History

Fact Explanation
Bluish discoloration of the baby(cyanosis)[1][2] In transposition of the great arteries aorta is connected to the right ventricle and pulmonary artery is connected to left ventricle. This is a congenital abnormality causing right to left shunt. Cyanosis is a predominant symptom and always present in this condition. this is due to the transportation of deoxygenated blood in right ventricle to the systemic circulation via aorta. This is present within hours of birth, if patient is having coexisting septal defect cyanosis will be less severe as it mix the deoxygenated and oxygenated blood.
Shortness of breath, sweating on exertion( eg: during sucking milk), failure to gain weight Those signs which are suggestive of congestive heart failure[3][4] will become more prominent over the first 3-6 weeks as pulmonary blood flow increases.
References
  1. SANDOR GG, PATTERSON MW, TIPPLE M, VINCE DJ. Reliability of systolic time intervals in diagnosis of transposition of great arteries in newborn. Br Heart J [online] 1981 Jul, 46(1):74-79 [viewed 18 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC482605
  2. INGOMAR CJ, TERSLEV E. COMPLETE TRANSPOSITION OF THE GREAT VESSELS Br Heart J [online] 1962 May, 24(3):358-362 [viewed 18 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017893
  3. MILANESI O, THIENE G, BINI RM, PELLEGRINO PA. Complete transposition of great arteries with coarctation of aorta. Br Heart J [online] 1982 Dec, 48(6):566-571 [viewed 18 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC482750
  4. MARTINS P, CASTELA E. Transposition of the great arteries Orphanet J Rare Dis [online] :27 [viewed 18 August 2014] Available from: doi:10.1186/1750-1172-3-27

Examination

Fact Explanation
Cyanosis[1][2] As described in the history, this condition causes transportation of deoxygenated blood in the systemic circulation. Increased level of deoxygenated hemoglobin leads to this clinical manifestation. Cyanosis is more prominent in perioral and periorbital areas, and it will be progressive if the patient is not having a septal defect. If there is a big septal defect( eg: large VSD) the cyanosis will be mild at begining and become more prominent during crying[3].
Single second heart sound This due to overlapping of both aortic and pulmonary valve closure. This is usually palpable over left sternal edge[3].
Tachycardia In 1/3 of patients, complete atrioventricular block can be occur. Other than that patient can develop sick sinus syndrome, atrial flutter, re-entrant atrioventricular tachycardia and ventricular tachycardia[3].
Systolic murmur Usually there won't be a murmur, but patients may develop a systolic murmur[3] due to the increased blood flow from left ventricle to pulmonary artery.
Poor growth of the baby, head sweating during feeding These are suggestive of congestive heart failure[3].
References
  1. SANDOR GG, PATTERSON MW, TIPPLE M, VINCE DJ. Reliability of systolic time intervals in diagnosis of transposition of great arteries in newborn. Br Heart J [online] 1981 Jul, 46(1):74-79 [viewed 18 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC482605
  2. INGOMAR CJ, TERSLEV E. COMPLETE TRANSPOSITION OF THE GREAT VESSELS Br Heart J [online] 1962 May, 24(3):358-362 [viewed 18 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017893
  3. WALLIS GA, DEBICH-SPICER D, ANDERSON RH. Congenitally corrected transposition Orphanet J Rare Dis [online] :22 [viewed 18 August 2014] Available from: doi:10.1186/1750-1172-6-22

Differential Diagnoses

Fact Explanation
Tetralogy of Fallot[1] This is the most common cause of cyanotic congenital heart disease. In this condition there is a large VSD, overriding of the aorta, subpulmonary stenosis and right ventricular hypertrophy. Patient will present with cyanosis, clubbing and a loud harsh ejection systolic murmur at left sternal edge.
Eisenmenger syndrome[2] This usually develops at about 10-15 years after the heart disease. In a large left to right shunt there is high pulmonary blood flow and with the time pulmonary artery all become thick increasing the pulmonary resistance. So with the time the shunt will reverse giving symptoms of cyanotic heart disease.
Complete atrioventricular septal defect[3] This is common in children with down syndrome.There is a defect in atrioventricular septum giving cyanosis at birth of heart failure at 2-3 weeks of life.
Complex congenital heart disease[4] There are so many conditions and the commonest one is tricuspid atresia where there is one effective ventricle due to complete absence of the tricuspid valve. Children will present with cyanosis and breathlessness.
References
  1. BAILLIARD F, ANDERSON RH. Tetralogy of Fallot Orphanet J Rare Dis [online] :2 [viewed 18 August 2014] Available from: doi:10.1186/1750-1172-4-2
  2. WOOD P. The Eisenmenger Syndrome: II Br Med J [online] 1958 Sep 27, 2(5099):755-762 [viewed 18 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2026272
  3. CRAIG B. Atrioventricular septal defect: from fetus to adult Heart [online] 2006 Dec, 92(12):1879-1885 [viewed 18 August 2014] Available from: doi:10.1136/hrt.2006.093344
  4. GLASER A, WALKER D. Quality of life in surgically palliated complex congenital heart disease. Arch Dis Child [online] 1994 Nov, 71(5):482 [viewed 18 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1030073

Investigations - for Diagnosis

Fact Explanation
ECG ECG finding is usually normal with transposition of great arteries unless there is any complications.
Echocardiogram This is essential in confirming the diagnosis of the condition as it will show the anatomy of the abnormality[1].
Chest X ray[1] This gives the classical appearance of 'egg on side' due to anteroposterior relationship of the great arteries, hypertrophy of the right ventricle and narrow vascular pedicle. there will be increased pulmonary vascular markings due to increased pulmonary artery blood flow.
References
  1. WALLIS GA, DEBICH-SPICER D, ANDERSON RH. Congenitally corrected transposition Orphanet J Rare Dis [online] :22 [viewed 18 August 2014] Available from: doi:10.1186/1750-1172-6-22

Investigations - Fitness for Management

Fact Explanation
Arterial oxygen saturation[1] This will give an idea of the oxygen saturation of the arterial blood.
Full blood count Full blood count will helpful in assessing the hemoglobin level as low haemoglobin level[2] will further reduce the systemic blood supply. WBC level is useful in assessing any coexisting infection as these patients are more prone to get infections.
References
  1. HIMWICH HE, LOEBEL RO. THE OXYGEN SATURATION OF HEMOGLOBIN IN THE ARTERIAL BLOOD OF EXERCISING PATIENTS J Clin Invest [online] 1927 Dec, 5(1):113-124 [viewed 18 August 2014] Available from: doi:10.1172/JCI100144
  2. THARAKAN JA. Admixture lesions in congenital cyanotic heart disease Ann Pediatr Cardiol [online] 2011, 4(1):53-59 [viewed 18 August 2014] Available from: doi:10.4103/0974-2069.79625

Investigations - Followup

Fact Explanation
Echocardiogram[1] This is useful in assessing the patients condition before and after surgical treatments, also during follow up.
References
  1. WALLIS GA, DEBICH-SPICER D, ANDERSON RH. Congenitally corrected transposition Orphanet J Rare Dis [online] :22 [viewed 18 August 2014] Available from: doi:10.1186/1750-1172-6-22

Investigations - Screening/Staging

Fact Explanation
Fetal echosonography[1] This is useful in prenatal screening for the condition. If there is a positive family history of congenital heart disease or when other congenital heart defects have been found during fetal screening this is useful.
MRI[1] This also useful in prenatal period to assess the anatomical abnormality.
cardiac cathererization[1] This also use in prenatal period.
References
  1. WALLIS GA, DEBICH-SPICER D, ANDERSON RH. Congenitally corrected transposition Orphanet J Rare Dis [online] :22 [viewed 18 August 2014] Available from: doi:10.1186/1750-1172-6-22

Management - General Measures

Fact Explanation
Oxygen therapy[1] In transposition of the great vessels the blood is oxygenated while going through the lungs and returns to the heart(left atrium) instead of going to systemic circulation. This oxygenated blood goes again to the lungs. Similar to that deoxygenated blood in right atrium goes in to the systemic circulation. Unless there is a communication in between two circulations there is no improvement with oxygen therapy. If there is a large septal defect there can be improvement with this.
Nutritional rehabilitation This is a very important aspect in these children as they are more prone to get nutritional problems due to poor intake, frequent infections and stressful situations like surgeries which increase the catabolism.Therefore parents must be well educated regarding supplementation of balanced diet that includes adequate amounts of calories, fat, proteins, vitamin and minerals. Proper practice of breast feeding, and in a case of failure, formula feeding should be advised to maintain adequate state of nutrition. Parenteral feeding can be considered in a case of intolerance oral feeding and during the post op period. [3]
Assessment of the growth Child's growth will be poor with this congenital cyanotic heart disease[1][2] as a complication. Assessment of the growth by measuring weight and length/height parameters will useful. Early nutritional rehabilitation will be helpful in preventing failure to thrive.
Prevention and early treatment of recurrent infections[4] These children are more prone to get recurrent infections like respiratory tract infection and gastroenteritis due to low level of immunity. So it is important in prevention by minimizing the exposure to microbes ( eg avoid crowded places, keep away from ill children/ family members) and early treatment when appropriate.
References
  1. MARTINS P, CASTELA E. Transposition of the great arteries Orphanet J Rare Dis [online] :27 [viewed 18 August 2014] Available from: doi:10.1186/1750-1172-3-27
  2. MILANESI O, THIENE G, BINI RM, PELLEGRINO PA. Complete transposition of great arteries with coarctation of aorta. Br Heart J [online] 1982 Dec, 48(6):566-571 [viewed 18 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles
  3. SIMPORE J, KABORE F, ZONGO F, DANSOU D, BERE A, PIGNATELLI S, BIONDI DM, RUBERTO G, MUSUMECI S. Nutrition rehabilitation of undernourished children utilizing Spiruline and Misola Nutr J [online] :3 [viewed 19 August 2014] Available from: doi:10.1186/1475-2891-5-3
  4. KUMAR S, PHADKE M, KERKAR P. Supratricuspid obstructive membrane in congenitally corrected transposition of the great arteries Ann Pediatr Cardiol [online] 2013, 6(2):204-205 [viewed 19 August 2014] Available from: doi:10.4103/0974-2069.115287

Management - Specific Treatments

Fact Explanation
Prostaglandin infusion This is useful in maintaining the ductus arteriosus as it will shunt the blood from pulmonary artery to aorta via a pressure gradient. This is useful in controlling the condition to a certain extent.
Balloon atrial septostomy This is a life saving procedure. Using a catheter and inflatable balloon atrial septum is tears, making a passage to mixed the atrial blood. This is useful in controlling the condition until surgery.
Surgery[3][4][5][6] in transposition of the great arteries with intact ventricular septum All patients will require surgery. This is a correcting surgery of arteries which is usually done in first few days of the life. For transposition with intact ventricular septum arterial switch procedure is the ideal surgery. During surgery anatomic repair and ventriculoarterial concordance establishment is been done. This is usually done in infant is younger than 4 weeks as if anatomical defect kept for long period left ventricle may get use to low pressure, low resistance pulmonary circulation and will not be able to handle high systemic pressure after surgery.
Surgery[3][4] in transposition of the great arteries with ventricular septal defect For transposition of the great arteries with ventricular septal defect (VSD),arterial switch procedure with ventricular septal defect closure is recommended. Rastelli-type intracardiac repair is indicated if the ventricular septal defect is large and nonrestrictive. in here Waite for some time until baby grows.
Surgery[3][4] in transposition of the great arteries with ventricular septal defect and left ventricular outflow tract obstruction For transposition with VSD and left ventricular outflow tract obstruction, arterial switch operation may not be indicated due to left ventricular outflow tract by stenosis or atresia. Rastelli intracardiac repair could be possible in this condition. As mentioned above this surgery is been done after a certain time, until that aortopulmonary shunt will be necessary to establish adequate pulmonary blood flow.
Surgery[3][4] in transposition of the great arteries with ventricular septal defect and pulmonary vascular obstructive disease[7] For transposition with VSD and pulmonary vascular obstructive disease, surgical treatment will not effective for them and palliation should be considered.
Surgery[3][4] in congestive heart failure If the infant has excessive congestive heart failure it is advisable to make an aortopulmonary shunt after banding/ligating the main pulmonary artery during the newborn period to restrict pulmonary blood flow.
References
  1. BEITZKE A, SUPPAN CH. Use of prostaglandin E2 in management of transposition of great arteries before balloon atrial septostomy. Br Heart J [online] 1983 Apr, 49(4):341-344 [viewed 18 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC481310
  2. VENABLES AW. Balloon atrial septostomy in complete transposition of great arteries in infancy. Br Heart J [online] 1970 Jan, 32(1):61-65 [viewed 18 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC487273
  3. VENUGOPAL P, SUBRAMANIAN S. SURGICAL TREATMENT OF TRANSPOSITION OF THE GREAT ARTERIES WITH INTACT VENTRICULAR SEPTUM UNDER THE AGE OF TWO YEARS Cardiovasc Dis [online] 1974, 1(2):123-126 [viewed 18 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC287474
  4. WATSON H. Palliative procedures for transposition of the great arteries. Br Heart J [online] 1969 Jul, 31(4):407-413 [viewed 19 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC487512
  5. ZAVANELLA C, SUBRAMANIAN S. Review: surgery for transposition of the great arteries in the first year of life. Ann Surg [online] 1978 Feb, 187(2):143-150 [viewed 19 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1396488
  6. ARONSTAM EM, HEWLETT TH, ORBISON JA, FRANKLIN RB, DIXON LM. Surgical Correction of Transposition of the Great Vessels A Successful Complete Correction Ann Surg [online] 1963 Aug, 158(2):282-284 [viewed 19 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1408537
  7. KUMAR A, TAYLOR GP, SANDOR GG, PATTERSON MW. Pulmonary vascular disease in neonates with transposition of the great arteries and intact ventricular septum. Br Heart J [online] 1993 May, 69(5):442-445 [viewed 19 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1025109