|Year : 2015 | Volume
| Issue : 2 | Page : 148-150
A rare form of presentation of truncus arteriosus in adult
Deepesh Venkatraman, Monika Bhandari, Tanmay Mukhopadhyay, Biswajit Majumder, Debabrata Bera
Department of Cardiology, Radha Gobinda Kar Medical College, Kolkata, West Bengal, India
|Date of Web Publication||30-Jul-2015|
IA - 112, Sector - 3, Salt Lake, Kolkata -700 097, West Bengal
Source of Support: None, Conflict of Interest: None
Truncus arteriosus is a rare congenital heart disease with average survival up to 5 weeks, and unrepaired truncus cases surviving into adulthood are very few. For these reasons, the natural history of the unrepaired defect is not very well-known, and is backed by only a handful of such cases that are reported. We report this very rare case of adult survival of an uncorrected truncus arteriosus, with certain aspects of presentation unique and insightful with regards to its natural history.
Keywords: Adult bicuspid unrepaired truncus arteriosus, congenital heart disease, natural history of the unrepaired truncus arteriosus, truncus, truncus arteriosus, truncal valve stenosis
|How to cite this article:|
Venkatraman D, Bhandari M, Mukhopadhyay T, Majumder B, Bera D. A rare form of presentation of truncus arteriosus in adult. Nig J Cardiol 2015;12:148-50
| Introduction|| |
Truncus arteriosus is an admixture lesion which usually presents early after birth, as a high pulmonary flow cyanotic congenital heart disease. Out of the subtypes of truncus arteriosus, a higher blood flow through pulmonary circulation leads to an early mortality from heart failure, thus explaining the particularly poorer outcomes in types I, II, III wherein 80% of the babies do not survie beyond the infancy, while the type IV with low pulmonary blood flow leads to a comparatively longer survival. Due to such poorer outlook among the types 1-3, very little is known on their natural unrepaired course, prognosis, and reasons for extended survival in the rare subgroup who manage to do so. ,, Here, we report a rare form of presentation of type I truncus arteriosus, who has survived without any repair, and the possible reason postulated to be quite distinct from what has been reported in the previous precedence in such case reports.
| Case report|| |
This 18-year-old married female patient presented with history of poor exercise tolerance and history of recurrent respiratory tract infection starting from 10 th day of life, which decreased in frequency as she grew older. She gave no history of apparent cyanosis, transient loss of consciousness, cyanotic spells, or squatting. She had two younger siblings, who were apparantly healthy, and she had no children of her own till date. She was diagnosed to have a cardiac ailment from early infancy and has been evaluated at various centers and treated without any sustained improvement, before finally being referred to our hospital 2 months prior to this communication.
The patient was of normal build with a body mass index (BMI), of 17.5, had symmetrical cyanosis and pan digital grade 3 clubbing. She was normotensive, with collapsing pulses, with normal Jugular Venous Pressure. Cardiac examination revealed downwardly shifted apical impulse, hyperdynamic in character. Her first and second sounds were normal in intensity. There were no added sounds. There was a high pitched long early diastolic murmur loudest in the left 3 rd intercostal space along the left parasternal border. In addition, a grade 2/6 Ejection Systolic Murmur was heard in the left second intercostals space. With a clinical picture of cyanotic congenital heart disease, with high pulmonary blood flow, we proceeded with the definitive tests.
Electrocardiography had features of Normal Sinus Rhythm, Right Ventricular Hypertrophy, Left Atrial abnormality, and clockwise depolarization. X-ray chest was suggestive of increased cardiothoracic ratio with increased vascular markings having peripheral pruning [Figure 1]. Echocardiography had evidence of situs solitus, Left Ventricular Hypertrophy, and Right Ventricular Hypertrophy, with borderline cavity size, and an enlarged left atrium. Though there was atrioventricular concordance, the great arteries had a parallel arrangement. They both were arising of a large common trunk, which gave rise to a sweeping aorta and a main pulmonary trunk that was shown to be dividing into two normal caliber vessels, the right and left pulmonary artery [Figure 2]. There was a large dysplastic thickened, bicuspid valve guarding the opening of the common trunk into the ventricles. The valve had shown moderate truncal regurgitation and had a significant systolic peak gradient of 52 mm of Hg across it [Figure 3]. Echo also showed a large sub-arterial ventricular septal defect (VSD) with bidirectional shunt [Figure 4]. Supra sternal view showed that the patient had a left-sided aortic arch with no interruption.
|Figure 1: X-ray chest posterior-anterior (PA) view showing increased lung vascularity with peripheral pruning in the outer 1/3rd|
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|Figure 2: Modified parasternal short axis view showing the common arterial trunk, dividing further into two great arteries suggestive of Collett and Edwards type I Truncal Morphology. Also shows a dysplastic truncal valve|
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|Figure 3: Apical 5-chamber view with continuous wave Doppler, showing truncal stenosis and regurgitation|
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|Figure 4: Modified apical 5-chamber view showing the large perimembranous VSD along with dysplastic truncal valve|
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Limited cathetrization study (without oximetry) was performed, confirming the anatomical relationships, as was found in echocardiography with the pulmonary vascular resistance of 5 woods unit. Patient was referred to the cardiothoracic department of another tertiary care hospital in the state for feasability of any corrective surgery and no further follow-up information is available with the authors subsequent to that.
| Discussion|| |
Truncus arteriosus is a rare congenital heart disease occurring in 0.7% of such patients, most of the patients die within 5 weeks to 6 months. Survival into adulthood is rare with longest surviving case reported at 7 th decade.  As previously mentioned, the survival is further infrequent in the collet types 1-3 where in the blood supply in the initial phase of life is high. Due to the rarity of these patients' survival till adulthood without surgery, the natural history of this disease is not well-known. In the largest series of truncus cases reported by Marcellettiand Mcgoon, there were very few who survived into adulthood, and those who did, were very symptomatic.  Our case is unique in terms of it being one of the few cases of unrepaired collet type I truncus arteriosus surviving to adulthood without much symptoms and morbidity.
On further analysis, we have hypothesized that probably the distinction is because of the truncal valve anatomy. The truncal valve anomaly is commonly associated with truncus arteriosus, the valve being tricuspid in 33%, bicuspid in 21%, and quadricuspid in a few.  But no reported case, as far as our research revealed, has been shown to have anadult unrepaired truncus arteriosus with a bicuspid stenotic truncal valve. The truncal valve in our case was dysplastic, thickened, bicuspid with significant gradient across it, suggestive of significant truncal valve stenosis. It was shown to be associated with moderate truncal regurgitation in addition, which is a common occurrence in truncus arteriosus.
So, it is prudent for us to conclude that our case throws some light on the natural history of this rare entity into adulthood, with a relatively early onset of truncal valve stenosis. It is difficult to assume with certainty whether this stenosis developed over the course of time or had been present since birth as we had no significant clinical clue or a previous investigation to resolve the issue. It also brings on the possibility of a longer survival attributable to the presence of a protective proximal stenosis at the level of truncal valve in addition to progressively increasing pulmonary resistance. Majority of the previous case reports highlighting an adult survival of truncus arterious have found aincreased pulmonary vascular resistance alone, as the possible safeguard, adding rarity to this case.
| References|| |
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]