Tetralogy of Fallot Presenting with Superior Vena Cava Syndrome – A Rare Presentation

Abstract

Tetralogy of Fallot (TOF) presenting with superior vena cava (SVC) syndrome is an exceedingly rare scenario. The diagnosis of this condition is still a difficult task due to its unspecific clinical features and unclear recommendations for the best diagnostic tools. We report an interesting case of a 23-year-old male who was found to have TOF with the presentation of SVC syndrome after a sequential diagnosis. The timely diagnosis helped in the successful management of the patient. Through this case, we want to make clinicians aware of such a rare association and its diagnosis.

INTRODUCTION

Tetralogy of Fallot (TOF) is the most common congenital cyanotic heart disease.[1] Superior vena cava (SVC) syndrome was first described by William Hunter in a patient with a syphilitic aortic aneurysm in 1757. SVC syndrome in the younger age group is mostly due to neoplastic etiology.[2]

We hereby report a rare clinical scenario of TOF presenting with SVC syndrome.

CASE PRESENTATION

A 23-year-old male presented to the emergency department with progressive swelling of the face and respiratory distress for 10 days, associated with high-grade intermittent fever with chills and rigor, headache, and dysuria. He denied any vigorous coughing, altered urine volume, skin rash, painful swollen joints, vomiting, neck pain, altered visual acuity, history of recent travel, or any recent intake of medication.

He suffered from heart disease since childhood but he lost follow-up for a prolonged period. He had dyspnea on exertion since childhood. He turned blue while crying or feeding in early childhood with the subsequent history of typical squatting to get relief from dyspnea on exertion.

On the physical examination, he was febrile, pulse rate was 110/min, blood pressure was 110/70 mmHg (in both arms), and respiratory rate was 22/min. He had facial plethora, central cyanosis [Figure 1a], and Grade 3 clubbing [Figure 1b] with facial puffiness along with bilateral upper limb edema (right > left) [Figure 1c], engorged neck veins with indistinct nonpulsatile jugular venous pressure wave patterns, and prominent veins over the chest [Figure 1d] with the downward predominant flow. There was no lymphadenopathy and normal fundoscopy.

Figure 1.

The patient presented with the manifestation of (a) facial plethora and central cyanosis, (b) clubbing (Grade 3), (c) bilateral upper limb edema, (d) engorged neck veins with indistinct nonpulsatile JVP wave pressure. JVP: Jugular venous pressure

Examination of the cardiorespiratory system revealed poorly localized apex, systolic thrill at the left mid-upper sternal border, no parasternal lift, S1 normal, S2 single, Grade 4/6 harsh ejection systolic murmur at the left mid-upper sternal border, and normal bilateral vesicular breath sounds. There was no abdominal organomegaly, neither there was any focal neurologic deficit nor any sign of meningeal irritation. Based on the aforementioned findings, the provisional diagnosis of TOF with the presentation of SVC syndrome and urinary tract infection was made.

Laboratory findings

Baseline investigations showed hemoglobin 22.2 g/dl, total leukocyte count 6300/cc (neutrophil predominant), platelet count 1.1 lac, mean corpuscular volume 97.3 fL, and packed cell volume 68%. Blood sugar, lipid profile, liver function test, and renal profile with electrolytes were normal. Elevated levels of serum uric acid were found (8.4 mg/dl). He was seronegative for human immunodeficiency virus and hepatitis B and C virus. Prothrombin time and international normalized ratio (INR) and activated partial thromboplastin clotting time both were normal.

Chest X-ray [Figure 2] showed a mild increase in cardiothoracic ratio with normal pulmonary vasculature markings. Electrocardiography demonstrated sinus tachycardia with right axis deviation with possible left atrial enlargement and right ventricle hypertrophy [Figure 3].

Figure 2.

Chest X-ray showing a mild increase in cardiothoracic ratio with normal pulmonary vasculature markings

Figure 3.

Electrocardiography showing sinus tachycardia with right axis deviation with possible left atrial enlargement and right ventricle hypertrophy

Urine examination showed urine protein (3+), pus cells 10–12/high-power field of microscope (HPF), epithelial cells 4/6 hpf, abundant red blood cells, and no casts/crystals. No bacterial growth was detected over 72 h in the urine culture test.

Echocardiography with Doppler [Figure 4] confirmed the diagnosis of TOF with infundibular right ventricular outflow tract obstruction with confluent pulmonary arteries.

Figure 4.

Echocardiography showing tetralogy of Fallot with infundibular right ventricular outflow tract obstruction with confluent pulmonary arteries. RV: Right ventricle, LV: Left ventricle, IVS: Interventricular septum, AO: Aorta

Contrast-enhanced computerized tomography thorax [Figure 5] revealed a thrombus in the right internal jugular vein extending into SVC. The computerized tomography brain was normal. Ultimately, the confirmed diagnosis of SVC syndrome due to intravascular thrombosis along with TOF and urinary tract infection was made.

Figure 5.

Contrast-enhanced computerized tomography thorax showing thrombus in the right internal jugular vein (red arrow) extending into superior vena cava syndrome.

Management

The patient received intravenous normal saline to maintain hydration, piperacillin and tazobactam combination (4.5 g three times daily for 7 days), iron supplementation, paracetamol, and unfractionated heparin injection (5000 units [TDS] for 7 days). Phlebotomy was done. The patient became afebrile within 3 days, and he was discharged in stable clinical condition after 10 days of admission. Warfarin was initiated during the hospital stay and stopped after 3 months; INR was kept between 2 and 3. The follow-up was uneventful.

DISCUSSION

SVC syndrome in a young patient is uncommon even in tertiary care hospitals. Common causes of SVC syndrome in the young are lymphoma, germ cell carcinoma, and testicular carcinoma with metastasis.[3]

The intravascular type of SVC syndrome is characterized by fewer collaterals, more headaches and symptoms of the central nervous system, fewer local obstruction symptoms (e.g., dyspnea/stridor/dysphagia/pain), and no widening of the mediastinum. A steroid is not as effective in intravascular SVC syndrome as the extravascular type.[4] Although worldwide the most common cause of SVC syndrome is neoplastic, the incidence of SVC syndrome due to central venous lines or implanted cardiac electronic devices is gradually increasing.[2]

This case is clinically unique because here SVC syndrome is associated with a cardiac murmur, central cyanosis, and clubbing. Moreover, the presence of facial plethora and headache in TOF made the diagnosis of intravascular type SVC syndrome more challenging.

Patients of cyanotic congenital heart disease (e.g., TOF) are prone to infection (e.g., septic arthritis, pneumonia, and urinary tract infection) as well as to thrombophilia (e.g., cerebral sinus thrombosis and pulmonary thromboembolism).[5] Any infection raises the possibility of thrombophilia in such patients.

There is no definite recommendation for the duration of anticoagulant use in a similar clinical scenario. Although TOF is the most common congenital cyanotic heart disease, TOF presenting with SVC syndrome is extremely rare.[1,6] Detailed clinical evaluation and focused investigations helped us in establishing the diagnosis.

CONCLUSION

This case report highlights an interesting case of TOF presenting with SVC syndrome. Thorough clinical assessment and focused investigations can be highly rewarding in establishing the diagnosis of such a rare condition.

Declaration of patient consent

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.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.