|Year : 2016 | Volume
| Issue : 1 | Page : 86-89
Un-operated transposition of the great arteries in a 31-year-old Yoruba, Nigerian woman
Olulola Olutoyin Oladapo1, Oluwatoyin Ogunkunle2, Bosede Adebayo2, Niyi Oyebowale3, Akinyemi Aje3, Moshod Adeoye3, Adewole Adebiyi3
1 Department of Anatomy; Department of Medicine, Division of Cardiovascular Medicine, College of Medicine, University of Ibadan, Ibadan, Nigeria
2 Department of Paediatrics, Division of Cardiovascular Medicine, College of Medicine, University of Ibadan, Ibadan, Nigeria
3 Department of Medicine, Division of Cardiovascular Medicine, College of Medicine, University of Ibadan, Ibadan, Nigeria
|Date of Web Publication||13-Jan-2016|
Olulola Olutoyin Oladapo
Departments of Anatomy and Medicine, Division of Cardiovascular Medicine, College of Medicine, University of Ibadan,P. O. Box 14259, Ibadan
Source of Support: None, Conflict of Interest: None
Transposition of the great arteries (TGA) is incompatible with life unless there exist shunts between the two parallel circulations. Even where shunts are present, it still remains a lethal cyanotic congenital heart disease if it is not surgically corrected soon after birth. We report the case of a 31-year-old woman with un-operated TGA who not only survived but was able to carry a pregnancy to term. This may not be unconnected with the fact that she has associated atrial and ventricular septal defects.
Keywords: Atrial and ventricular septal defects, Eisenmenger syndrome, transposition of the great arteries
|How to cite this article:|
Oladapo OO, Ogunkunle O, Adebayo B, Oyebowale N, Aje A, Adeoye M, Adebiyi A. Un-operated transposition of the great arteries in a 31-year-old Yoruba, Nigerian woman. Nig J Cardiol 2016;13:86-9
|How to cite this URL:|
Oladapo OO, Ogunkunle O, Adebayo B, Oyebowale N, Aje A, Adeoye M, Adebiyi A. Un-operated transposition of the great arteries in a 31-year-old Yoruba, Nigerian woman. Nig J Cardiol [serial online] 2016 [cited 2019 Dec 13];13:86-9. Available from: http://www.nigjcardiol.org/text.asp?2016/13/1/86/173850
| Introduction|| |
Transposition of the great arteries (TGA) is a cyanotic congenital heart disease (CCHD), which was first described by Baillie in 1797, and the term TGA was coined by Farre in 1814. It is characterized by atrioventricular concordance and ventriculoarterial discordance, which creates two parallel circulations. Unless there is mixing of blood through other associated anomalies such as atrial septal defect (ASD), ventricular septal defect (VSD), or persistent ductus arteriosus (PDA), it is lethal as it is incompatible with life. This is why corrective surgery is usually done in the neonatal period.
Here we present a case of an un-operated 31-year-old lady who was first seen in adult cardiology clinic when she was 4 months pregnant at the age of 27 years.
| Case Report|| |
We present I.L a 31-year-old woman with TGA. Her medical history dates back to infancy when she was noticed to have a bluish hue of her tongue and buccal mucosa and was small for age. She also had poor weight gain and recurrent chest infection. The father, who was a junior hospital worker, sought medical attention for her at the pediatric cardiology clinic when she developed poor effort tolerance with shortness of breath and worsening cyanosis. She was managed for recurrent congestive heart failure (CHF) for several years but could not proceed to corrective surgery due to lack of funds and access.
She is the fifth of six children, all of whom are alive and well with no history of CHD or any other congenital anomalies in any family member. Mother is a petty trader who is not a known diabetic and she denied the history of exposure to any chemicals or the usage of any drugs on a long-term basis. The history of the patient's pregnancy was said to be uneventful.
She was lost to follow-up until the pediatrician referred her at the age of 27 years to adult cardiology clinic when she was found to be 4 months pregnant. She was admitted thrice during pregnancy due to CHF and was co-managed with the obstetrician who planned for her to have an elective caesarian section. Her medications were ramipril 2.5 mg OD, warfarin 5 mg nocte, digoxin 0.125 mg OD, furosemide 40 mg BD, aldactone 25 mg OD. However, at 34 weeks gestational age, she went into spontaneous labor and delivered a normal, live male infant. Attempts to offer her birth control by tubal ligation after delivery failed as she absconded and was lost to follow-up.
The patient represented at the age of 31 years with worsening features of chronic heart failure precipitated by a chest infection. She was small looking for her age with a body mass index of 20, but she had no dysmorphic features. She was plethoric and had marked generalized cyanosis with a bluish hue of the skin and mucous membranes [Figure 1], grade four digital clubbing [Figure 2], and bilateral pitting pedal edema up to her knees. She was in sinus rhythm with tachycardia, her pulse was feeble and the blood pressure was 84/70 mmHg. Both the external and internal jugular veins were elevated and the apical impulse was displaced to the 6th left intercostal space, anterior axillary line, and was heaving. She had S3 gallop rhythm and a grade 3/6-blowing systolic murmur of mitral regurgitation at the apex. There was an early diastolic murmur of pulmonary regurgitation. Other signs included tachypnea, bilateral basal crackles, hepatomegaly, and ascites. Her SaO2 was 62% and the hematocrit was 70%.
Her transthoracic, two-dimensional echocardiography showed that the heart was rotated almost vertically with some degree of distortion making it difficult to visualize the four chambers simultaneously. The proximal portions of the great arteries ran parallel to each other rather than crossing, thus arising from the wrong ventricles. There was atrioventricular concordance with ventriculoarterial discordance. The origin of the aorta was from the morphologic right ventricle [Figure 3]. The pulmonary trunk arose posteriorly from the morphologic left ventricle (LV) and bifurcated into the right pulmonary artery and the left pulmonary artery [Figure 4]. The right ventricle was small in size with hypertrophy of its wall, considering the fact that it subs serves the systemic circulation. The right coronary artery can be seen arising from the right aortic sinus. There was moderate pulmonary valve regurgitation, and mild mitral valve regurgitation. An ostium primum ASD measuring 26 mm was present as shown in [Figure 5] and an inlet-to-outlet VSD measuring 25 mm was also present as shown in [Figure 6]. There was no PDA or left ventricular outflow tract obstruction.
|Figure 3: Echocardiography showing the aorta giving rise to the right coronary artery as it exits the right ventricle|
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|Figure 4: Echocardiography showing the pulmonary valve of the pulmonary trunk arising posteriorly from the left ventricle and its bifurcation into the right pulmonary artery and the left pulmonary artery. PE – Pericardial effusion|
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|Figure 5: Subcostal echocardiography showing the atrial septal defect. RA – Right atrium; LA – Left atrium; LV – Left ventricle|
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|Figure 6: Subcostal echocardiography showing the ventricular septal defect. MPA – Main pulmonary artery; LA – Left atrium; LV – Left ventricle|
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The working diagnosis was symptomatic polycythemia in a patient with TGA complicated by Eisenmenger syndrome, in functional New York Heart Association (NYHA) class 4 with a chest infection. She had repeated cycles of venesection done by the hematologists with clinical improvement until her hematocrit became 61%. Her antifailure regimen was also optimized, and she was treated with antibiotics for chest infection. She is being followed up on outpatient basis. Currently, she is in functional NYHA class 3. Currently, she is on digoxin, furosemide.
| Discussion|| |
The anomaly of TGA represents 5–7% of all CCHD, with an incidence of 20–30/100,000 live births. It is more common in males than in females with a ratio of approximately 2:1. In 90% of cases, TGA occurs as an isolated lesion, while the remaining 10% may be associated with other anomalies such as VSD, left ventricular outflow obstruction, and extra-cardiac lesions. It is the most frequently diagnosed CCHD in neonates and is considered a neonatal cardiac surgical emergency. Surgically uncorrected TGA is lethal with 30% of neonates dying in the 1st week of life and 90% in the 1st year, with an average life expectancy of 9 months. The longest life expectancy of un-operated TGA that we saw in literature was in an 11-year-old girl.
This case report is unique in that, it shows a relatively long survival in our patient who did not have palliative or corrective surgery, albeit with a poor quality of life. The presence of an ASD and a VSD must have caused sufficient mixing of blood in the two parallel circuits for her to have survived this long. It was also contributory to her development of progressive cyanosis and CHF in infancy. The mild pulmonary hypertension she had is unusual because most infants develop the pulmonary vascular obstructive disease early.
Like most cases of TGA, the etiology is unknown in our patient. Her mother was not a known diabetic, nor was she on any drugs such as antiepileptic, and the pregnancy was uneventful.
The age of our patient, the presence of chronic CHF, Eisenmenger syndrome, and symptomatic polycythemia preclude corrective surgery at this stage. The low pressure in the LV will not be able to pump blood to serve the high pressure of systemic circulation if an arterial switch operation is performed in her. By the same token, the Senning or Mustard procedure of switch at the atrial level is not recommended in her. The pulmonary vascular resistance would also preclude a Rastelli intracardiac repair, as it would increase her morbidity and mortality. These surgeries are usually performed within the first 4 weeks of life soon after the initial diagnosis is made.
Long-term survival of infants with TGA before the advent of palliative and later on corrective surgery was poor. The average life expectancy at that time was 0.65 years for a newborn and the mortality rate at 1 year was 89.3%. It is remarkable that our patient lived into her thirties. Long-term survival and cardiovascular outcomes after an arterial switch operation was about 97% at 25 years. In a study on the long-term morbidity and quality of life after surgical repair of TGA, the survival rates after atrial switch operation at 10, 15, 20, and 25 years were 90, 88, 85, and 78%, respectively. In comparison, survival after arterial switch remained at 86% after 5.5 years, postoperatively. The quality of life was found not to be significantly different in the two groups and was also similar to that of a normal population. Postsurgical correction, the majority of patients were in NYHA class 1 whereas our patient was in class 3/4. Early detection and affordability would have availed her opportunity of an arterial switch with a closure of the defects. Late presentations in the infantile period may benefit from the atrial switch. The presence of severe pulmonary hypertension in her precludes surgical correction. She was unable to achieve a normal level of education and employment. Although she had a successful pregnancy, she could not manage motherhood successfully and had to give the baby to her mother for care.
Corrective surgery is not only necessary for congenital heart diseases, it is most desirable that it should be in time. Several factors are responsible for patients not getting surgery, and these include a delay in presentation and diagnosis, lack of infrastructure, and expertise as well as lack of funds even when options exist. Therefore, surgical correction early in life still remains the best choice that ensures a better quality of life.
There is a paucity of data on adult congenital heart diseases in Nigerians. The few studies that are available report it as part of the spectrum of heart diseases seen in adults, without in-depth description. They indicate that it is a relatively rare condition as shown in the audit of echocardiographic services of some tertiary hospitals where a rate of 0.3% and 0.6% were found. The more common form diagnosed was VSD. It could not be ascertained whether palliative or corrective surgeries were carried out in any of the series.
| Conclusion|| |
The case report of this un-operated Yoruba woman with TGA shows a long-term survival similar to those who had corrective surgery and she was able to carry her pregnancy successfully. The difference is that she has a poorer quality of life than patients who had corrective surgery in infancy. Therefore, surgical correction early in life still remains the best choice that ensures a better quality of life. Despite being in sinus rhythm, the risk of sudden death is high and in patients with TGA, it is usually due to arrhythmias.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]