Importance of Absent Ductus Arteriosus in Tetralogy of Fallot with Absent Pulmonary Valve Syndrome

Tetralogy of Fallot without pulmonary valve syndrome is almost always associated with an absent ductus arteriosus. Patients with right aortic arch and retroesophageal left subclavian artery have a vascular ring if the left ductus arteriosus or its remnant and the Kommerell diverticulum are present. We report the cases of 2 infants in whom the role of an absent ductus arteriosus or its remnant is noteworthy. Both patients had a combination of tetralogy of Fallot with absent pulmonary valve syndrome and right aortic arch with retroesophageal left subclavian artery without a vascular ring. The absence of the ductus arteriosus has a role in the pathogenesis of tetralogy of Fallot with absent pulmonary valve syndrome. The absence of a ductus arteriosus in the right aortic arch with retroesophageal left subclavian artery precludes a vascular ring.     

Relation or Influence of RVOTO in the Inflammatory Response to Reoxygenation in Patients with Tetralogy of Fallot

Background: This study evaluated differential inflammatory response to cardiopulmonary bypass reoxygenation in tetralogy of Fallot repair. Methods: We performed a retrospective study at a cardiovascular center from 2012 to 2018, including 500 patients aged 1 week–18 years who received complete repair of tetralogy of Fallot. Patients were grouped according to tertiles of preoperative RVOT gradient on echocardiography into mild, moderate, and severe stenosis. We measured the highest perfusate oxygenation (PpO2) during aortic occlusion as independent variable. Primary outcome was systemic inflammatory response syndrome (SIRS) within 7 days postoperatively or the time of death or discharge. Results: Overall, rate of SIRS was 24.2% without significant differences among three groups (P > 0.05). Older age, male, and smaller indexed left ventricular end-diastolic volume is independent risk factor of SIRS. There were significant interactions between RVOT stenosis and PpO2 on SIRS (P interaction = 0.011): higher PpO2 was associated with a greater SIRS risk among combined moderate and severe stenotic children (OR 1.463 95%CI [1.080, 1.981] per-SD increase, P = 0.014) but not among mild stenotic children (OR 0.900 [0.608, 1.333] per-SD increase; P = 0.600), independent of covariates. Conclusion: The association of PpO2 with SIRS was modified by RVOT obstruction severity in tetralogy of Fallot repair. (Clinical Trials gov: NCT03568357)     

婴儿期不同月龄段对法洛四联症根治术手术效果的影响

目的评价手术年龄对婴儿法洛四联症（tetralogy of Fallot,TOF）早期根治术的影响。方法回顾性分析2008年1月至2010年3月在广州市妇女儿童医疗中心住院。43例行手术治疗的小于12个月的TOF患儿的临床资料。根据月龄分为两组：A组19例,年龄（3．2±1．4）个月;B组24例,年龄（7．7±1．9）个月。比较两组手术方式、术后并发症、各项观察指标及随访结果。结果两组均没有手术死亡患儿;两组术后并发症比较,差异无统计学意义（P〉0．05）。A组术后呼吸机通气时间[（59．3±47．1）h眠（26．3±23．8）h,P〈0．05]和重症监护时间[（109．8±60．8）h眠（70．5±41．6）h,P〈0．05]比B组更长,差异有统计学意义。两组体外循环时间、主动脉阻断时间、强心药指数、住院时间比较,差异均无统计学意义（P〉O．05）。全组患儿随访（12．5±3．5）个月,无晚期死亡,均存在不同程度肺动脉瓣反流,无残余右心室流出道梗阻,2例残余室间隔缺损,但无需再次手术。结论婴儿期不同年龄段对TOF根治术的手术效果无明显影响。     

Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia-ventricular septal defect

Objective—To compare the morphology of the pulmonary vessels in tetralogy of Fallot or pulmonary atresia-ventricular septal defect (PA-VSD) with (del22q) and without 22q11 deletion (non-del22q).
Patients—94 consecutive infants (54 with tetralogy of Fallot, 40 with PA-VSD) were studied using ultrasound and catheterisation.
Molecular investigations—Identification of the 22q deletion was performed either by fluorescent in situ hybridisation or polymerisation chain reaction genotyping.
Results—25 patients were del22q (16/40 (40%) PA-VSD v 9/54 (17%) tetralogy of Fallot; p < 0.02). Major aortopulmonary collateral arteries was more common in patients with PA-VSD-del22q (p < 0.03). Such collaterals were identified in 13 patients: 10 del22q and three non-del22q (p < 0.001). The size of the right and left pulmonary arteries expressed as a standard deviation (SD) difference of the normal range was −4.2 (quartiles −5.3 and −2.9) for PA-VSD del22q, and −2.6 (−3.1 and −1.8) for PA-VSD non-del22q (p = 0.02). The mean (SD) difference between the measured and theoretical Nakata index was −373 (94) for PA-VSD del22q v −245 (93) in PA-VSD non-del22q (p = 0.0002). In tetralogy of Fallot patients with and without del22q, the size of the pulmonary arteries was similar (p = 0.6).
Conclusions—A "specific" phenotype could be defined in patients with deletion: PA-VSD, major aortopulmonary collateral arteries with complex loop morphology, and small central pulmonary arteries. Differences in the morphology of the pulmonary vessels may indicate a different timing of the faulty developmental pathway in patients with and without 22q11 deletion.

Keywords: 22q deletion;  tetralogy of Fallot;  congenital heart disease     

Appropriate Heart Rate in a Patient with Repaired Tetralogy of Fallot

Appropriate heart rate in a failing pulmonary ventricle remains unknown, particularly in congenital heart disease with unique hemodynamics. A 71-year-old male with repaired tetralogy of Fallot and a pacemaker for a sinus node dysfunction suffered from heart failure symptoms with preserved left ventricular function. Simply changing the pacemaker’s lower rate from 60 to 75 bpm, New York Heart Association classification improved from III to II, and hemodynamic parameters drastically improved. We regarded this case as informative. Appropriate heart rate could be higher in congenital patients with failing right and non-failing left ventricles than in adults with malfunctioning LV.     

Prenatal Diagnosis and Hemodynamics in Tetralogy of Fallot, Absent Pulmonary Valve with Endocardial Fibroelastosis, and Hydrops Fetalis

Tetralogy of fallot with absent pulmonary valve is rare. We report the antenatal diagnosis of this condition in early mid-semester. In this unusual case, the patient presented with hydrops fetalis. The pathophysiology is discussed. (ECHOCARDIOGRAPHY, Volume 10, November 1993)     

200例婴幼儿法乐四联症体外循环经验

目的：总结深低温低流量灌注结合中深度血液稀释的体外循环方法在２００例婴幼儿法乐四联症的临床应用效果。方法：鼻咽温降至１７～２０℃（平均１８．８９±２．５６℃），动脉灌注流量２０～５０ｍｌ·ｋｇ－１／ｍｉｎ（平均３７．６±１３．０ｍｌ·ｋｇ－１／ｍｉｎ），稀释后血红蛋白４４～１１０ｇ／Ｌ（平均６８．７±１２．６ｇ／Ｌ）。结果：采用此种体外循环方法，术后肺部并发症明显降低，术后早期死亡率由１０．２％降至３．５％。结论：此种体外循环方法，适用于婴幼儿紫绀型心血管病手术，术后并发症少，临床效果满意，可在临床推广。     

Pseudopulmonary artery sling in a 22q11 deletion newborn with tetralogy of Fallot and isolated left subclavian artery

We report an interest and mystifying cardiovascular imaging in a 22q11 deletion neonate with rare congenital heart defects, including anomalous origin of the left pulmonary artery arising from the right pulmonary artery and in front of the trachea, called pseudo-pulmonary artery sling, combined with isolated left subclavian artery confirmed by multidetector row computed tomography.     

Hepatocellular Carcinoma in a Patient with Tetralogy of Fallot: A Case Report and Literature Review

We herein report a 34-year-old woman born with tetralogy of Fallot who had undergone 5 cardiac repair procedures. She developed liver nodules with congestive cirrhosis secondary to severe mitral regurgitation and an atrial septal defect. A percutaneous liver biopsy showed hepatocellular carcinoma with liver fibrosis, which was treated using transarterial chemoembolization.     

Echocardiography as a Simple Initial Tool to Assess Right Ventricular Dimensions in Patients with Repaired Tetralogy of Fallot before Undergoing Pulmonary Valve Replacement: Comparison with Cardiovascular Magnetic Resonance Imaging

Objective: Accurate assessment of the right ventricle (RV) is essential in patients with repaired tetralogy of Fallot (TOF). We proposed a simple echocardiographic method to assess the RV dimensions and evaluated the relationship between linear echocardiographic measures of the RV and RV volumes obtained by cardiovascular magnetic resonance imaging (CMR). Methods: A total of 45 patients (27.4 ± 11.2 years; 40% male) with repaired TOF underwent CMR and echocardiography. Using echocardiography, RV dimensions were assessed from the parasternal short‐axis view using the longest RV internal diameter perpendicular to the mid‐interventricular septum. Significant RV dilatation was defined as an RV end‐diastolic volume index >160 mL/m² on CMR. Results: There were significant correlations between RV dimensions determined by echocardiography and the pulmonary regurgitation fraction, RV size, and function determined by CMR. The cutoff values of echocardiographic RV outflow tract (RVOT), end‐systolic and end‐diastolic dimension indices, and the combination of RVOT and end‐diastolic dimension indices to determine significant RV dilatation were 19.0, 19.4, 24.5, and 45.2 mm/m², respectively. The positive and negative predictive values for significant RV dilatation were 89.7% and 68.8% with RVOT diameter index ≥19.0 mm/m², 85.0% and 52.4% with RV end‐systolic dimension index ≥19.4 mm/m², 87.5% and 64.7% with RV end‐diastolic dimension index ≥24.5 mm/m², and 92.3% and 80.0% with the combination of RVOT and end‐diastolic dimension indices ≥45.2 mm/m², respectively. Conclusion: Echocardiography can be used to assess RV size in patients with repaired TOF with acceptable correlations with CMR as the reference standard.     

Acute respiratory distress syndrome due to cyanotic spell in an infant with tetralogy of Fallot

Acute respiratory distress syndrome (ARDS) is characterized by fulminant respiratory failure due to noncardiac pulmonary edema. This can be triggered by a heterogeneous group of diseases. We report an unusual case of an infant who developed severe ARDS in association with a severe cyanotic attack due to tetralogy of Fallot.     

Chronotropic Response and Pulmonary Function are Associated with Exercise Performance in Children and Adolescents with Repaired Tetralogy of Fallot Independent of Cardiac Function

Objective: The determinants of exercise capacity in repaired tetralogy of Fallot (rTOF) are multifactorial and remain incompletely understood. This study sought to evaluate the association of chronotropic response with exercise parameters and investigate the determinants of heart rate reserve (HRR) in a cohort of children and adolescents with rTOF. Design: We retrospectively analyzed patients with rTOF, age 8–18 years, who underwent cardiac magnetic resonance (CMR) and cardiopulmonary exercise test (CPET) for research purposes. Linear regression models were performed to test associations among clinical, CMR and CPET parameters. Outcomes included percent-predicted maximum VO₂ (%mVO₂) and HRR. Results: A total of 148 patients were included (mean age 12.3 ± 3.1 years). The majority of patients had TOF with pulmonary stenosis (80%) and underwent transannular patch TOF repair (78%). Median age at surgical repair was 4.2 months (IQR 1.2, 8.4). There was preserved RV ejection fraction (60.4 ± 8.3%) and moderate pulmonary insufficiency (regurgitant fraction 35.2 ± 16.6 %). On CPET, %mVO₂ was overall diminished (76.5 ± 17.9 %), and % predicted forced vital capacity (FVC) was diminished on spirometry. HRR, FVC and ability to reach maximum effort were independently associated with greater %mVO₂. FVC, net forward flow in the main pulmonary artery/m² , and reaching maximum effort were associated with greater HRR, independently of RV volume, degree of PI and RV ejection fraction. Conclusions: In patients with rTOF, HRR and pulmonary function (FVC) are more important contributors to exercise performance than right ventricular function. Interventions to improve chronotropic health and pulmonary function should be explored.     

Diagnosis of Tetralogy of Fallot and Its Variants in the Late First and Early Second Trimester: Details of Initial Assessment and Comparison with Later Fetal Diagnosis

Objective: We sought to evaluate the completeness of echocardiographic diagnosis of fetal tetralogy of Fallot (fTOF) at 12–17 weeks gestation, and compare assessment and clinical outcomes to diagnoses made at >17 weeks gestation. Methods: We identified all fTOF diagnoses made in our experience from 2003 to 2008. Referral indication, anatomic detail by echocardiography and pregnancy outcomes were compared between fetuses diagnosed at ≤17 weeks (Group I) and >17 weeks gestation (Group II). A 10‐point scoring tool was applied retrospectively to the echocardiograms at initial diagnosis (1 point each was ascribed to visualization of right ventricular outflow obstruction, pulmonary valve, pulmonary arteries including dimensions, pulmonary arterial flow, systemic and pulmonary venous anatomy, atrioventricular valves, ductus arteriosus, ductus flow, aortic arch morphology, sidedness and flow). Results: There were 10 pregnancies in Group I (12–17 weeks) and 25 in Group II (mean gestation at diagnosis 23.5 ± 5.7). The most common reason for referral was extracardiac pathology in Group I (80%) and suspected fetal heart disease on obstetric ultrasound in Group II (64%). Transabdominal imaging was adequate in about half of Group I studies. Mean anatomic diagnosis score in Group I was 6.1(range 2.5–9) and Group II was 8.4 (range 6.5–10). Elective pregnancy termination occurred in 80% in Group I and 33% in Group II. Conclusions: fTOF can be diagnosed in first and early second trimesters with detailed anatomic assessment possible in most. Referral indication and pregnancy outcome differ considerably between early and later prenatal diagnosis of fTOF.     

The Significance of P Wave Duration and P Wave Dispersion for Risk Assessment of Atrial Tachyarrhythmias in Patients with Corrected Tetralogy of Fallot

Background: The aim of the present study was to determine the potential role of P wave duration and P wave dispersion for risk assessment of atrial tachyarrhythmias in patients with corrected tetralogy of Fallot (ToF). Methods: The maximum P wave duration, minimum P wave duration, and the P wave dispersion from the 12‐lead surface electrocardiogram of the patients and controls were measured. Electrophysiological study was performed only in the patient group. Results: The study group consisted of 25 patients with corrected ToF with a mean age of 16.4 ± 4.25 years and 25 age‐matched healthy control subjects. Patients underwent repair at a mean age of 4.6 ± 3.41 years (range: 1–19), and the mean duration of follow‐up of 11.8 ± 1.7 years (range: 9–15) after surgery. On electrophysiological study sinus node dysfunction was detected in 3 patients (12%), atrial tachyarrythmias—atrial flutter or fibrillation—in 5 patients (20%), both sinus node dysfunction and atrial flutter in 1 patient (4%), and AV conduction delay in 1 patient (4%). P wave dispersion is significantly higher in patients with atrial tachyarrhythmia inducible by electrophysiological study than in other patients (P < 0.05). A P wave dispersion value of >35 ms has a high predictive accuracy (sensitivity = 83% and specificity = 89%) for inducible atrial tachyarrhythmia in patients with corrected tetralogy of Fallot. Conclusion: P wave dispersion is an easily measured electrocardiographic marker with a good sensitivity and specificity for predicting atrial arrhythmias in patients after correction of ToF.     

Abnormal pulmonary artery branching in tetralogy of Fallot with "absent" pulmonary valve

Microangiographic postmortem study in a case of tetralogy of Fallot with so-called absent pulmonary valve disclosed an abnormal branching pattern of the intrapulmonary arteries, but failed to detect any compression of intrapulmonary bronchi as a consequence of the distorted segmental arteries. The case also featured the absence of the ductus arteriosus, which should be considered a basic associated anomaly in the development of this malformative complex.     

经右心房-肺动脉行法洛四联症一期根治术疗效分析及手术技术体会

目的 探讨经右心房肺动脉行法洛四联症一期根治术的疗效.方法 2006年6月至2010年2月,我院共采用经右心房/肺动脉（RA/PA）行法洛四联症一期根治术16例,有随访记录的14例,为右心室/肺动脉组（简称RA/PA组）;我院有术后随访记录的法洛四联症患者中,随机选取同时期采用传统手术治疗的3岁以下患者27例为传统组.结果 ①术后呼吸机辅助呼吸时间及血管活性药物应用时间,RA/PA组明显低于常规组;②术后右心功能RA/PA组较同龄人明显升高.结论 经肺动脉右心房行法洛四联症一期根治术可以缩短术后治疗时间,远期右心功能明显改善.