Genomes and Genes
transposition of great vessels
Summary: A congenital cardiovascular malformation in which the AORTA arises entirely from the RIGHT VENTRICLE, and the PULMONARY ARTERY arises from the LEFT VENTRICLE. Consequently, the pulmonary and the systemic circulations are parallel and not sequential, so that the venous return from the peripheral circulation is re-circulated by the right ventricle via aorta to the systemic circulation without being oxygenated in the lungs. This is a potentially lethal form of heart disease in newborns and infants.
- Buys R, Van de Bruaene A, Budts W, Delecluse C, Vanhees L. In adults with atrial switch operation for transposition of the great arteries low physical activity relates to reduced exercise capacity and decreased perceived physical functioning. Acta Cardiol. 2012;67:49-57 pubmed..Furthermore, an active lifestyle has a positive effect on exercise capacity and perceived physical functioning. Therefore it might be indicated to encourage d-TGA patients to adopt a more physically active lifestyle. ..
- Ho J, Cohen M, Ebenroth E, Schamberger M, Cordes T, Bramlet M, et al. Comparison between transthoracic echocardiography and cardiac magnetic resonance imaging in patients status post atrial switch procedure. Congenit Heart Dis. 2012;7:122-30 pubmed publisher..Cost differences are minimal. We propose that cardiac magnetic resonance imaging be considered first line for imaging in certain patients' status post atrial switch procedure. ..
- Giardini A, Hager A, Lammers A, Derrick G, Muller J, Diller G, et al. Ventilatory efficiency and aerobic capacity predict event-free survival in adults with atrial repair for complete transposition of the great arteries. J Am Coll Cardiol. 2009;53:1548-55 pubmed publisher..Subjects with enhanced ventilatory response to exercise or those with poor exercise capacity have a substantially higher 4-year risk of death/cardiac-related emergency hospital admission. ..
- Singh T, Humes R, Muzik O, Kottamasu S, Karpawich P, Di Carli M. Myocardial flow reserve in patients with a systemic right ventricle after atrial switch repair. J Am Coll Cardiol. 2001;37:2120-5 pubmed..93+/-0.63 vs. 4.74+/-1.09, respectively, p < 0.01). Myocardial flow reserve is impaired in systemic RVs in survivors of the Mustard operation. This may contribute to systemic ventricular dysfunction in these patients. ..
- Moons P, Gewillig M, Sluysmans T, Verhaaren H, Viart P, Massin M, et al. Long term outcome up to 30 years after the Mustard or Senning operation: a nationwide multicentre study in Belgium. Heart. 2004;90:307-13 pubmed..Overall mortality in the Senning cohort did not differ from the Mustard group, but Senning patients had better functional status, greater participation in sports activities, and fewer baffle related problems. ..
- Brawn W, Barron D. Technical aspects of the Rastelli and atrial switch procedure for congenitally corrected transposition of the great arteries with ventricular septal defect and pulmonary stenosis or atresia: results of therapy. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2003;6:4-8 pubmed..A disadvantage is that these patients require valved conduit changes over the years. ..
- Angeli E, Raisky O, Bonnet D, Sidi D, Vouhé P. Late reoperations after neonatal arterial switch operation for transposition of the great arteries. Eur J Cardiothorac Surg. 2008;34:32-6 pubmed publisher..Left ventricular function is maintained in the vast majority of patients. Reoperation may be indicated in some patients for other reasons: mitral valve malformation, tracheo-bronchial compression or pulmonary hypertension. ..
- Beauchesne L, Warnes C, Connolly H, Ammash N, Tajik A, Danielson G. Outcome of the unoperated adult who presents with congenitally corrected transposition of the great arteries. J Am Coll Cardiol. 2002;40:285-90 pubmed..Although excellent early surgical results can be achieved, significant residual dysfunction of the SV is common. ..
- Duncan B, Mee R, Mesia C, Qureshi A, Rosenthal G, Seshadri S, et al. Results of the double switch operation for congenitally corrected transposition of the great arteries. Eur J Cardiothorac Surg. 2003;24:11-9; discussion 19-20 pubmed..The theoretical advantages of this procedure which enables the morphologic left ventricle and mitral valve to support a systemic pressure load must be established by careful follow-up of these patients. ..
- Amin Z, McElhinney D, Moore P, Reddy V, Hanley F. Coronary arterial size late after the atrial inversion procedure for transposition of the great arteries: implications for the arterial switch operation. J Thorac Cardiovasc Surg. 2000;120:1047-52 pubmed
- Giardini A, Lovato L, Donti A, Formigari R, Oppido G, Gargiulo G, et al. Relation between right ventricular structural alterations and markers of adverse clinical outcome in adults with systemic right ventricle and either congenital complete (after Senning operation) or congenitally corrected transposition of the great ar. Am J Cardiol. 2006;98:1277-82 pubmed..The presence of abnormal myocardial regions is associated with RV dysfunction, poor exercise tolerance, arrhythmia, and progressive clinical deterioration. ..
- Digilio M, Casey B, Toscano A, Calabro R, Pacileo G, Marasini M, et al. Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence. Circulation. 2001;104:2809-14 pubmed
- Gatzoulis M, Walters J, McLaughlin P, Merchant N, Webb G, Liu P. Late arrhythmia in adults with the mustard procedure for transposition of great arteries: a surrogate marker for right ventricular dysfunction?. Heart. 2000;84:409-15 pubmed..Late atrial flutter/fibrillation may be a surrogate marker for ventricular dysfunction, and these patients may also be at risk of ventricular tachycardia. ..
- Ashworth M, Al Adnani M, Sebire N. Neonatal death due to transposition in association with premature closure of the oval foramen. Cardiol Young. 2006;16:586-9 pubmed..Premature closure of the oval foramen is rare in the setting of transposition. As far as we know, there have been only three previously reported cases. ..
- Khairy P, Landzberg M, Lambert J, O Donnell C. Long-term outcomes after the atrial switch for surgical correction of transposition: a meta-analysis comparing the Mustard and Senning procedures. Cardiol Young. 2004;14:284-92 pubmed..We conclude that outcomes are not uniform among patients submitted to the Mustard and Senning procedures. Knowledge of such differences may facilitate stratification of risk and follow-up. ..
- Bonnet D, Coltri A, Butera G, Fermont L, Le Bidois J, Kachaner J, et al. Detection of transposition of the great arteries in fetuses reduces neonatal morbidity and mortality. Circulation. 1999;99:916-8 pubmed..Prenatal detection of this cardiac defect must be increased to improve early neonatal management. In utero transfer of fetuses with prenatal diagnosis of TGA in an appropriate unit is mandatory. ..
- Langley S, Winlaw D, Stumper O, Dhillon R, De Giovanni J, Wright J, et al. Midterm results after restoration of the morphologically left ventricle to the systemic circulation in patients with congenitally corrected transposition of the great arteries. J Thorac Cardiovasc Surg. 2003;125:1229-41 pubmed..Continued surveillance is necessary for patents with valved conduits and to determine the longer-term function of the aortic valve and the morphologically left ventricle in the systemic circulation. ..
- Sharma R, Bhan A, Juneja R, Kothari S, Saxena A, Venugopal P. Double switch for congenitally corrected transposition of the great arteries. Eur J Cardiothorac Surg. 1999;15:276-81; discussion 281-2 pubmed..Satisfactory early and mid term results of anatomic repair support the double switch option as the procedure of choice for patients of CCTGA amenable to biventricular repair. ..
- Marino B, Digilio M, Versacci P, Anaclerio S, Dallapiccola B. [Transposition of great arteries. Understanding its pathogenesis]. Ital Heart J Suppl. 2002;3:154-60 pubmed..The mystery is still present but perhaps some gleams of light are appearing. ..
- Kuehl K, Loffredo C. Population-based study of l-transposition of the great arteries: possible associations with environmental factors. Birth Defects Res A Clin Mol Teratol. 2003;67:162-7 pubmed..Additional research is needed to identify the components of spatial and other associations that constitute etiologic risk factors. ..
- Chiu I, Wu S, Chen S, Wang J, Wu M, Lue H. Sequential diagnosis of coronary arterial anatomy in congenitally corrected transposition of the great arteries. Ann Thorac Surg. 2003;75:422-9; discussion 429 pubmed..The central CA pattern near the aortic sinus depended on aortopulmonary rotation due to "marriage of convenience" between them, and thus was predictable from arterial relations irrespective of its disease category. ..
- Graham T, Bernard Y, Mellen B, Celermajer D, Baumgartner H, Cetta F, et al. Long-term outcome in congenitally corrected transposition of the great arteries: a multi-institutional study. J Am Coll Cardiol. 2000;36:255-61 pubmed
- Mahle W, McBride M, Paridon S. Exercise performance after the arterial switch operation for D-transposition of the great arteries. Am J Cardiol. 2001;87:753-8 pubmed..The finding of ST-segment depression in some subjects supports the role of formal exercise testing in those patients participating in vigorous athletic activities. ..
- Budts W, Scheurwegs C, Stevens A, Moons P, Van Deyk K, Vanhees L. The future of adult patients after Mustard or Senning repair for transposition of the great arteries. Int J Cardiol. 2006;113:209-14 pubmed..The inverse relationship between age and the cardiac indices suggests an age dependent and progressive diminution of systemic ventricular function. ..
- Al Qethamy H, Aizaz K, Aboelnazar S, Hijab S, al Faraidi Y. Two-stage arterial switch operation: is late ever too late?. Asian Cardiovasc Thorac Ann. 2002;10:235-9 pubmed
- Losay J, Touchot A, Serraf A, Litvinova A, Lambert V, Piot J, et al. Late outcome after arterial switch operation for transposition of the great arteries. Circulation. 2001;104:I121-6 pubmed..AI and coronary obstruction are rare but warrant further follow-up. Good left ventricular function and sinus rhythm are maintained. ..
- Dibardino D, Allison A, Vaughn W, McKenzie E, Fraser C. Current expectations for newborns undergoing the arterial switch operation. Ann Surg. 2004;239:588-96; discussion 596-8 pubmed..Using current methodologies, the ASO can be performed safely and with a low incidence of need for reoperation on intermediate follow-up. Recent experience indicates operative survival rates approaching 100%. ..
- Biliciler Denktas G, Feldt R, Connolly H, Weaver A, Puga F, Danielson G. Early and late results of operations for defects associated with corrected transposition and other anomalies with atrioventricular discordance in a pediatric population. J Thorac Cardiovasc Surg. 2001;122:234-41 pubmed..These results can serve as a basis for comparison with newer surgical alternatives proposed for corrected transposition of the great arteries. ..
- Reybrouck T, Mertens L, Brown S, Eyskens B, Daenen W, Gewillig M. Long-term assessment and serial evaluation of cardiorespiratory exercise performance and cardiac function in patients with atrial switch operation for complete transposition. Cardiol Young. 2001;11:17-24 pubmed..Serial exercise testing appears useful, because in individual patients in the present study, a decreasing exercise tolerance correlated with development of haemodynamic sequels. ..
- Morell V, Jacobs J, Quintessenza J. Aortic translocation in the management of transposition of the great arteries with ventricular septal defect and pulmonary stenosis: results and follow-up. Ann Thorac Surg. 2005;79:2089-92; discussion 2092-3 pubmed
- Loffredo C, Silbergeld E, Ferencz C, Zhang J. Association of transposition of the great arteries in infants with maternal exposures to herbicides and rodenticides. Am J Epidemiol. 2001;153:529-36 pubmed..6). No data were collected on specific chemicals or brand names. These results raise new questions about the possible epidemiologic association of TGA with some classes of pesticides and warrant new, carefully targeted investigations. ..
- Dos L, Teruel L, Ferreira I, Rodríguez Larrea J, Miro L, Girona J, et al. Late outcome of Senning and Mustard procedures for correction of transposition of the great arteries. Heart. 2005;91:652-6 pubmed..Nevertheless, better outcomes may be offered through improved diagnostic methods for right ventricular function and better management of supraventricular tachyarrhythmias. ..
- Daebritz S, Nollert G, Sachweh J, Engelhardt W, von Bernuth G, Messmer B. Anatomical risk factors for mortality and cardiac morbidity after arterial switch operation. Ann Thorac Surg. 2000;69:1880-6 pubmed..ASO can be performed with low operative mortality (< 5%) and long-term morbidity. Malformations associated with complex transposition of the great arteries influence early and late mortality. ..
- Roos Hesselink J, Meijboom F, Spitaels S, van Domburg R, van Rijen E, Utens E, et al. Decline in ventricular function and clinical condition after Mustard repair for transposition of the great arteries (a prospective study of 22-29 years). Eur Heart J. 2004;25:1264-70 pubmed..We can expect more deaths or need for heart transplantation in the next decade. ..
- Lee J, Lim H, Kim Y, Rho J, Bae E, Noh C, et al. Repair of transposition of the great arteries, ventricular septal defect and left ventricular outflow tract obstruction. Eur J Cardiothorac Surg. 2004;25:735-41 pubmed..The Lecompte procedure and Rastelli repair provide satisfactory early and late results. However, substantial late morbidity is more associated with conduit obstruction, and LVOTO in Rastelli repair rather than Lecompte procedure. ..
- Prieto L, Hordof A, Secic M, Rosenbaum M, Gersony W. Progressive tricuspid valve disease in patients with congenitally corrected transposition of the great arteries. Circulation. 1998;98:997-1005 pubmed..Decisions related to surgical interventions with or without associated lesions must be strongly influenced by the status of the tricuspid valve. ..
- Lacour Gayet F, Piot D, Zoghbi J, Serraf A, Gruber P, Mace L, et al. Surgical management and indication of left ventricular retraining in arterial switch for transposition of the great arteries with intact ventricular septum. Eur J Cardiothorac Surg. 2001;20:824-9 pubmed..The quality of the myocardium generated and the respective roles played by the LV afterload, LV wall shear stress, LV inflow and outflow to induce the LV remodeling remain under debate. ..
- Piran S, Veldtman G, Siu S, Webb G, Liu P. Heart failure and ventricular dysfunction in patients with single or systemic right ventricles. Circulation. 2002;105:1189-94 pubmed..This study suggests the importance of identifying this group of patients who are at risk for heart failure and considering strategies to preserve ventricular function. ..
- Fredriksen P, Pettersen E, Thaulow E. Declining aerobic capacity of patients with arterial and atrial switch procedures. Pediatr Cardiol. 2009;30:166-71 pubmed publisher..The results indicate that chronotropic incompetence may be one of the reasons for diminishing capacity. The decline in exercise performance leads the authors to recommend regular follow-up exercise testing. ..
- Sharland G, Tingay R, Jones A, Simpson J. Atrioventricular and ventriculoarterial discordance (congenitally corrected transposition of the great arteries): echocardiographic features, associations, and outcome in 34 fetuses. Heart. 2005;91:1453-8 pubmed..Isolated cases are rare prenatally (14%) but the short term survival in our fetal series is good. Where pregnancy was continued, 19 of 23 babies (82%) remained alive. ..
- Grotenhuis H, Ottenkamp J, Fontein D, Vliegen H, Westenberg J, Kroft L, et al. Aortic elasticity and left ventricular function after arterial switch operation: MR imaging--initial experience. Radiology. 2008;249:801-9 pubmed publisher..001). Aortic root dilatation and reduced elasticity of the proximal aorta are frequently observed in patients who have undergone the ASO, in addition to minor degrees of AR, reduced LV systolic function, and increased LV dimensions. ..
- Rutledge J, Nihill M, Fraser C, Smith O, McMahon C, Bezold L. Outcome of 121 patients with congenitally corrected transposition of the great arteries. Pediatr Cardiol. 2002;23:137-45 pubmed..We support a move toward an alternative surgical approach (double switch procedure) in carefully selected patients. ..
- Quinn D, McGuirk S, Metha C, Nightingale P, De Giovanni J, Dhillon R, et al. The morphologic left ventricle that requires training by means of pulmonary artery banding before the double-switch procedure for congenitally corrected transposition of the great arteries is at risk of late dysfunction. J Thorac Cardiovasc Surg. 2008;135:1137-44, 1144.e1-2 pubmed publisher..There is an increased risk of deterioration of morphologic left ventricle function over time in patients whose morphologic left ventricle requires training, and these patients need to be followed up regularly to detect this. ..
- Shin oka T, Kurosawa H, Imai Y, Aoki M, Ishiyama M, Sakamoto T, et al. Outcomes of definitive surgical repair for congenitally corrected transposition of the great arteries or double outlet right ventricle with discordant atrioventricular connections: risk analyses in 189 patients. J Thorac Cardiovasc Surg. 2007;133:1318-28, 1328.e1-4 pubmed..Results of anatomic repair were also satisfactory even for patients with significant tricuspid regurgitation, and therefore, anatomic repair should be the procedure of choice for those patients. ..
- Goldmuntz E, Bamford R, Karkera J, dela Cruz J, Roessler E, Muenke M. CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet. 2002;70:776-80 pubmed..In addition, these results demonstrate that the molecular pathway involving CFC1 plays a critical role in normal and abnormal cardiovascular development. ..
- Cipollone D, Amati F, Carsetti R, Placidi S, Biancolella M, D Amati G, et al. A multiple retinoic acid antagonist induces conotruncal anomalies, including transposition of the great arteries, in mice. Cardiovasc Pathol. 2006;15:194-202 pubmed..Transposition of the great arteries can be consistently reproduced in mice by administration of a retinoic acid competitive antagonist on 7.5 dpc. ..
- Winlaw D, McGuirk S, Balmer C, Langley S, Griselli M, Stumper O, et al. Intention-to-treat analysis of pulmonary artery banding in conditions with a morphological right ventricle in the systemic circulation with a view to anatomic biventricular repair. Circulation. 2005;111:405-11 pubmed..Patients >16 years were unlikely to achieve anatomic repair. PA banding is a safe and effective method of training the mLV before anatomic repair. It is also an effective palliative procedure for those who do not attain this goal. ..
- Hornung T, Bernard E, Celermajer D, Jaeggi E, Howman Giles R, Chard R, et al. Right ventricular dysfunction in congenitally corrected transposition of the great arteries. Am J Cardiol. 1999;84:1116-9, A10 pubmed..6 +/- 2.3 of a total of 12 segments; the extent of the resting perfusion defects correlated inversely with the RV ejection fraction. ..
- Vogt M, Kuhn A, Wiese J, Eicken A, Hess J, Vogel M. Reduced contractile reserve of the systemic right ventricle under Dobutamine stress is associated with increased brain natriuretic peptide levels in patients with complete transposition after atrial repair. Eur J Echocardiogr. 2009;10:691-4 pubmed publisher..A correlation was found between increase in IVA under Dobutamine and BNP levels (r = 0.57, P < 0.02). Elevated BNP levels correlate with response of systolic right ventricular function assessed by IVA to Dobutamine stress. ..
- Martins P, Tran V, Price G, Tsang V, Cook A. Extending the surgical boundaries in the management of the left ventricular outflow tract obstruction in discordant ventriculo-arterial connections--a surgical and morphological study. Cardiol Young. 2008;18:124-34 pubmed publisher..In this review, we assess all these surgical and anatomic aspects, focussing on their relative importance in clinical assessment. ..
- Williams W, McCrindle B, Ashburn D, Jonas R, Mavroudis C, Blackstone E. Outcomes of 829 neonates with complete transposition of the great arteries 12-17 years after repair. Eur J Cardiothorac Surg. 2003;24:1-9; discussion 9-10 pubmed..With the exception of Rastelli patients, the likelihood of survivors needing re-intervention after 5 years is low. There is need for improved neurodevelopmental outcomes. ..