Correspondence Address: Rakesh Koranchery Department of Cardiology, Government Medical College, Kozhikode - 673 008, Kerala India
Source of Support: None, Conflict of Interest: None
Anomalous origin of a pulmonary artery (PA) from the aorta is a rare presentation in adulthood. As these patients invariably develop severe pulmonary hypertension in infancy itself, prognosis is poor. Here, we present a patient with anomalous origin of right PA from the aorta and congenital tricuspid valve anomaly with severe tricuspid regurgitation, a very rare combination surviving to adult life.
How to cite this article: Koranchery R, Rajesh GN. A rare combination of anomalous origin of right pulmonary artery from the ascending aorta with congenital tricuspid valve anomaly and severe tricuspid regurgitation. J Indian Acad Echocardiogr Cardiovasc Imaging 2019;3:93-6
How to cite this URL: Koranchery R, Rajesh GN. A rare combination of anomalous origin of right pulmonary artery from the ascending aorta with congenital tricuspid valve anomaly and severe tricuspid regurgitation. J Indian Acad Echocardiogr Cardiovasc Imaging [serial online] 2019 [cited 2022 Jan 18];3:93-6. Available from: https://www.jiaecho.org/text.asp?2019/3/2/93/265757
Anomalous origin of a pulmonary artery from the aorta (AOPA) was first reported by Fraentzel in 1868. Ever since that, the entity is infrequently reported. It is a rare presentation in infancy and has high mortality without definitive corrective surgery in the neonatal period. If identified promptly and corrective surgery done, very good survival is reported. The main pathophysiology is very early development of pulmonary artery (PA) hypertension due to left-to-right shunt in one lung and reception of total systemic venous return to the other lung. Without corrective surgery, the 1st-year mortality is 70%. This anomaly was previously known as hemitruncus. Embryologically, this anomaly is not similar to truncus arteriosus, and hence, a better terminology than hemitruncus would be AOPA and this is the preferred term now. Survival of such patients to adulthood is very rare. Here, we report an adult patient with AOPA and congenital anomaly of tricuspid valve with severe tricuspid regurgitation (TR). To the best of our knowledge, there is only one case reported with this combination of AOPA and tricuspid valve anomaly in a case series from India.
A 28-year-old female, who was relatively asymptomatic during childhood, now presented with class-II dyspnea on exertion and cyanosis for the past 2 years. On further inquiry, it was revealed that in the neonatal period, she was diagnosed to have congenital heart disease and was advised surgery but deferred then and thereafter lost to follow-up. She had no history of cyanosis and heart failure in infancy and had normal growth and development. There was no history of hemoptysis, cerebrovascular accident or transient ischemic attacks, and hyperviscosity symptoms in the past.
On examination, she had symmetrical central cyanosis and clubbing. Her arterial oxygen saturation was 78% in all four limbs. Pulse rate was 78/min and regular, blood pressure was normal in all limbs, and mean jugular venous pressure (JVP) was normal. On precordial examination, the apex was ill localized and right ventricular type. There were no epigastric impulse, left parasternal heave, and a palpable second heart sound. On auscultation, the first heart sound was split and the second heart sound also had a wide fixed split. There was a right ventricular S3. There was a 2/6 pansystolic murmur over the left sternal border that was increasing on passive leg raising and on inspiration.
After a thorough history and clinical evaluation, provisional diagnosis was congenital cyanotic heart disease, probably Ebstein's anomaly of tricuspid valve with TR. On echocardiography, the right atrium and right ventricle (RV) were significantly dilated; the tricuspid valve was abnormal, noncoapting with severe nonhypertensive TR. The septal leaflet of tricuspid valve was not displaced apically, and the anterior tricuspid leaflet was not large enough to suggest Ebstein's anomaly. However, the leaflet appeared slightly thickened and noncoapting [[Figure 1], [Figure 2], [Figure 3] and Videos 1, 2]. There was evidence for right ventricular dysfunction as evidenced by tricuspid annular plane systolic excursion of 14. There was a 15-mm ostium secundum (OS) atrial septal defect (ASD) detected in the subcostal view [Figure 4]. The parasternal short-axis view did not show a confluent branch PA. On modified short-axis view, the main PA (MPA) was seen continuing as left PA (LPA), and on color Doppler, absent flow was seen in the right PA (RPA) direction. On modified suprasternal view, an abnormal branch was seen arising from the ascending aorta posteriorly, which was further confirmed as the RPA by cardiac catheterization [[Figure 5], [Figure 6], [Figure 7], [Figure 8] and Videos 3, 4]. In cath study, the RPA was not seen from main pulmonary trunk and was seen arising as the first branch of ascending aorta posteriorly. The right ventricular pressure was 44/13 mmHg, and there were no features of atrialization of right ventricular pressure tracing. LPA pressure was 42/26 mmHg. The retrograde cannulation of RPA showed systemic pressure. Oximetry study showed right-to-left shunt at atrial level [Table 1].
Figure 1: Apical four-chamber view showing dilated right atrium and right ventricle. The tricuspid leaflet appears slightly thickened and noncoapting
The final diagnosis was congenital cyanotic heart disease, RPA arising from ascending aorta, congenital tricuspid valve anomaly – noncoapting tricuspid valve with severe TR, right ventricular dysfunction, and ASD with right-to-left shunt. The case was discussed with the heart team in our institution as well as experts from the outside institutions. The proposed corrective surgery was expected to have high risk due to severe pulmonary arterial hypertension in the right lung and RV dysfunction. The patient and bystanders were not keen on high-risk surgery, hence deferred.
AOPA is a rare presentation in adults as described earlier in the introduction. The largest case series of AOPA in children was reported from India, in which surgical repair was done in 16 cases with good long-term survival. In the neonate, the usual presentation is with congestive cardiac failure, and usually, echo would be reported normal or as isolated pulmonary hypertension if not associated with other structural anomalies, as it is difficult to demonstrate AOPA in routine neonatal echocardiography. Unless further imaging (Computer tomography/cardiac magnetic resonance imaging) is not carried out, correct diagnosis would be missed., Hence, a high index of suspicion is necessary for appropriate clinical context for accurate diagnosis of this surgically correctable anomaly.
Embryologically, anomalous origin of RPA from the aorta results from a delay or abnormal migration of the sixth right aortic arch to the left side. Pluripotent neural crest cells also play a role in the development of this anomaly. Anomalous origin of the RPA from the aorta is 4–8 times more common than anomalous origin of LPA from aorta. Failure of fusion of the LPA to MPA, due to the absence of the left sixth arch, results in connection of LPA to aorta. Anomalous origin of LPA is often associated with the right aortic arch. AOPA is associated with patent ductus arteriosis (PDA), venticular septal defect (VSD), tetralogy of Fallot, interrupted aortic arch, aortopulmonary window, and isthmic hypoplasia.
In AOPA, the lung connected to the normally arising PA receives the entire cardiac output from the RV, while the other lung is exposed to systemic pressure. Basically, there are left-to-right shunt physiology (aorta to PA) and early development of severe pulmonary hypertension. The early development of pulmonary hypertension is believed to be due to volume overload to the one lung and possible origin of vasoconstrictive substances from other lung which faces systemic arterial pressure., In adult, treatment options are few; palliative PA banding can be done if there is intractable hemoptysis or else both lung transplantation may be tried.,
In our case, the survival up to 28 years with relatively mild symptom is difficult to explain. Probably, the severe tricuspid valve regurgitation and right ventricular dysfunction may be the reasons for the mild degree of pulmonary hypertension in LPA although the RPA pressure was systemic. The aneurysmal right atrium may be protecting the patient from consequences of severe TR. According to experts, the hemodynamic data and differential pulmonary venous resistance index calculation in this particular patient may be highly erroneous and noncontributory. The corrective surgery possible in this patient may be reimplantation of RPA to MPA, ASD closure with or without fenestration, and tricuspid annuloplasty/bioprosthetic valve implantation for severe TR, but the combination of RV dysfunction and high-RPA pressure might result an unpredictable postoperative outcome. Otherwise, the right hemi-pneumonectomy with or without transplant and intracardiac repair was the next option., However, the patient and bystanders opted for medical management after explaining the high-risk surgical treatment plan.
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The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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