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Congenitally corrected transposition of the great arteries: Clues for prenatal diagnosis
Abstract
Congenitally corrected transposition of the great arteries (ccTGA) is an uncommon cardiac defect characterized by the atria connecting with the anatomically discordant ventricles and the ventricles connecting with discordant and transposed great arteries. Parallel vessels are evident in corrected TGA, but as this sign is also present in complete TGA, a heart anomaly requiring major cardiac surgery in the postnatal period, it is important to differentiate between the entities prenatally. Most cases of ccTGA have associated anomalies but isolated forms or those with a mild associated cardiac anomaly are infrequently detected prenatally. We report on three cases detected between 21 and 25 weeks' gestation on screening ultrasound with associated mild findings. One fetus had an isolated ventricular septal defect (VSD) first detected at 34 weeks. The child developed heart block at 4 years of age. The second case was associated with a small VSD, a tiny pulmonary trunk and a persistent right umbilical vein. After birth, mild pulmonary stenosis was found as an additional cardiac finding at 4 months of age. The third fetus had no additional cardiac anomalies prenatally, but after birth a bicuspid aortic valve was detected. The first case needed pacemaker implantation but the other two children required no cardiac surgery. Two of the cases were referred because abnormal vessel anatomy was detected on screening ultrasound. As prenatal detection of TGA is becoming a more frequent occurrence, this paper aims to present clues aiding in the prenatal diagnosis of atrioventricular and ventriculoarterial discordance, especially in its differentiation from complete transposition. These details are crucial for counseling and perinatal management.
... Whereas the prenatal detection of major associated cardiac lesions and the abnormal origin and orientation of the great arteries is often achieved [6,7,10], diagnosing the double discordance might still be challenging. ...
... While the perinatal outcome is mostly favorable [6,8,9,11], in the further postnatal course development of right ventricle dysfunction, TV regurgitation, complete heart block and congestive heart failure is common [12,13]. It leads to a high rate of surgery, but shows a variable course depending on associated anomalies [8,10,13]. ...
... Diagnosing ccTGA in prenatal ultrasound is possible with a good accuracy, especially in specialized centers, although it remains challenging, in particular when associated defects are missing [6,10]. Focusing on the differentiation of the left and right ventricles in echocardiography is recommended, e.g., identifying the morphologic right ventricle in the four-chamber view by a posterior and left position, a prominent moderator band, a more irregular endocardial surface, more apical attachment of the atrioventricular (tricuspid) valve and distal and central attachment of the papillary muscles. ...
Purpose
To analyze anatomic features and associated malformations in 37 prenatally detected cases of congenitally corrected transposition of the great arteries (ccTGA) and to evaluate the prenatal course, neonatal outcome and mid-term follow-up.
Methods
Retrospective analysis of prenatal ultrasound of 37 patients with ccTGA in two tertiary centers between 1999 and 2019. All fetuses received fetal echocardiography and a detailed anomaly scan. Postnatal outcome and follow-up data were retrieved from pediatric reports.
Results
Isolated ccTGA without associated cardiac anomalies was found in 13.5% (5/37), in all other fetuses additional defects such as VSD (73.0%), pulmonary obstruction (35.1%), tricuspid valve anomalies (18.9%), aortic arch anomalies (13.5%), ventricular hypoplasia (5.4%) or atrioventricular block (5.4%) were present. The rate of extracardiac malformations or chromosomal aberrations was low. There were 91.9% (34/37) live births and postnatal survival rates reached 91.2% in a mean follow-up time of 4.98 years. The prenatal diagnosis of ccTGA was confirmed postnatally in all but one documented live birth and the prenatal counselling regarding the expected treatment after birth (uni- versus biventricular repair) was reassured in the majority of cases. The postnatal intervention rate was high, 64.7% (22/34) received surgery, the intervention-free survival was 36.7%, 35.0% and 25.0% at 1 month, 1 year and 10 years, respectively.
Conclusions
ccTGA is a rare heart defect often associated with additional heterogeneous cardiac anomalies that can be diagnosed prenatally. The presented study demonstrates a favorable outcome in most cases but the majority of patients require surgical treatment early in life.
... Day et al. also noted that TR detected antenatally increases mortality within the first year of life [10]. In view of the large numbers in their study, Cohen et al. were able to do statistical analysis and found fetal factors such as pulmonary atresia, any type of tricuspid regurgitation, any type of mitral regurgitation, aortic atresia and any type of fetal heart block to be significantly associated with fetal death or death/transplant by 1 year of age [14]. The patients with pulmonary obstruction did less well in our group supporting Cohen's findings. ...
Congenitally corrected transposition of the great arteries (ccTGA) is a rare malformation with diverse morphology. We assessed features of fetuses with ccTGA and evaluated neonatal and pediatric outcomes. This was a retrospective review of fetuses with ccTGA at Birmingham Women’s and Children’s Hospital born from 2005 to 2019. Of thirty-six fetuses identified, six had unavailable prenatal data, one was postnatally diagnosed with isomerism and 29 fetuses were evaluated. ccTGA without associated cardiac lesions was found in 28% (8/29), ccTGA with significant VSD in 31% (9/29), ccTGA with pulmonary obstruction in 24% (7/29) and ccTGA with complex anomalies in 17% (5/29). Tricuspid regurgitation (TR) was observed in 17% (5/29) and heart block (HB) in 10% (3/29) prenatally. Six, that is 21% underwent genetic testing of which one was abnormal. Five extra-cardiac anomalies were reported prenatally and postnatally. Pregnancy was discontinued in five, of which two had moderate TR. There were thirty-one liveborn. Coarctation of the aorta was found in five postnatally but not suspected prenatally. In one, pulmonary stenosis was underestimated; otherwise, prenatal morphology was confirmed. Cardiac interventions were performed in 77% (24/31) liveborn with 39% (12/31) undergoing neonatal intervention. Overall, 6/31 liveborn died including all three with prenatal heart block and one with TR. Estimated survival for all liveborn at 1, 5 and 10 years was 87% (95% CI 76–100%), 83% (95% CI 72–98%) and 80% (95% CI 66–96%) respectively. Accurate prenatal diagnosis of ccTGA is critical for counseling. Early outcomes are favorable with 77% of liveborn undergoing surgery. Fetuses with prenatal diagnosis of complex associated abnormalities, HB and TR appear to do less well.
... In particular, the morphologic right ventricle may be recognised in the four-chamber view due to its posterior and left position, its prominent moderator band, its more irregular endocardial surface, its more apical attachment of the atrioventricular (tricuspid) valve, and its distal and central attachment of the papillary muscles. 11,13 Approximately 10% of CCTGA patients have isolated presentation, and initially, they often exhibit no symptoms. However, by the time they reach their fourth or fifth decade of life, these individuals may start to have symptoms because of progressive TR, congestive heart failure, heart block, or ventricular arrhythmia. ...
Congenital complete heart block (CCHB) is a rare cardiac disorder in neonates and maternal lupus is the most common cause. More rarely, CCHB can be associated with congenitally corrected transposition of the great arteries. In this case, the neonate was born via emergency caesarean section due to bradycardia. Post-natal electrocardiogram and echocardiography confirmed the diagnosis. A pacemaker was inserted and the baby was kept under follow-up.
... Parallel vessels are evident in CTGA, but this sign is also presented in complete TGA (D-TGA). Because DTGA is a heart anomaly requiring major cardiac surgery in the postnatal period, it is important to differentiate between the entities prenatally [14]. TGA is more commonly associated with D-malposition of great arteries where anterior aorta produces characteristic ''I'' sign in the 3VV in fetal heart imaging [15]. ...
CCTGA, also known as levo- or L-loop transposition (L-TGA), double discordance, or ventricular inversion, is a rare cardiovascular anomaly with inversion of the ventricles and great arteries. In this anomaly, the right atrium communicates with the morpho- logic left ventricle, which gives rise to the pulmonary artery, while the left atrium communicates with the morphologic right ventricle, which gives rise to the aorta. Thus, atrioventricular and ventriculoarterial discordance (double discordance) exist, and although the blood flows in the normal direction, it passes through the wrong ventricular chambers. It is a unique conotruncal anomaly, in which the four-chamber view is abnormal. It may be associated with other heart disorders. In most fetuses, TGA remains undiagnosed before birth. The diagnosis of TGA can be made by care- fully and appropriately evaluating the anatomic locations of cardiac chambers and the connections between the atria, ventricles, and great arteries with high-resolution ultrasound. Patients with isolated CTGA generally present later in life with signs and symptoms related to either arrhythmias or heart failure. TGA is rarely associated with chromosomal abnormality and amniocentesis is usually not undertaken. We report a case of CTGA detected at 18 week’s gestation on screening ultrasound.
... cc-TGA is a rare congenital cardiac anomaly constituting less than 1% of all CHDs [9] and is associated with discordant atrioventricular and ventriculoarterial connections. Ultrasound diagnosis of BSA in early pregnancy has been widely reported, whereas fetal cc-TGA is mostly diagnosed by fetal echocardiography in the second and third trimesters. ...
Body stalk anomaly (BSA) is a relatively rare and severe congenital malformation. Most reported heart anomalies occurring in combination with BSA are ectopic hearts. We herein report a rare case of BSA complicated by complex congenital heart disease prenatally diagnosed in the first trimester by ultrasound and confirmed by autopsy. This case emphasizes that in addition to the typical anomalies, cardiac structural abnormalities are also worthy of attention in cases of BSA.
... CCH is a cardiac malformation which is very difficult to diagnose both prenatally and postnatally (Tab 2) [2][3][4][5]. Development of the heart block, tricuspid regurgitation, right ventricular dysfunction as a systemic chamber and congestive heart failure is possible at every stage of the life of a child. The prognosis depends on the type of associated abnormalities. ...
This paper presents an extremely rare and difficult case report of criss-cross heart (CCH) with a combination of cc-TGA and aortic coarctation of the fetal heart at 33 weeks of gestation. Despite very complicated heart anatomy, the proper perinatal care and early cardiac surgery allowed us to observe normal development of the child without any problems during his first six and ten months of postnatal life. The impossibility to: image proper four-chamber view, obtain parallel tricuspid and mitral valve, visualize symmetrical valve motion and laminar flow from the atrium to the ventricle might be the first clues to diagnose CCH.
... It must be remembered that flap of foramen ovale opens into left atrium, interatrial septum bulges from right to left side and right atrium appears larger. (B) Demonstration of atrioventricular concordance, this remains crucial step and can be achieved by differentiating RV from LV. Important differences which are easy to identify and reproducible are (i) Echogenic moderator band is present in RV (ii) Tricuspid valve insertion into septum has an offset toward apex (iii) Lumen of LV is longer in length than RV and cavity of LV has triangular shape (iv) Irregularity of endocardial surface of RV as compared to LV. 7 Some of these differences are conspicuous in Fig. 1. (C) Demonstration of branching pattern of great vessels. In our experience branching pattern of MPA is more easily demonstrated and especially so in cases of TGA. ...
... However the fetus with ccTGA and mild or no additional intracardiac anomalies may be overlooked by routine ultrasound screening. Distinct features notable on prenatal ultrasound that may improve detection of ccTGA are parallel course of the great arteries in combination with dextrocardia, abnormal insertion of the papillary muscles, and/or an abnormal TV (McEwing & Chaoui, 2004;Paladini et al., 2006;Shima et al., 2009). A retrospective review by Wan et al. found no difference in the number of cardiac interventions, timing of surgery, or survival between a cohort of ccTGA patients diagnosed prenatally (n = 14) and postnatally (n = 26). ...
... Prenatal diagnosis of this lesion is feasible, though relatively few cases have been described due its rarity; those that have been described were in the context mainly of large fetal series of CHD 4 -6 . In addition, the defect may be difficult to detect at routine screening because the atrioventricular discordance may be overlooked if other significant anomalies of the fourchamber view are absent 7 . To the best of our knowledge, this is the first case series addressing directly the diagnosis and natural history of ccTGA in the fetus. ...
To describe the anatomy, associated anomalies and outcome of 30 cases of congenitally corrected transposition of the great arteries (ccTGA) detected prenatally.
This was a retrospective observational study of the 30 cases of ccTGA confirmed at autopsy or postnatal echocardiography seen at one of three referral centers from 1994 to 2003. The following data were considered: gestational age at diagnosis, cardiac anatomy, associated cardiac and extracardiac anomalies and fetoneonatal outcome. All fetuses underwent fetal echocardiography and a detailed anomaly scan, with follow-up scans at 3-4-week intervals until delivery. The diagnosis was confirmed at autopsy or after delivery. Follow-up data were retrieved from the clinical files of the patients.
The mean gestational age at diagnosis was 25.5 weeks. Intracardiac defects associated with the ccTGA included a ventricular septal defect in 21 cases, pulmonary outflow obstruction in 12 cases, an abnormal tricuspid valve in 10 cases, ventricular hypoplasia in five cases and dextro/mesocardia in five cases. The karyotype was normal in all 24 newborns, and unknown in the cases which resulted in termination of pregnancy (n = 5) or intrauterine death (n = 1). There were associated extracardiac anomalies in four cases only. Three of the four cases of atrioventricular block (AV block) developed in the third trimester, while the fourth appeared after birth. There were nine deaths (five terminations, two perinatal deaths and two infant deaths). The remaining 21 (70%) newborns were alive at a median follow-up time of 32 months, 11 of them after various surgical procedures.
Our data suggest that in fetuses with ccTGA the risk of chromosomal and extracardiac anomalies is low, in accordance with postnatal data. The spectrum of associated cardiac lesions is consistent with that reported in the pediatric literature. These data may be of use during prenatal counseling since no figures regarding survival and/or outcome of ccTGA in the fetus have been reported so far.
Objective
To report an extremely rare case of atrioventricular discordance and ventriculoarterial concordance associated with a ventricular septal defect which was diagnosed prenatally.
Case report
By fetal echocardioraphy at 20 weeks' gestation, we diagnosed a rare case of atrioventricular discordance and ventriculoarterial concordance associated with a ventricular septal defect. This is the first case reported from Vietnam prenatally. We present our management of this pregnancy and the baby's neonatal course. This rare anomaly remains a challenge for the baby's early neonatal course before initial neonatal discharge.
Conclusion
A combined multidisciplinary and individualized approach for the optimal management of this complicated pregnancy and further neonatal surgical treatment plans for the baby are recommended.
Objective Congenital corrected transposition of the great arteries (ccTGA) is a rare congenital cardiac anomaly which remains difficult to diagnose prenatally. We aim to investigate the natural history, associated anomalies and the outcome of patients in prenatally diagnosed ccTGA.
Method This was an international multicenter retrospective analysis of fetuses with a diagnosis of ccTGA from 2002 to 2017. We reviewed clinical and echocardiographic databases of seven centers. Anatomic survey and fetal echocardiography were performed according to international guidelines of ISUOG.
Results We considered 69 fetuses with prenatally suspected ccTGA. There was an overall survival rate of 91 % among 54 patients with a confirmed diagnosis. Survival to live birth was 96 % (52/54) and survival on an intention-to-treat basis was 94 % (49/52). The mean gestational age at the time of diagnosis was 25.6 ± 5.9 weeks of gestation. In 7 out of 54 fetuses (13 %), ccTGA was an isolated finding. Dextro/mesocardia was present in 15 cases (27.8 %). Intracardiac anomalies were present in 46/54 cases (85.2 %) with the most frequent anomaly being a ventricular septal defect present in 41 fetuses (75.9 %). Complete heart block was diagnosed in 10 cases (18.5 %). Extracardiac anomalies were observed in 9 out of 54 cases (16.7 %). Prenatal karyotyping of the fetus was available in 30/54 (55.6 %) cases with chromosomal anomalies in 4/30 (13.3 %).
Conclusion ccTGA is a rare cardiac anomaly often accompanied by a variable spectrum of further intracardiac abnormalities. Accurate diagnosis of ccTGA, which can be integrated into parental counselling, is feasible with a favorable short-term outcome for affected neonates.
TGA is a frequent conotruncal anomaly, representing 6% to 8% of all congenital heart diseases (CHDs). It is characterized by a lack of crossover of great arteries. Pulmonary trunk emerges from the left ventricle and aortic root from the right ventricle. Prenatal diagnosis has been demonstrated to improve postnatal outcome. Delivery should be planned in a tertiary referral center with cardiac surgery. The corrective surgery, arterial switch operation, has an overall long-term survival rate of 90%.
Objective: To assess the application value of real time three-dimensional (RT-3D) ultrasonography in diagnosis of fetal corrected transposition of the great arties (cTGA). Methods: Data of 14 fetuses diagnosed as cTGA clinically were reviewed. With 2D ultrasonography, diagnosis views were obtained and then studied using cardiac three-section analytic method. With real time 3D (RT-3D) ultrasonography, volume datasets were acquired at the level of four chamber view, and spatio-temporal image correlation (STIC) was then used to analyze the relationship of the two great arties. Confirmed by infant echocardiography and the autopsy findings, the accuracy of RT-3D and 2D ultrasonography in evaluation of fetal cTGA and complications were compared. Results: The accuracy rate of RT-3D and 2D ultrasonography in diagnosis of fetal cTGA was 92.86% and 71.43% (χ 2=2.19, P=0.14). The procedure time of RT-3D ultrasonography was significantly shorter than that of 2D ultrasonography (t=10.23, P<0.001). Conclusion: RT-3D ultrasonography can evaluate fetal cTGA and its complications more quickly and exactly than conventional 2D ultrasonography.
Congenitally corrected transposition of the great arteries (TGA) is characterized by atrioventricular and ventriculoarterial discordance, due to a ventricular inversion (L bulboventricular loop if visceroatrial situs solitus). Corrected TGA is a rare congenital heart disease and usually associated with other cardiac defects. Neonatal diagnosis is made because of clinical manifestations of associated cardiac anomalies (interventricular communication, pulmonary outflow tract obstruction, anomalies of the tricuspid valve, atrioventricular block). However, patients with isolated corrected TGA are asymptomatic. We report a case of isolated congenitally corrected TGA with neonatal diagnosis. One of the conundrums of this disorder is the question to know if whether the morphologic right ventricule will function as the "systemic" right ventricule in the long term.
Congenitally corrected transposition of great arteries is a rare congenital heart defect. The clue of the abnormality is the inversion of the ventricles which caused abnormal atrioventricular and ventriculoarterial connections. This defect is seldom identified prenatally, much more seldom than the simple transposition of the great arteries, even though, we can observe it, on the image of 4 chambers of the heart. Prenatal diagnosis of this defect, at the 24th week of pregnancy and during the routine ultrasound scan, is being described below. The echocardiographical features of the congenitally corrected transposition of great arteries are being presented, with reference to the differences in the image of the 4 chamber view.
The double discrepancy (DD) is an exceptional cardiopathy, manifested by atrioventricular and ventriculo-arterial discordances. DD is rarely diagnosed in the antenatal period and is often found in adults when cardiac complications occur. We describe six cases of DD, the different forms, their ultrasound semiology, and the assessment of prognosis, correlated with the existence of associated cardiac anomalies.
Congenital heart disease is a leading cause of infant morbidity and mortality from birth defects. Diagnosticians who use ultrasonography to evaluate the fetal heart must be familiar with key factors that can impact the success of their cardiac screening programs. A good understanding of practice guidelines for the "basic" and "extended basic" cardiac examination is essential. Efforts should also be made to standardize diagnostic training of these who perform these examinations in an ongoing manner. The primary goal is for these individuals to accurately identify which fetuses should be referred for a more detailed sonographic evaluation.
The double discrepancy (DD) is an exceptional cardiopathy, manifested by atrioventricular and ventriculo-arterial discordances. DD is rarely diagnosed in the antenatal period and is often found in adults when cardiac complications occur. We describe six cases of DD, the different forms, their ultrasound semiology, and the assessment of prognosis, correlated with the existence of associated cardiac anomalies.
Copyright © 2012 Elsevier Masson SAS. All rights reserved.
Fetal congenitally corrected transposition of the great arteries (ccTGA) is a rare cardiac anomaly and the diagnosis remains a challenge for many sonographers in routine screening programs. We describe a new method of diagnosis by four-dimensional (4D) echocardiography and spatiotemporal image correlation (STIC).
We reviewed retrospectively 11 cases of fetal ccTGA complicated with ventricular septal defect. The four-chamber view (4CV) and the cardiac outflow tract views were obtained by conventional two-dimensional (2D) echocardiography. Atrioventricular connections were observed in the 4CV and ventriculoarterial connections in the cardiac outflow tract views. 4D volume data sets were acquired at the 4CV level and then analyzed by STIC. All volume data sets were displayed using the multiplanar modality, which allows simultaneous display of images in three orthogonal planes. The correlation of the three planes was used to reveal the spatial relationship of the two great arteries. The diagnosis was confirmed by postnatal echocardiography or by autopsy.
By 4D echocardiography and STIC, the origin, course and relationship of the two great arteries could be revealed by moving the reference dot in the three correlated orthogonal planes: in ccTGA, the aorta could be seen to arise from the right ventricle, anterior and to the left of the pulmonary artery, and its course was upward and parallel to the pulmonary artery.
4D echocardiography and STIC technique can assist 2D echocardiography in the diagnosis of ccTGA by revealing the spatial relationship of the transposed great arteries, improving the understanding of the anomaly and facilitating the examination.
Congenitally corrected transposition of the great arteries (ccTGA) is a rare cardiac defect characterized by the atria connecting with anatomically discordant ventricles and the ventricles connecting with discordant and transposed great arteries, which allows hemodynamic compensation. Most patients with ccTGA have associated intracardiac anomalies, which could be a diagnostic clue, whereas isolated forms are infrequently diagnosed during the neonatal period and in utero. We describe a fetus that was diagnosed with ccTGA and without additional cardiac anomalies at 25 weeks of gestation. The parallel course of the great arteries discovered during a routine obstetric scan indicated this rare cardiac anomaly. Further detailed examination of the ventricular morphology helped to confirm the diagnosis. Despite hemodynamic compensation, the long-term prognosis of ccTGA is uncertain because of the possible development of arrhythmias or heart failure later in life. Our findings showed that fetal echocardiography can detect prenatal ccTGA.
The purpose of this review is to highlight publications from the last year that have advanced the use of ultrasound in obstetrics.
Anatomic examination of the fetus in the first trimester has been emphasized because it allows for early diagnosis of many conditions. The prevalence of absent nasal bone, a marker for trisomy 21, in euploid fetuses depends on ethnicity. Nasal bone hypoplasia is another marker for Down syndrome. Studies on genetic screening in the first trimester have involved various serum analytes, adjustments in timing and calculations, use in multiple gestations, and the association of extreme measurements with adverse outcomes. A first-trimester integrated screening approach, which incorporates nuchal translucency, nasal bone, crown-rump length, pregnancy-associated plasma protein-A, and free beta-human chorionic gonadotropin, has the potential to maximize detection rates of Down syndrome and trisomy 18 and minimizes the screen-positive rate. The value of combining first and second-trimester results in sequential, contingent, or integrated screening protocols has been assessed. Isolated mild ventriculomegaly (10-12 mm) may prove to be a normal variant, and the role of 'soft' ultrasound markers in genetic counseling continues to be debated. Anomaly or high-risk status detection in the second trimester has been enhanced by the use of Doppler, 3D/4D ultrasound, and magnetic resonance imaging.
Imaging techniques have been critical in the development of screening methods for Down syndrome or trisomy 18 and for euploid fetuses at high risk for adverse outcomes.
This article reviews the possibilities of three- and four-dimensional (3- and 4D) fetal echocardiography. A volume data set of a fetal heart can be acquired as a static volume, as a real-time 3D volume or as an offline 4D volume cine using spatial and temporal image correlation (STIC) software. STIC is explained and the potentials of this modality are emphasized. The display of a fetal heart volume data set demonstrates the cross-sections of interest, using the multiplanar mode or tomographic multislice imaging, and different volume rendering tools. The latter include: surface, minimum, inversion and glass body modes. This review highlights the potential of acquiring a digital volume data set of a heart cycle for later offline evaluation, either for an offline diagnosis, a second opinion (e.g. via Internet link) or for teaching fetal echocardiography to trainees and sonographers.
Umbilical venous catheterization is frequently used for vascular access during neonatal resuscitation. The differentiation between umbilical artery and vein, specifically during the resuscitation procedure, is clinically neither always easy nor unambiguous. A preterm infant of 35 weeks of gestational age was born after an uneventful course of his mother's pregnancy. Severe postnatal cyanosis led to the placement of presumed arterial and venous umbilical catheters. Chest x-ray was suggestive of the presence of a persistent right umbilical vein (PRUV). Echocardiography showed a double outlet right ventricle with mitral atresia and a levo-atrial cardinal vein draining the left atrium into the azygos vein. The foramen ovale was firmly closed and conventional balloon atrioseptostomy failed. Several attempts of transseptal puncture and subsequent creation of an atrial septal defect were unsuccessful and the infant eventually died. There is an association of PRUV and congenital cardiac malformation. PRUV can be diagnosed prenatally if specifically looked for. The presence of PRUV can be the only clue prenatally alerting to the presence of congenital heart disease. Postnatal diagnosis of PRUV may justify echocardiography and cardiologic assessment even in the absence of clinical cyanosis.
To assess the clinical course of adult patients with corrected transposition of the great arteries without associated anomalies.
All patients with corrected transposition of the great arteries without associated anomalies were reviewed with complete clinical and echocardiographic assessment. The complications were evaluated in each decade.
Tertiary centre with a specific unit dealing with "grown-up" adolescent and adult congenital heart disease, designated as a quaternary centre and a general hospital with a referral centre for "grown-up" congenital heart disease.
18 patients (nine male and nine female) aged 16-61 years followed for 1-30 years (mean 10 years).
There were no deaths. Six patients had a worsening ability index during follow up. Complications were: (a) complete heart block in seven, three of whom required pacemaker insertion; (b) significant left atrioventricular valve regurgitation in 50%, appearing only in the third decade (12%), with increasing frequency thereafter. Infective endocarditis was responsible for increasing left atrioventricular valve regurgitation in only one patient; (c) supraventricular arrhythmia appeared in the fifth decade, and occurred in all patients over the age of 60 years. One patient aged 61 had recurrent sustained ventricular tachycardia; and (d) congestive heart failure developed only after 50 years in 66%. One patient had severe left atrioventricular valve regurgitation; the function of the systemic ventricle was only moderately reduced in the other three. Three of the nine women had seven uneventful pregnancies.
Patients with corrected transposition of the great arteries without associated defects may remain undiagnosed until adult life. Symptoms occur rarely before the fourth and fifth decades, when rhythm disturbance, left atrioventricular valve regurgitation, and moderately impaired systemic ventricular function cause congestive cardiac failure. The role of pacemaker insertion or surgery for left atrioventricular valve regurgitation needs further assessment.
Physiologically corrected transposition of the great arteries (cTGA), defined by discordant atrioventricular and ventriculoarterial connections, is an uncommon congenital cardiac malformation. It rarely exists without associated cardiac anomalies, the most common of which are ventricular septal defect, pulmonary outflow obstruction, tricuspid valve (systemic) deformity, and rhythm disturbances. Conversely, hypoplasia of the systemic ventricle and systemic inflow or outflow obstructions have seldom been reported, although their recognition may significantly influence surgical repair and the patient's prognosis. We report a case of cTGA with complete heart block, moderate hypoplasia of the systemic ventricle, and severe aortic coarctation that was echocardiographically diagnosed in utero at 30 weeks' gestation because of fetal growth retardation and persistent fetal bradycardia. After delivery the patient underwent epimyocardial pacemaker implantation and aortic coarctation repair at 2 weeks of age. Unfortunately, the patient died on the seventh postoperative day because of systemic ventricular hypertrophy. Although it is well known that fetal echocardiography may reliably diagnose uncommon congenital cardiac malformations, to the best of our knowledge, this paper represents the first reported case of antenatal diagnosis of this complex anomaly.
Congenitally corrected transposition of the great arteries is uncommon, accounting for less than 1% of all congenitally malformed hearts [64]. This anomaly is characterized by atrioventricular and ventriculoarterial discordance [1, 4, 21, 34, 41, 59, 72, 95, 96, 97, 98, 113, 117]. Thus the morphologically right atrium connects through a mitral valve with the morphologically left ventricle, and the left atrium via a tricuspid valve with the morphologically right ventricle (Fig. 31.1). In addition, there is transposition of the great arteries with the pulmonary artery supported by the morphologically left ventricle, and the aorta by the morphologically right ventricle. Thus the effects of transposition of the great arteries are potentially correctedby the inversion of the ventricles. But corrected transposition of the great arteries in isolation is uncommon, and a potentially normal circulation is usually compromised by one or more associated intracardiac lesions [53].
It is just over 100 years that the clinical and pathological correlates of “la maladie bleue” were recorded by Etienne-Louis Arthur Fallot [31, 108a] and just 50 years ago that the late Robert E. Gross ligated the first ductus arteriosus in a seven and a half year old girl [46]. While the clinical acumen of the late Dr. Helen Taussig persuaded her that creation of a “ductus” would improve some patients with cyanotic congenital heart disease, the clinical application of the systemic-to-pulmonary shunt was first accomplished on November 29, 1944 and Eileen Saxon, born August 3, 1943, greatly benefited from the surgical bravado of Dr. Alfred Blalock and Mr. Vivien Thomas [12]. But what may seem like bravado is often carefully rehearsed. How fortunate that Blalock when at Vanderbilt was interested in producing an animal model of pulmonary artery hypertension, and that attempts to create this model in the dog was achieved by surgically connecting the proximal end of the divided left subclavian artery to the distal end of the divided left pulmonary artery.
[Extract] Our female baby S was born at 39 + 1 weeks by spontaneous vaginal birth (SVB) to a 21 year old Papua New Guinean mother, in her first pregnancy. Baby developed cardio- respiratory compromise at birth and required intermittent positive pressure ventilation (IPPV) via bag and mask for two (2) minutes before her heart rate increased to >100 beats per minute. Her color, which was initially dusky, pinked up and her perfusion improved prior to her transfer to our special care nursery for ongoing observation for an antenatally diagnosed cardiac anomaly. Her birth weight (BW) was 2.97 kg, head circumference (HC), 34 cm and length was 47.5 cm; all being appropriate for gestational age. Maternal serology was unremarkable, with an O positive blood group. However, her Group B Streptococcus (GBS) status was unknown. Her mother had developed pyrexia during labor, which could have been attributed to a prolonged second stage of labor or to that of a septic nature (Chen et al., 2012). A septic screen was performed and penicillin and gentamicin with antifungals were given until blood cultures were available at 48 h of incubation. These remained negative and the antibiotics were ceased.
Emmanoulides has followed the tradition of the original authors in making the text readable and up-to-date with excellent descriptions of new techniques. Added are the historical perspectives of the development of pediatric cardiology.
In volume 1, the first section, "Basic Concepts," covers morphogenesis and development of cardiac structure, fetal and postnatal circulations, and the epidemiology of congenital cardiovascular malformations. Cardiac anatomy and terminology are considered in the context of noncardiac surgery. In the second section, acquired immunodeficiency syndrome problems are discussed, with obstetrical perspectives. In the third section, congenital cardiovascular defects are discussed.
In volume 2, fourth section, the right ventricular and pulmonary outflow tract abnormalities, mitral valve abnormalities, and abnormalities such as a univentricular heart and cardiac malposition are discussed. The fifth section discusses disorders of cardiac rhythm, including syncope and sudden death. The sixth section concludes with other special problems such as atherosclerosis, pulmonary hypertension, altitude disease
Structural cardiac malformations and rhythm disturbances can be correctly diagnosed in fetal life from about 18 weeks gestation onwards. A simplified form of heart scanning, the four chamber view, can be included in routine obstetric ultrasound examination. This will detect many forms of major defect. The prognosis for some anomalies is such that many parents will choose to interrupt a pregnancy where the diagnosis is made early. Alternatively, delivery in a centre where obstetric and paediatric cardiac facilities are available will optimise the care of mother and neonate.
The associated features of 1-looping of the ventricles (ventricular inversion) with D-transposition of the great vessels and criss-crossing atrioventricular valves are an unusual constellation of cardiac anomalies resulting in corrected transposition physiology. The following case presentation depicts the fetal and postnatal considerations of two-dimensional and color Doppler echocardiography in accurately detailing the complex intracardiac connections associated with this arrangement and also warns of the potential pitfalls in echocardiographic assessment.
The pictures presented here were obtained from a fetus at 20 weeks of gestation. Detailed fetal echocardiography was undertaken because situs inversus had been diagnosed at an earlier obstetric ultrasound examination. Termination of pregnancy was carried out after antenatal diagnosis of complete transposition of the great arteries in the setting of situs inversus. Postmortem examination confirmed the antenatal findings. Figure 1.
Determination of fetal visceral situs (breech presentation). Maternal transverse …
We present an example of corrected transposition with twisted discordant atrioventricular connections in which both fetal and postnatal echocardiograms were obtained. We correlate the fetal echocardiograms with the postnatal echocardiograms, placing emphasis on the echocardiographic clues to the diagnosis which were present in fetal life. The diagnosis should be suspected when the cardiac chambers and great arteries show an unexpected spatial relationship for the given segmental connections, and when the axes of opening of the atrioventricular valves are not parallel.
Congenitally corrected transposition of the great arteries (ccTGA) is a rare disorder with reduced survival that is influenced by the presence of associated anomalies, tricuspid regurgitation (TR), and right ventricular (RV) function. The double switch procedure has been proposed as an aggressive surgical approach in selected patients. We sought to review our experience with conventional repair to determine if a change in surgical strategy was warranted. Clinical records of 121 patients with ccTGA and two adequate-sized ventricles were retrospectively reviewed. Median length of follow-up was 9.3 years; 5-, 10-, and 20-year survival rates were 92%, 91%, and 75%, respectively. Surgery was performed in 86 patients, including conventional biventricular repair in 47 patients. Risk factors for mortality by univariate analysis included age at biventricular repair (p = 0.04), complete atrioventricular (AV) canal defect (p = 0.02), dextrocardia (p = 0.05), moderate or severe TR (p = 0.05), and poor RV function (p = 0.001). By multivariate analysis, complete AV canal defect (p = 0.006) and poor RV function (p = 0.002) remained significant as risk factors for mortality. Risk factors for the development of significant TR included conventional biventricular repair (p = 0.03) and complete AV block (p = 0.04). Risk factors for progressive RV dysfunction included conventional biventricular repair (p = 0.02), complete AV block (p = 0.001), and moderate or severe TR (p
The adjunctive role of Doppler color flow mapping in the evaluation of cardiac structures and function was studied in 440 normal fetuses between 17 and 22 weeks of gestation (median, 20 weeks) and in 73 fetuses with suspected congenital heart disease between 16 and 38 weeks of gestation (median, 28 weeks). Flow through atrioventricular and arterial valves was generally easy to identify and identification was successful in approximately 90% of the normal fetuses. Flow in the pulmonary veins and through the foramen ovale was visualized in approximately 60% of normal cases. In the group with suspected congenital heart disease, Doppler color flow imaging provided additional information on both cardiac structure and function in 34 fetuses, on function alone in 13 fetuses and on structure alone in 20 fetuses. No additional information was collected in six fetuses.
Ventricles, inverted with transposition of the great arteries. 1993. http://www
- Pa Stewart
- Wladimiroff
Stewart PA, Wladimiroff JW. Ventricles, inverted with transposition of the great arteries. 1993. http://www.TheFetus.net [Accessed 7 July 2003].
In Textbook of Fetal Cardiology Greenwich Medical Media Limited Copyright 2003 ISUOG
- L Allan
- Atrioventricular
- L Allan
- L Hornberger
- Sharland
Allan L. Atrioventricular discordance. In Textbook of Fetal Cardiology, Allan L, Hornberger L, Sharland G (eds). Greenwich Medical Media Limited: London, UK, 2000; 183–192. Copyright 2003 ISUOG. Published by John Wiley & Sons, Ltd. Ultrasound Obstet Gynecol 2004; 23: 68–72.
Ventricles, inverted with trans-position of the great arteries
- Pa Stewart
- Wladimiroff
- Jw
Stewart PA, Wladimiroff JW. Ventricles, inverted with trans-position of the great arteries. 1993. http://www.TheFetus.net [Accessed 7 July 2003].
Situs inversus with complete transposi-tion in the fetus
- Carvalho
- Js
- Kyle
- Pm
Carvalho JS, Kyle PM. Situs inversus with complete transposi-tion in the fetus. Circulation 1997; 96: 4432–4433.
Greenwich Medical Media Limited
- L Allan
- Atrioventricular Discordance
Allan L. Atrioventricular discordance. In Textbook of Fetal Cardiology, Allan L, Hornberger L, Sharland G (eds). Greenwich
Medical Media Limited: London, UK, 2000; 183–192.
Neonatal Heart Disease
- Freedom RM
- Benson LN
Congenitally corrected transposition of the great arteries Williams &
- Rm Dyck
Ventricles, inverted with transposition of the great arteries
- P A Stewart
- J W Wladimiroff
Stewart PA, Wladimiroff JW. Ventricles, inverted with transposition of the great arteries. 1993. http://www.TheFetus.net
[Accessed 7 July 2003].
Situs inversus with complete transposition in the fetus
- Carvalho
Carvalho JS, Kyle PM. Situs inversus with complete transposition in the fetus. Circulation 1997; 96: 4432-4433.
Ventricles inverted with transposition of the great arteries
- Stewartpa Wladimiroffjw