Double-chambered right ventricle in a patient with pulmonary atresia and ventricular septal defect.

Double-chambered right ventricle is a rare form of right ventricular outflow tract obstruction caused by anomalous hypertrophy of muscle bundles in right ventricle. Cases most often occur in children and rarely in adults. Most cases (80-90%) are associated with ventricular septal defect. We describe a case of pulmonary atresia and ventricular septal defect with double-chambered right ventricle. The interesting clinical findings, ECG, echocardiography and angiocardiography features are described here.

Natural history of aortic root dilatation and pathologic aortic regurgitation in tetralogy of Fallot and its morphological variants.

OBJECTIVE: We sought to characterize the natural history of aortic root dilatation and aortic regurgitation in tetralogy of Fallot (TOF). METHODS: A single-center review of patients who underwent TOF repair from January 1960 to December 2022 was performed. Morphology was categorized as TOF-pulmonary stenosis or TOF-variant (including TOF-pulmonary atresia and TOF-pulmonary atresia-major aortopulmonary collateral arteries). Echocardiographically determined diameters and derived z scores were measured at the annulus, sinus of Valsalva, and sinotubular junction immediately before TOF repair and throughout follow-up. Linear mixed-effects models assessed trends in dimensions over time. RESULTS: Of 2205 patients who underwent primary repair of TOF at a median age of 4.9 months (interquartile range, 2.3-20.5 months) and survived to discharge, 1608 (72.9%) patients had TOF-pulmonary stenosis and 597 (27.1%) patients had TOF-variant. At a median postoperative follow-up of 14.4 years (interquartile range, 3.3-27.6 years; range, 0.1-62.6 years), 313 (14.2%) patients had mild or greater aortic regurgitation and 34 (1.5%) patients required an aortic valve or root intervention. The overall mean rates of annular, sinus of Valsalva, and sinotubular junction growth were 0.5 ± 0.2, 0.6 ± 0.3, and 0.7 ± 0.5 mm/year, respectively. Root z scores remained stable with time. At baseline, patients with TOF-variant had larger diameters and z scores at the annulus, sinus of Valsalva, and sinotubular junction, compared with patients with TOF-pulmonary stenosis (all P values < .05). Over time, patients with TOF-variant demonstrated relatively greater annular (P = .020), sinus of Valsalva (P < .001), and sinotubular junction (P < .001) dilatation. Patients with ≥75th percentile root growth rates had a higher incidence of mild or greater aortic regurgitation (P < .001), moderate or greater aortic regurgitation (P < .001), and aortic valve repair or replacement (P = .045). CONCLUSIONS: Patients with TOF-variant are at comparatively greater risk of pathologic root dilatation over time, warranting closer longitudinal follow-up.

Comparison of treatment strategies for neonates with tetralogy of Fallot and pulmonary atresia.

OBJECTIVE: Neonates with tetralogy of Fallot and pulmonary atresia (TOF/PA) but no major aorta-pulmonary collaterals are dependent on the arterial duct for pulmonary blood flow and require early intervention, either by primary (PR) or staged repair (SR) with initial palliation (IP) followed by complete repair (CR). The optimal approach has not been established. METHODS: Neonates with TOF/PA who underwent PR or SR were retrospectively reviewed from the Congenital Cardiac Research Collaborative. Outcomes were compared between PR and SR (IP + CR) strategies. Propensity scoring was used to adjust for baseline differences. The primary outcome was mortality. Secondary outcomes included complications, length of stay, cardiopulmonary bypass and anesthesia times, reintervention (RI), and pulmonary artery (PA) growth. RESULTS: Of 282 neonates, 106 underwent PR and 176 underwent SR (IP: 144 surgical, 32 transcatheter). Patients who underwent SR were more likely to have DiGeorge syndrome and greater rates of mechanical ventilation before the initial intervention. Mortality was not significantly different. Duration of mechanical ventilation, inotrope use, and complication rates were similar. Cumulative length of stay, cardiopulmonary bypass, and anesthesia times favored PR (P ≤ .001). Early RI was more common in patients who underwent SR (rate ratio, 1.42; P = .003) but was similar after CR (P = .837). Conduit size at the time of CR was larger with SR. Right PA growth was greater with PR. CONCLUSIONS: In neonates with TOF/PA, SR is more common in greater-risk patients. Accounting for this, SR and PR strategies have similar mortality. Perioperative morbidities, RI, and right PA growth generally favor PR, whereas SR allows for larger initial conduit implantation.

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

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

Long-Term Results after Fallot Repair.

BACKGROUND: The aim of this study was to evaluate the long-term outcome and freedom from pulmonary valve replacement (PVR) after initial repair of tetralogy of Fallot (TOF). PATIENTS AND METHODS: The cohort of 306 patients treated between 1980 and 2017 was divided into anatomical subgroups according to the diagnosis of TOF-pulmonary stenosis, TOF-pulmonary atresia and TOF-double outlet right ventricle. Patients were treated with transannular patch (TAP), valve sparing repair (VSR), or conduits from the right ventricle to the pulmonary arteries (RVPA conduits). RESULTS: There were 21 deaths (6.9%), 14 being hospital deaths (4.6%) after primary correction and four deaths (1.3%) occurred after PVR. One patient died after a non-cardiac operation (0.3%). There were two late deaths (0.7%). During the past 12 years no early mortality has been observed. Ninety-one patients (30.4%) received PVR after a median of 12.1 ± 7.0 years with an early mortality of 4.4% (n = 4) and no late mortality. A significant difference in freedom from reoperation after TAP, VSR, and RVPA-conduits could be identified. Multivariate analysis displayed transannular repair (p = 0.016), primary palliation (p <0.001), the presence of major aortopulmonary collateral arteries (MAPCA; p = 0.023), and pulmonary valve Z-scores < - 4.0 (p = 0.040) as significant risk factors for PVR. CONCLUSION: TOF repair has a beneficial long-term prognosis with low morbidity and mortality. Pulmonary valve Z-scores < - 4.0, transannular repair, and presence of MAPCAs are associated with earlier PVR. Non-VSRs and TOF-pulmonary atresia lead to earlier reoperation but have no negative impact on survival.

Major aortopulmonary collateral arteries in association with atrioventricular septal defect with balanced ventricles and trisomy 21.

A major aortopulmonary collateral artery is a rare and easily missed diagnosis that is usually associated with Tetralogy of Fallot or pulmonary atresia. We present two cases of major aortopulmonary collaterals associated with trisomy 21 and atrioventricular septal defect with balanced ventricles in which the diagnosis went undetected until after initial cardiac repair.

Congenitally corrected transposition with absent pulmonary valve: Hitherto unreported association.

Absent pulmonary valve has usually been described in association with tetralogy of Fallot. Present case highlights its association with congenitally corrected transposition which has not been reported so far in literature.

Fetal Tricuspid Valve Agenesis/Atresia: Testing Predictions of the Embryonic Etiology.

Tricuspid valve agenesis/atresia (TVA) is a congenital cardiac malformation where the tricuspid valve is not formed. It is hypothesized that TVA results from a failure of the normal rightward expansion of the atrioventricular canal (AVC). We tested predictions of this hypothesis by morphometric analyses of the AVC in fetal hearts. We used high-resolution MRI and ultrasonography on a post-mortem fetal heart with TVA and with tricuspid valve stenosis (TVS) to validate the position of measurement landmarks that were to be applied to clinical echocardiograms. This revealed a much deeper right atrioventricular sulcus in TVA than in TVS. Subsequently, serial echocardiograms of in utero fetuses between 12 and 38 weeks of gestation were included (n = 23 TVA, n = 16 TVS, and n = 74 controls) to establish changes in AVC width and ventricular dimensions over time. Ventricular length and width and estimated fetal weight all increased significantly with age, irrespective of diagnosis. Heart rate did not differ between groups. However, in the second trimester, in TVA, the ratio of AVC to ventricular width was significantly lower compared to TVS and controls. This finding supports the hypothesis that TVA is due to a failed rightward expansion of the AVC. Notably, we found in the third trimester that the AVC to ventricular width normalized in TVA fetuses as their mitral valve area was greater than in controls. Hence, TVA associates with a quantifiable under-development of the AVC. This under-development is obscured in the third trimester, likely because of adaptational growth that allows for increased stroke volume of the left ventricle.

Possible Association of Pulmonary Atresia with In-Utero Coxsackievirus B Exposure.

Gestational viral infection has been associated with congenital heart disease (CHD). Few studies, however, have studied the potential role of gestational Coxsackievirus B (CVB) exposure in the pathogenesis of CHD. We prospectively enrolled women with pregnancies affected by CHD to explore possible associations with in utero CVB exposure. Serum samples were obtained from 122 women referred for fetal echocardiography between 2006 and 2018. We quantified CVB IgG and IgM levels, with titers ≥ 15.0 U/mL considered positive and measured neutralizing antibodies for three CVB serotypes: CVB1, CVB3, and CVB4. Using data from the national enterovirus surveillance system, we compared the annual exposure rates for each serotype in our cohort to infections reported across the United States. 98 pregnancies with no genetic defects were included. Overall, 29.6% (29/98) had positive IgG and 4.1% (4/98) of women had positive CVB IgM titers. To explore first-trimester CVB exposure, we focused exclusively on the 26 women with positive IgG and negative IgM titers. 61.5% (16/26) had neutralizing antibodies against a single serotype and 38.5% (10/26) against multiple CVB serotypes. CVB4 neutralizing antibodies were the most common (65.4%, 17/26), followed by CVB3 (53.9%, 14/26) and CVB1 (30.8%, 8/26). Among these, 30.8% of babies presented pulmonary valve anomalies: 19.2% (5/26) pulmonary atresia, and 11.5% (3/26) pulmonary stenosis. 23.1% (6/26) of babies had coronary sinusoids. CVB exposure in our cohort mirrored that of reported infections in the United States. Our results suggest a possible association between gestational CVB exposure and specific CHD, particularly pulmonary valve anomalies and coronary sinusoids.

Coronary artery-pulmonary artery fistula in pulmonary atresia with ventricular septal defect: report of two surgical cases.

Pulmonary atresia with ventricular septal defect is a complex congenital cardiac anomaly. The blood is supplied to the lungs through a patent ductus arteriosus, a major aortopulmonary collateral artery, or in very rare cases from a coronary artery-pulmonary artery fistula. We present two cases with coronary artery-pulmonary artery fistula which underwent surgical intervention. In our first patient, the main pulmonary artery was supplied from the left main coronary artery. In the second patient, the right pulmonary artery originated from the left main coronary artery and continued to the right lung posteriorly to the aorta, while the left pulmonary artery originated from the patent ductus arteriosus. The difference in our cases is that the coronary artery pulmonary artery fistulas behave like major aortopulmonary collateral arteries originating from the coronary arteries. These fistulas were the main source of pulmonary blood flow.

Patent ductus arteriosus stenting: ductal dissection and spasm in pulmonary atresia with intact ventricular septum.

Ductal dissection is rarely mentioned but intractable complication of ductal stenting. We demonstrate the dissection image under fluoroscopy and the use of a relatively large stent as an applicable treatment.

Stent implantation of an unusual morphology patent ductus arteriosus via Glidesheath slender.

The procedure of stenting the patent ductus arteriosus (PDA) is a palliative procedure applied as an alternative to surgery in newborns with ductus-dependent pulmonary circulation. However, it is still a very challenging method in patients with aortic arch anomalies. We describe our experience with a newborn with right atrial isomerism and dextrocardia, complete atrioventricular septal defect, aortic outlet right ventricle with pulmonary atresia, right aortic arch, and a PDA from the left innominate artery. Because the PDA was long and tortuous, we preferred placing three short stents instead of a single long stent. The procedure applied the femoral artery approach with a Glidesheath Slender to decrease arterial injuries. PDA stenting in challenging morphologies can be performed successfully using multiple short stents and via Glidesheath Slenders.

Pulmonary ductal coarctation: An entity associated with congenital heart defects involving the right ventricle outflow tract.

We present a case of a prematurely born 2-month-old girl with a double outlet right ventricle with pulmonary atresia and a left pulmonary artery coarctation arising after ductal closure. The case highlights the importance of knowledge and identification of such an anomaly in patients with congenital heart malformations with severe pulmonary stenosis to atresia.

[Stent ductal implant by axillary via in a newborn with ductal dependent pulmonary blood flow]. / Implante de stent ductal por vía axilar en neonato con cardiopatía congénita con flujo pulmonar dependiente del conducto arterioso.

INTRODUCTION: Ductus arteriosus stenting is a palliative alternative for neonates with ductal-dependent pulmonary flow. OBJECTIVE: To present an alternative of arterial access for percutaneous coronary intervention in neonates. CLINICAL CASE: A term neonate with low weight diagnosed with pulmonary atresia with intact ventricular septum and severe hypoplasia of the tricuspid valve with dependent coronary circu lation. Due to the surgical risk and femoral artery damage and the anatomy of the ductus arteriosus, a left axillary arterial puncture was decided where a 3.5-millimeter coronary stent was successfully placed. The patient developed an axillary spasm that resolved spontaneously. CONCLUSION: Alternati ve arterial access other than the femoral artery route is an option for neonates with high surgical risk and low birth weight.