Persistent left superior vena cava discovered during central line insertion in a patient with Joubert syndrome: a case report

Abstract

Background

Persistent left superior vena cava is the most common thoracic venous anomaly. It is usually asymptomatic and discovered incidentally during diagnostic or therapeutic interventions. It can complicate central line insertion, causing arrythmias and thromboembolic complications. Joubert syndrome and related disorders are a group of rare congenital disorders associated with developmental abnormalities and multiple organ system involvement including renal, hepatic, and neurological manifestations.

Case presentation

We report a case of a 12-year-old Kuwaiti Arab male child with Joubert syndrome, who was diagnosed with renal and hepatic failure and required central line insertion to initiate total parenteral nutrition. The central line was inserted through the left internal jugular vein because the patient had a dialysis catheter inserted in the right subclavian vein. After the line insertion, a chest X-ray revealed that the catheter appeared to descend directly into the left mediastinum rather than crossing to the right mediastinum through the innominate vein. Blood gas sample and subsequent echocardiography confirmed the presence of the catheter in a persistent left superior vena cava. The catheter was kept in place and used without complication for total parenteral nutrition and resuscitation for 18 days.

Conclusion

Although persistent left superior vena cava is a rare anomaly, knowledge of its presence is important for the clinician in order to avoid complications associated with utilizing it for venous access, and to avoid unnecessary replacement for an uncomplicated catheter inserted in it. This is especially important for patients who would be expected to require invasive interventions, such as patients with Joubert syndrome.

Background

Persistent left superior vena cava (PLSVC) is the most common thoracic venous anomaly, with incidence ranging from 0.3% to 0.5% in the general population [1–3]. It arises from the junction between the left internal jugular vein and the left subclavian vein and passes through the left mediastinum, usually draining in the right atrium through the coronary sinus. It develops embryologically when the left common cardinal vein and the caudal part of the left superior cardinal vein fail to regress due to a variety of factors [2, 4]. It can be present either isolated or as a part of a more complex cardiac pathology [3]. This anomaly is usually asymptomatic and discovered incidentally during diagnostic or therapeutic interventions. However, in some instances it can cause significant problems such as arrhythmias and cyanosis [5]. Depending on the drainage site and the accompanying cardiac anomalies, PLSVC can have significant clinical implications. Although this anomaly is present most commonly in isolation, some other anomalies are reported to be associated with it. Among these are shunt lesions, cono-truncal malformations, left-sided obstructive lesions, right-sided lesions, single ventricular anomalies, and aortic arch anomalies [6]. Even though PLSVC syndrome is mostly asymptomatic, it can have important clinical implications during diagnostic and therapeutic interventions, such as central venous procedures and cardiac and vascular interventions [7]. In fact, multiple case studies demonstrate that many cases of PLSCVC were discovered incidentally during insertion of a central line into the left internal jugular or subclavian veins [8–19].

Joubert syndrome (JS) and related disorders are a group of rare congenital disorders associated with developmental abnormalities [20, 21]. The hallmark of these disorders is the “molar tooth sign,” which is a midbrain–hindbrain malformation visible on axial brain imaging [21, 22]. This malformation results from abnormal development of the cerebellar vermis and peduncles [23]. Joubert syndrome and related disorders are classified into distinct subgroups of disorders on the basis of other system involvement as well as genetic mutation correlation [24–26]. The main clinical features of these disorders are neurological, with hypotonia, ataxia, developmental delay, and intellectual disability being the most common of these features [24]. In addition, many neonates exhibit abnormal breathing patterns and abnormal ocular movements [21, 23]. Nonetheless, there are usually other organ system involvements, including renal, ocular, hepatic, and skeletal abnormalities [23]. The main renal abnormalities include congenital tubulointerstitial nephritis and fibrosis, while the main hepatic feature is congenital hepatic fibrosis [27]. Some patients also present with skeletal abnormalities in the form of polydactyly [20]. The diagnosis of Joubert syndrome and related disorders in all suspected children is made by the confirmation of the presence of the characteristic “molar tooth sign” on brain axial magnetic resonance imaging (MRI). Once the diagnosis has been established, children undergo other investigations to assess the possible involvement of other organ systems [20].

There is paucity of reports in the literature demonstrating the association between Joubert syndrome and PLSVC [28]. We report a case of a child with Joubert syndrome, in which PLSVC was accidentally discovered during central line insertion.

Case presentation

A 12-year-old Kuwaiti Arab boy, with an established diagnosis of Joubert syndrome was admitted to our hospital pediatric ICU (PICU). The patient had an advanced course of Joubert syndrome complicated by chronic liver failure and renal failure requiring hemodialysis. The reason for admission was sepsis that was suspected to be due to an intra-abdominal infection. The patient was undergoing dialysis through a right subclavian inserted permcath. The patient’s hospital stay was complicated by thrombocytopenia and elevated liver enzymes. He was not tolerating nasogastric tube enteral feeding and a surgical opinion was sought. The surgical team suspected bowel obstruction secondary to ileus and recommended starting the patient on total parenteral nutrition (TPN) to meet the metabolic needs. The patient was referred to the anesthesia service in the hospital to assist in inserting a central venous line to start TPN. After the patient condition was assessed by the anesthesiologist and consent was taken from the parents, a decision was made to insert a central line through the left internal jugular vein, in order to avoid damaging the permcath dialysis catheter that was present on the right side.

The procedure was done under strict aseptic conditions, with the patient fully draped. Under ultrasound guidance, the left internal jugular vein was identified and punctured with a 22-gauge needle. A flexible guide wire was threaded through the needle. An 8 cm, 5-French triple lumen central venous catheter was then threaded over the wire. After confirming adequate backflow of blood from all the line lumens, the line was sutured in place. After the procedure was completed, a chest X-ray was requested to confirm the position of the central line tip and to rule out accidental pneumothorax. The chest X-ray revealed an abnormal trajectory of the central venous catheter (Fig. 1). The catheter appeared to descend directly into the left mediastinum rather than crossing to the right mediastinum through the innominate vein, as would be expected in normal conditions. A blood gas sample was acquired and compared with an arterial gas sample to exclude the possibility of arterial insertion; the blood gas sample confirmed that the insertion was indeed venous. After discussion with the pediatric intensivist involved in the care of the patient, and due to the difficulty and risk of obtaining another central venous access, it was decided to utilize this catheter, which is assumed to be in a PLSVC, for TPN.

Fig. 1.

Chest radiograph of the patient. Arrow indicates abnormal position of the catheter tip in the left mediastinum

Upon regular follow-up in the following 18 days, there appeared to be no complications associated with the catheter, such as thrombosis, infection, or arrythmias. The catheter was used successfully to commence and maintain TPN during the patient’s hospital stay, and later for resuscitation.

Unfortunately, the patient’s condition deteriorated, and he succumbed to refractory septic shock afterward. A transthoracic echocardiography was later performed and suggested that the venous anomaly was mostly a PLSVC, although the drainage site was not clearly visualized owing to poor window of visualization. The echocardiography also excluded the presence of other cardiac anomalies. Owing to the patient’s critical condition during the hospital stay, no invasive confirmatory imaging studies were conducted to assess the exact anatomy of the venous anomaly.

Discussion

Persistent left superior vena cava (PLSVC) is one of the most common thoracic vascular anomalies. In more than 80% of cases, it co-exists with a right superior vena cava [2, 29]. Because it is mostly asymptomatic, it is rarely detected, and some patients go into late adulthood before it is incidentally discovered. Most of these anomalies are discovered during central venous access insertion [9, 30], as in our case. In fact, because most of invasive venous lines are usually inserted in the right side, this anomaly is often even missed during vascular interventions.

While this anomaly is mostly asymptomatic, vascular interventions in this vessel could lead to complications depending on the drainage site. As most of these anomalies drain into the right atrium through the coronary sinus, some reported complications associated with vascular access through this site include arrythmias, thrombosis, and venous injury [2, 9, 30]. While these complications can happen, it is considered safe to use a catheter inserted into the PLSVC to administer medications and fluids. It has also been reported that dialysis catheters inserted into PLSCVC were used safely [8, 14, 18, 29].

Central venous access is an invasive procedure that is sometimes necessary to initiate resuscitation, administer certain medications, and, as in our case, start total parenteral nutrition. While the rate of complications during central line insertion has declined dramatically after the introduction of ultrasound, some complications still occur [31]. It is therefore important for the clinician to assess the proper positioning of the central line and exclude the presence of any complications before starting the use of such line. Knowledge of the different anatomical variations in the venous structures, especially in the pediatric population, is important during vascular access procedures. For instance, it is important to assess the possible complications that might arise from venous access into an anomalous vein such as PLSVC, promptly recognize these complications, and remove the line if such complications happen [3, 32]. However, knowledge of this anatomy, and knowledge that most catheters inserted into PLSVC can be used safely would help avoid any confusion, and avoid repeating the unnecessary procedure of obtaining another central venous access to the patient in a different location [14, 30]. In our case, for example, it was decided that due to the lack of another safe location to obtain a central venous access, it was appropriate to keep this venous line and use it for TPN and resuscitation should the need arise; therefore, we avoided subjecting our patient to another invasive procedure to obtain another central line.

The differential diagnosis for the left sided vascular venous anomaly, such as in our case, include vertical vein, levoatriocardinal vein, left superior intercostal vein, aberrant left brachiocephalic vein, pericardiophrenic vein, and vascular structures secondary to surgery [1, 2, 30, 32]. The gold standard test for diagnosis of PLSVC is computed tomography (CT) angiography [1, 2]. While this test was not performed in our patient, we have little reason to believe that the anomaly in our patient was one of the other differential diagnoses because of the echocardiography findings, and the typical course of such anomaly that was present in our patient’s chest X-ray.

Children with Joubert syndrome have multiple system involvement and will almost certainly have an encounter with the healthcare system during their course of the disease. As many of these patients develop renal failure requiring dialysis, it is important to know that these patients might have an abnormal venous anatomy, such as in our patient, when attempting to get an invasive vascular access for dialysis of other indications [20, 23, 27]. While the presence of this venous anomaly (PLSVC) in patients with Joubert syndrome was rarely reported in the literature, it is not a classic feature reported in texts that describe Joubert syndrome and related disorders. This case report highlights that PLSVC should be considered in such patients, and care should be taken while performing invasive vascular procedures on them.

Conclusion

PLSVC is one of the most common vascular anomalies in the chest. It is often diagnosed incidentally after vascular procedures such as central venous line insertion. Central line insertion in this anomalous vein can lead to some complications. Patients with Joubert syndrome have a wide array of organ system involvement, the management of which might necessitate the need for central venous line insertion. While not commonly reported in such patients, PLSVC should be considered when inserting central lines in this group of patients. Most of the time, the line inserted can be used safely, as we managed to do in our patient for 18 days.

Abbreviations

PLSVC

Persistent left superior vena cava

JS

Joubert syndrome

PICU

Pediatric intensive care unit

Author contributions

Mohammed Ismail Mohammed Heyba: gathering material and preparation and writing of the manuscript. Mohmed Rabie Mohamed Ali Gadelrab: primary clinician involved in the patient procedure and reviewed the manuscript. Waleed Al-Araby Ahmed: specialist in charge of patient care, supervised the procedure and reviewed the manuscript.

Funding

This report did not receive any funding.

Availability of data and materials

All clinical data and related imaging studies results are available in Ibn Sina Hospital Records section.

Declarations

Ethics approval and consent to participate

This case report was waived by the ethical and quality committee in Ibn Sina Hospital, a division of the ethical and quality committee in the Ministry of Health in Kuwait.

Consent for publication

Written informed consent was obtained from the patient’s legal guardian for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.

Competing interests

The authors have no conflict of interest to declare.