted population attributable fractions (PAFs) for the aORs were calculated. We observed a significantly increased risk of "any CCHD" in infants born to women at any level of obesity. Among the 12 CCHDs examined, 5 showed a significantly increased risk among mothers in the two highest obesity levels (II & III). Approximately 8% of all CCHDs may be attributed to suboptimal maternal prepregnancy BMI, with the highest total individual CCHD PAFs for pulmonary valve atresia (21.7%) and total anomalous pulmonary venous return (12.8%). Women with suboptimal prepregnancy BMI are at increased odds of having a child born with a CCHD. We found evidence of a direct dose-response relationship between prepregnancy BMI and odds for CCHD; with variation by CCHD subtype.