Monitoring the Patient with Transposition of the Great Arteries: Arterial Switch Versus Atrial Switch

Sufficient time has passed that adult congenital heart disease (ACHD) specialists now frequently encounter survivors born with complete transposition of the great arteries and palliated with an atrial or arterial switch procedure. To ensure the ongoing health of these patients, it is of paramount importance that their surgeries are understood and that physicians are aware of and remain vigilant for potential late complications. Adult survivors should be assessed annually in a regional ACHD center. Clinical assessment, electrocardiogram, and multimodality imaging are the mainstay of routine monitoring. Doppler echocardiography is the first-line imaging modality; other diagnostic tests are tailored to seek specific long-term complications. Clinicians, specialists in cardiovascular imaging, nurses and others involved in the delivery of care need special training and expertise. Care for these complex patients is best provided by multidisciplinary teams located in regional ACHD centers with access to adequate human and structural resources.     

Pediatric Cardiac Care Consortium: An Instrument for Evidence-Based Clinical Decision Support

Pediatric Cardiac Care Consortium is a registry of cardiac catheterizations, surgical operations, and autopsies performed for infants, children, and adults with congenital heart disease. Four examples of use of PCCC data to evaluate variability in morphology, management, and outcomes for the procedures are described. Consideration is given to the following clinical problems: (1) the experience with surgical heart block in operative closure of perimembranous VSD, (2) the transition away from atrial baffle operations to the arterial switch operation for simple transposition of the great arteries, (3) the experience of planned 3 stage palliation of hypoplastic left heart syndrome, and (4) the identification of a high risk combination of cardiovascular anomalies in Williams syndrome. Analysis of registry outcomes allows ongoing quality improvement at a cardiac center to consider not only its own experience but that of the overall group. The PCCC data can be used to personalize management of rare congenital cardiac anomalies and combinations of anomalies. The PCCC registry allows longitudinal consideration of issues such as staged repairs and incidence of unplanned reoperation. In future years, the PCCC can facilitate investigations into the etiology of congenital heart disease.     

Transposition of the great arteries-a phenotype associated with 16p11.2 duplications?

Genetic analyses of patients with transposition of the great arteries have identified rare copy number variations,suggesting that they may be significant to the aetiology of the disease.This paper reports the identification of a 16 p11.2 microduplication,a variation that has yet to be reported in association with transposition of the great arteries.The 16 p11.2 microduplication is associated with autism spectrum disorder and developmental delay,but with highly variable phenotypic effects.Autism and attention deficit disorders are observed more frequently in children with congenital heart disease than in the general population.Neonatal surgery is proposed as a risk factor,but as yet unidentified genetic abnormalities should also be taken into account.Thus,congenital heart abnormalities may constitute a part of the phenotypic spectrum associated with duplications at 16 p11.2.We suggest chromosomal microarray be considered part of the diagnostic work-up in patients with transposition of the great arteries.     

Outcome of pregnancy after the mustard operation for transposition of the great arteries with intact ventricular septum

Objectives. This study examined the outcome of pregnancy in patients with transposition of the great arteries and an intact ventricular septum after a Mustard operation.Background. Before the introduction of surgical treatment, most children with transposition of the great arteries died in early infancy. A number of these patients have now reached their reproductive years. There is little information about the effect of pregnancy on cardiovascular status, particularly the ability of the right ventricle to adjust to the hemodynamic changes of pregnancy. The outcome for the offspring and their risk of congenital heart disease are also unknown.Methods. Twenty-three female late survivors after the Mustard operation >15 years of age were reviewed in relation to the occurrence of pregnancy and its outcome. Serial echocardiographic estimates of right ventricular volume during pregnancy were made in three local patients.Results. Nine women had 15 pregnancies. They were asymptomatic before pregnancy and remained free from cardiac symptoms during each pregnancy. Right ventricular volume in the three patients studied increased during pregnancy but returned to normal at 8 to 11 weeks postpartum. There were 12 live births, 2 spontaneous abortions and 1 intrauterine death. None of the liveborn infants had evidence of congenital heart disease.Conclusions. In this small group of women with good quality late survival after a Mustard operation, pregnancy was well tolerated. We suspect that the incidence of congenital heart disease in infants of mothers with transposition of the great arteries will be at the lower end of the range for mothers with different types of congenital heart disease, but further data will be needed to confirm this.     

Successful pregnancies after transvenous cardiac resynchronization therapy in a woman with congenitally corrected transposition of the great arteries

Congenitally corrected transposition of the great arteries is a rare heart defect that can be associated with systemic ventricular dysfunction and conduction disturbances. The use of cardiac resynchronization therapy in patients with congenital heart disease is not fully established, and achievement of successful pregnancies after implantation of transvenous, biventricular system has never been described, and which resulted in a significant clinical improvement.We describe a 33-year-old female with congenitally corrected transposition of the great arteries, who achieved six pregnancies and successful vaginal deliveries. The two last pregnancies were achieved after cardiac resynchronization therapy for systemic ventricular dysfunction and complete heart block. A congenital cardiac disease has been identified in only one offspring.     

Ressincronização cardíaca em doente com transposição congenitamente corrigida das grandes artérias

Congenitally corrected transposition of the great arteries is a rare heart defect that can be associated with systemic ventricular dysfunction and conduction disturbances.The use of cardiac resynchronization therapy in patients with congenital heart disease is not fully established.The authors report a case of cardiac resynchronization therapy in a 31‐year‐old woman with a history of congenitally corrected transposition of the great arteries and heart failure, who had undergone two heart surgeries and had a DDDR pacemaker implanted.To our knowledge this is the first case reported in Portugal of cardiac resynchronization therapy by transvenous access in a patient with congenitally corrected transposition of the great arteries.     

Optimized Three-Dimensional Cardiovascular Magnetic Resonance Whole Heart Imaging Utilizing Non-Selective Excitation and Compressed Sensing in Children and Adults with Congenital Heart Disease

Background: In congenital heart disease (CHD) patients, detailed three-dimensional anatomy depiction plays a pivotal role for diagnosis and therapeutical decision making. Hence, the present study investigated the applicability of an advanced cardiovascular magnetic resonance (CMR) whole heart imaging approach utilizing nonselective excitation and compressed sensing for anatomical assessment and interventional guidance of CHD patients in comparison to conventional dynamic CMR angiography. Methods: 86 consecutive pediatric patients and adults with congenital heart disease (age, 1 to 74 years; mean, 35 years) underwent CMR imaging including a free-breathing, ECG-triggered 3D nonselective SSFP whole heart acquisition using compressed SENSE (nsWHcs). Anatomical assessability and signal intensity ratio (SIR) measurements were compared with conventional dynamic 3D-/4D-MR angiography. Results: The most frequent diagnoses were partial anomalous pulmonary venous drainage (17/86, 20%), transposition of the great arteries (15/86, 17%), tetralogy of Fallot (12/86, 14%), and a single ventricle (7/86, 8%). Image quality of nsWHcs was rated as excellent/good in 98% of patients. nsWHcs resulted in a reliable depiction of all large thoracic vessels (anatomic assessability, 99%–100%) and the proximal segments of coronary arteries and coronary sinus (>90%). nsWHcs achieved a homogenously distributed SIR in all cardiac cavities and thoracic vessels without a significant difference between pulmonary and systemic circulation (10.9 ± 3.5 and 10.6 ± 3.4; p = 0.15), while 3D angiography showed significantly increased SIR for targeted vs. non-targeted circulation (PA-angiography, 15.2 ± 8.1 vs. 5.8 ± 3.6, p < 0.001; PV-angiography, 7.0 ± 3.9 vs. 17.3 ± 6.8, p < 0.001). Conclusions: The proposed nsWHcs imaging approach provided a consistently high image quality and a homogeneous signal intensity distribution within the pulmonary and systemic circulation in pediatric patients and adults with a wide spectrum of congenital heart diseases. nsWHcs enabled detailed anatomical assessment and three-dimensional reconstruction of all cardiac cavities and large thoracic vessels and can be regarded particularly useful for preprocedural planning and interventional guidance in CHD patients.     

Physical exercise in young patients with congenital heart disease

The aim of this paper is to clarify two important aspects about patients affected by congenital heart disease. Their functional status plays a dominant role in the definition of quality of life related to health status, because of its implication in working and recreational activities. In the first part, we explain their cardiovascular adaptation on exercise, based on pathology (Tetralogy of Fallot, transposition of great arteries, univentricular heart). In the second part, we explain the risk of sudden death from congenital heart disease due to exercise, because of electrical cardiac instability and/or the structural abnormalities of the cardiovascular parietal walls.     

Congenital heart disease in adults: residua,sequelae, and complications of cardiac defects repaired at an early age

Nowadays, it is estimated that 85% of the infants born with congenital heart disease (CHD) will survive to adulthood, thanks mainly to surgical or therapeutic procedures performed during infancy or childhood. The clinical profile and disease pattern of adults with CHD is changing. The prevalence of certain adult CHDs, such as tetralogy of Fallot, transposition of the great arteries or univentricular heart, is rising, but these conditions have practically become new diseases as a result of therapy. Most surviving patients present residua, sequelae, or complications, which can progress during adult life. These disorders can present electrophysiological disturbances, valvular disease, persistent shunts, myocardial dysfunction, pulmonary or systemic vascular disease, problems caused by prosthetic materials, infectious complications, thromboembolic events, or extravascular disorders involving multiple organs or systems. In tetralogy of Fallot, the most striking problems that affect long-term prognosis are pulmonary valve regurgitation, right ventricle dysfunction, and atrial or ventricular arrhythmias. The main problems appearing after physiological atrial repair of transposition of the great arteries are related to right ventricular function, since it is structurally unprepared for systemic circulation, and atrial arrhythmias. Surgical repair of univentricular heart using Fontan techniques should be considered a palliative procedure that does not modify the underlying structural disorder and exposes the postoperative patient to severe complications and problems. The increase in the number of patients with CHD who will reach adulthood in the coming decades makes it necessary to carefully consider the new healthcare demands that are being generated, who should be responsible for them, and how and where solutions can be found.     

先天性心脏病大动脉右转位二维超声图像特征

目的 :探索大动脉右转位先天性心脏病 (先心病 )二维超声心动图 (2DE)图像特征及规律性。方法 :应用 2DE检查 344例大动脉右转位先心病 ,316例经心血管造影对照 ,193例经手术证实。结果 :344例大动脉右转位与 8种先心病共存。在 2DE胸骨旁短轴切面上 332例 (占 96 .5 % ) 2条大动脉呈 2个环状回声 ,12例 (占3.5 % )只显示主动脉 1个环状回声。 30 2例肺动脉狭窄 (PS)中 2 90例显示 2个环状回声后方内径明显小于前方内径 ,12例只显示主动脉 1个环状回声。 4 2例肺动脉高压 (PH)中 31例 2个环状回声后方内径明显大于前方内径 ,11例 2个环状回声内径大致相等。结论 :大动脉右转位与 8种先心病共存 ;在 2DE胸骨旁大动脉短轴切面上显示 2条大动脉呈 2个环状回声多见 ,显示主动脉 1个环状回声少见 ;根据 2个环状回声内径比较可判定是PS还是PH。     

Diagnosis of a congenitally corrected transposition of the great arteries in a 50-year-old multiparous woman

Congenitally corrected transposition of the great arteries (cc-TGA) is a rare congenital heart disease. In the literature, few patients with this anomaly have been reported to be asymptomatic until after the fifth decade. We describe a 50-year-old female with five pregnancies and successful deliveries, who was unrecognised until late in her fifth decade.     

Pregnancy among women with congenitally corrected transposition of great arteries.

OBJECTIVES: The outcome of pregnancy in congenitally corrected transposition of the great vessels was studied in 22 women. BACKGROUND: Women with congenitally corrected transposition of the great vessels often reach childbearing age. Although reports on the outcome of pregnancy in these women are available, the number of patients is small. METHODS: The medical and surgical databases at the Mayo Clinic were reviewed, and 36 women >16 years old with congenitally corrected transposition of the great vessels were identified. All of them were contacted, and 22 who had pregnancies were identified and the outcome of pregnancy was evaluated. RESULTS: Twenty-two women had 60 pregnancies resulting in 50 live births (83%). Forty-four deliveries (88%) were vaginal and 6 (12%) were by cesarean section. One delivery was premature at 29 weeks. There was one successful twin pregnancy. There were 11 unsuccessful pregnancies. One patient developed congestive heart failure late in pregnancy because of systemic atrioventricular valve regurgitation and required valve replacement in the early postpartum period. One patient had a total of 12 pregnancies, including 1 twin pregnancy and 2 unsuccessful pregnancies. She had multiple pregnancy-related complications, including toxemia, congestive heart failure, endocarditis and myocardial infarction (single coronary artery). No other serious pregnancy-related maternal complications and no pregnancy-related deaths occurred. The mean birth weight of the infants (n = 32) was 3.2 +/- 0.4 kg. None of the 50 live offspring have been diagnosed with congenital heart disease. CONCLUSIONS: Successful pregnancy can be achieved in most women with congenitally corrected transposition of the great arteries. The rate of fetal loss and maternal cardiovascular morbidity is increased. Because of the small number of births, the risk of congenital heart disease in offspring of women with congenitally corrected transposition of the great arteries is uncertain.     

Evaluation and management of the adult patient with transposition of the great arteries following atrial-level (Senning or Mustard) repair

Atrial-level repair for transposition of the great arteries is one of the greatest achievements of modern cardiovascular medicine, transforming a once fatal congenital heart condition into one with excellent long-term survival. Although atrial-level repair has been supplanted by the arterial switch, there remains a population of patients who underwent atrial-level repair as children and now require ongoing care as adults. Survival slowly continues to decline in this population mainly owing to systemic right ventricular dysfunction and sudden death. Other problems include sinus node dysfunction, atrial arrhythmias, systemic atrioventricular valve regurgitation, baffle problems, and pulmonary hypertension. Evaluation and management of these late complications is addressed.     

Diagnosis and management of congenital heart disease in the adult

Currently, there are 1 million people in the United States over the age of 20 with congenital heart disease. These adult congenital heart patients can "slip through the cracks of our medical system" and many are too old to be cared for in most pediatric institutions by pediatric cardiologists, and, unfortunately, most adult cardiologists are not trained in congenital heart disease. Therefore, it is important to understand what the common lesions are in adult congenital heart disease and how they should be managed. Acyanotic congenital heart disease in the adult population primarily involves left-to-right shunts, such as atrial septal defect, ventricular septal defect, patent ductus arteriosus, and obstructive lesions such as aortic coarctation of the aorta. The most common form of cyanotic congenital heart disease in adults is tetralogy of Fallot. Other complex conditions seen in adults include univentricular hearts, Ebstein's anomaly of the tricuspid valve, and corrected transposition of the great vessels. Most patients with congenital heart disease will need to undergo surgery, catheterization, or catheterization intervention. Results are excellent in the adult population. Long-term follow-up is needed for any adult congenital heart patient receiving care in institutions that are well organized and well equipped, as we learn more about the natural and unnatural history of these conditions.     

Heart transplantation in adults with end-stage congenital heart disease

Residual abnormalities in cardiac structure and function predispose adults with congenital heart disease to late-onset heart failure and its complications. Evaluation of this population requires collaboration between adult congenital and heart failure specialists. In addition to assessing heart transplant eligibility, clinicians must balance the risks of premature listing against progressive heart failure and increased waiting list mortality. Following heart transplantation, adults with congenital heart disease have higher mortality due to an increased risk of bleeding, infection and donor right heart failure secondary to pulmonary hypertension. Concerns relating to increased early mortality should be balanced against superior long-term survival in adult congenital heart disease patients surviving beyond the first year after heart transplantation.     

Aortopulmonary window: clinical assessment and surgical results

INTRODUCTION AND OBJECTIVES: Aortopulmonary septal defect is an uncommon congenital cardiac anomaly. To date, approximately 300 cases have been reported. We present our experience, emphasizing the importance of early correction to avoid irreversible pulmonary hypertension. PATIENTS AND METHOD: Between 1979 and 2000, seven patients underwent surgical repair of this heart defect in our hospital. Two had type I (proximal), 4 had type II (distal) and 1 had type III (complete). Complex associated cardiac anomalies were present in 4 cases: type A interruption of the aortic arch in 2 cases, hypoplastic aortic arch in 1 and transposition of great arteries with ventricular septal defect in 1.Four cases (57%) were diagnosed by echocardiography. In all patients diagnoses were confirmed by cardiac catheterization.Patient records were reviewed retrospectively, with special attention to clinical, echocardiographic and hemodynamic data as well as surgical characteristics. RESULTS: No intraoperative deaths occurred. The patient with associated transposition of great arteries died 22 days after surgery as a result of severe pulmonary hypertension. The remaining patients are asymptomatic without treatment after a mean follow-up period of 69 months. CONCLUSIONS: Even though aortopulmonary septal defect is a rare anomaly, it should be considered whenever the course of complex congenital heart disease includes early cardiac failure and pulmonary hypertension. Repair before 6 months will prevent irreversible damage of pulmonary vessels.     

Is there a place for cardiovascular magnetic resonance imaging in the evaluation of cardiovascular involvement in rheumatic diseases?

Cardiovascular magnetic resonance (CMR) is a noninvasive, nonradiating imaging technique, which provides novel information for the evaluation of cardiovascular diseases. Until now it has been successfully used for the evaluation of congenital and acquired heart diseases, cardiac tumors-mass, iron overload, and myocardial fibrosis detection. Recently, its diagnostic capabilities have been extended to the evaluation of myocardial inflammation and myocardial perfusion. Currently, it is considered the gold standard for the evaluation of volumes, mass, ejection fraction of atriums and ventricles, quantification of iron overload in different organs, detection and follow-up of myocardial inflammation, myocardial infarction and its complications, evaluation of the aorta, detection of anomalous coronary arteries, and ectatic or aneurysmatic coronary arteries. All the above applications and mainly the CMR ability to detect myocardial inflammation, perfusion defects, fibrosis, coronary and great arteries aneurysms make it a valuable tool for cardiovascular system assessment, commonly affected during the course of rheumatic diseases. The technique has been already successfully used in the evaluation of vasculitides, systemic lupus erythematosus, myositis, and scleroderma. However, further studies are needed to evaluate its usefulness as a diagnostic and monitoring tool of cardiovascular involvement in rheumatic patients.     

Isolated ventricular inversion with situs solitus.

The clinical and anatomical findings in two patients with isolated ventricular inversion and situs solitus are described. The other 4 previously published cases are reviewed. The 6 patients with this malformation, all without pulmonary stenosis, presented a clinical picture of cyanotic congenital heart disease, associated with increased pulmonary blood flow (hypoxaemia and cardiac failure). The importance of different diagnostic tests is discussed and it is concluded that angiocardiography is the only definitive means of establishing the dianosis. Because the physiopathological disturbance is the same as in transposition of the great arteries, both malformations should be similarly considered with respect to diagnosis and treatment. Nevertheless, the high incidence of certain associated malformations in cases of isolated ventricular inversion adds to difficulty in diagnosis, and makes a good result from the Mustard procedure less likely than in transposition of the great arteries.     

Isolated ventricular inversion with situs solitus.

The clinical and anatomical findings in two patients with isolated ventricular inversion and situs solitus are described. The other 4 previously published cases are reviewed. The 6 patients with this malformation, all without pulmonary stenosis, presented a clinical picture of cyanotic congenital heart disease, associated with increased pulmonary blood flow (hypoxaemia and cardiac failure). The importance of different diagnostic tests is discussed and it is concluded that angiocardiography is the only definitive means of establishing the dianosis. Because the physiopathological disturbance is the same as in transposition of the great arteries, both malformations should be similarly considered with respect to diagnosis and treatment. Nevertheless, the high incidence of certain associated malformations in cases of isolated ventricular inversion adds to difficulty in diagnosis, and makes a good result from the Mustard procedure less likely than in transposition of the great arteries.