Cardiac tamponade with scleroderma renal crisis in systemic sclerosis: a case report

Abstract

Introduction and importance:

Systemic sclerosis (SSc) is a rare autoimmune disease characterized by fibrosis of internal organs and vasculopathy. It commonly involves the skin and multiple organs, including the kidneys and cardiovascular system. Cardiac tamponade in SSc is an uncommon manifestation, often occurring alongside scleroderma renal crisis (SRC).

Case presentation:

A 50-year-old woman presented with sudden shortness of breath, chest pain, and reduced urine output. Diagnostic tests revealed a large pericardial effusion leading to cardiac tamponade, acute kidney injury, and microangiopathic hemolytic anemia. Clinical assessment and immunological testing confirmed the diagnosis of systemic sclerosis. The patient received pericardiocentesis, hemodialysis, and was treated with diuretics and angiotensin-converting enzyme inhibitors (ACEIs).

Discussion:

Pericardial effusion is frequently seen in SSc, but it is difficult to determine whether it directly contributes to or results from SRC. Early diagnosis and the use of ACEIs have shown promising benefits in managing SRC.

Conclusion:

This case underscores the rare yet critical presentation of SSc with concurrent cardiac tamponade and SRC, emphasizing the importance of early diagnosis and multidisciplinary management.

Introduction

Systemic sclerosis (SSc) is a chronic autoimmune disease characterized by fibrosis of the skin and various internal organs, along with vascular abnormalities[1]. Based on the extent of skin involvement, SSc is categorized into limited cutaneous systemic sclerosis (lcSSc) and diffuse cutaneous systemic sclerosis (dcSSc), each associated with a range of systemic complications^[1,2].

Scleroderma renal crisis (SRC) is a severe and potentially life-threatening complication of SSc, occurring in approximately 10% of patients with diffuse cutaneous SSc[3]. It is characterized by the sudden onset of acute kidney injury, often accompanied by hypertension and thrombotic microangiopathy[4].

Cardiac involvement in SSc includes pericardial manifestations such as acute pericarditis, pericardial effusion, cardiac tamponade, and constrictive pericarditis^[4,5]. While mild to moderate pericardial effusions are common and may remain asymptomatic, the development of cardiac tamponade is rare but clinically significant[4]. Managing concurrent SRC and cardiac tamponade presents a complex therapeutic challenge due to the intricate interplay between renal and cardiac dysfunction in these patients^[4,6]

HIGHLIGHTS

• Scleroderma renal crisis and cardiac tamponade are rare but severe complications of SSc.

• Early recognition of cardiac and renal involvement in SSc is critical for patient outcomes.

• Pericardial effusion in SSc may signal underlying or impending renal dysfunction.

• Immunological markers, including ANA and Scl-70, aid in the diagnosis of systemic sclerosis.

• Multidisciplinary management is essential for timely intervention and complication prevention.

Here, we present a case of a 50-year-old female who presented with cardiac tamponade with scleroderma renal crisis, discuss the management considerations, and review the published literature on patients with SRC with cardiac tamponade. This case has been reported in line with SCARE criteria[7].

Case presentation

A 50-year-old female presented to the emergency department with a sudden onset of shortness of breath, left-sided chest pain, and decreased urine output for the past 24 hrs. Upon further inquiry, she had a 5-month history of pain and tightness over her bilateral hands, gradually progressive difficulty in opening her mouth, along with bilateral lower limb swelling. She also had episodic numbness and purplish discoloration of fingers, but no history of oral ulcers, hair fall, photosensitivity, or rashes over malar eminences. However, the patient had not sought medical treatment for her symptoms. There was no history of similar illnesses or other autoimmune diseases in the family.

On examination, her blood pressure was 80/60 mm of Hg, and oxygen saturation of 70% in room air was noted. Jugular venous distension and bipedal pitting edema were present. Her respiratory examination revealed inspiratory crackles and wheeze predominantly in the right infra-axillary and infra-scapular region and muffled heart sounds without murmur or pericardial rub on cardiac auscultation. In addition, bilateral fingers were swollen and tender (Fig. 1).

Figure 1.

Hardening and tightening of fingers.

Chest X-ray revealed enlargement of the cardiac silhouette (Fig. 2). ECG showed low voltage QRS with electrical alternans (Fig. 3), and echocardiography confirmed a large pericardial effusion with a reduced ejection fraction of 50% as shown in Fig. 4. Emergency pericardiocentesis was planned. Around 300 mL of straw-colored pericardial fluid was drained and found to be an exudative type on pericardial fluid analysis. Gram stain and culture of the pericardial fluid were normal. She was treated with intravenous nitroglycerine at 10 mcg/min, titrated up to 50 mcg/min, oral captopril 25 mg TID, and furosemide 40 mg IV. The hematological evaluation indicated anemia, reduced white blood cells and platelets, along with significant kidney dysfunction (Table 1). Schistocytes were present on the peripheral blood smear. Urinalysis showed albuminuria with granular casts. However, due to worsening azotemia, she underwent emergency hemodialysis on the 4th day of admission.

Figure 2.

CXR showing enlarged and globular cardiac silhouette.

Figure 3.

ECG showing low voltage QRS and electrical alternans (red arrows).

Figure 4.

Echocardiogram showing massive pericardial effusion (white arrow).

Table 1.

Results of various laboratory investigations

Parameter	Result	Reference range
Hemoglobin	8.4 gm/dL	13.5–17.5 gm/dL (M)/12.0–15.5 gm/dL (F)
Total leukocyte count (TLC)	3600 /mm3	4000–11 000 /mm3
Platelet count	100 000 /mm3	150 000–450 000 /mm3
Creatinine	1008.0 µmol/L	62–115 µmol/L (M)/53–97 µmol/L (F)
Urea	33.5 mmol/L	2.5–7.1 mmol/L
Reticulocyte count	5.77%	0.5–2.5%
LDH (lactate dehydrogenase)	550 U/L	140–280 U/L
Vitamin D (25(OH)D)	7.7 ng/mL	30–100 ng/mL
Intact PTH (iPTH)	411.6 pg/mL	15–65 pg/mL
TSH (thyroid stimulating hormone)	5.50 µIU/mL	0.4–4.0 µIU/mL
ANA (antinuclear antibody)	11.886	<1.0
Scl-70 (quantitative)	129 RU/mL	<10 RU/mL
dsDNA antibody	33.9 IU/mL	<30 IU/mL
SS-A (Ro)	76 RU/mL	<20 RU/mL
Ro-52	55 RU/mL	<20 RU/mL

On further evaluation, imbalances in various hormonal levels were found. With suspicion of rheumatic disease, her immunological panel was sent, which revealed an increased level of antinuclear antigen (ANA) and dsDNA along with a positive extractable nuclear antigens panel with elevated SS-A, Ro-52, and Scl-70 (Table 1). Given the symptoms and findings described above, a diagnosis of scleroderma with SRC along with large pericardial effusion in tamponade was made, and the patient was discharged on At discharge, the patient was prescribed oral captopril 25 mg TID and oral furosemide 20 mg. At three-month follow-up, the patient remains on thrice-weekly maintenance hemodialysis, with no signs of renal recovery to date.

Discussion

Scleroderma renal crisis (SRC) and cardiac tamponade are both serious complications of systemic sclerosis (SSc), though they typically affect different organ systems. While there is no direct causal relationship between them, both conditions arise from vascular injury and fibrosis, which are hallmark features of SSc[8].

Pericardial involvement is frequently observed in SSc patients, but its connection to SRC remains unclear. Notably, Steen et al reported that cardiac manifestations such as congestive heart failure and pericardial effusion often precede SRC by approximately 6 months, suggesting a possible association between these conditions[9]. Similarly, a study by Fernández Morales et al found that 12.5% of patients with severe pericardial effusion eventually developed SRC[6]. The underlying mechanisms linking these rare but severe events are not fully understood but may involve renal cortical hypoperfusion and ischemia due to heart failure or aggressive diuretic use in cases of significant pericardial effusion^[6,10].

SRC is more commonly observed in patients with diffuse cutaneous involvement, particularly in the early stages of the disease and during periods of rapid skin thickening, possibly due to the more aggressive and widespread nature of fibrotic and vascular damage^[1,4]. The use of moderate to high doses of glucocorticoids (e.g., prednisone ≥15 mg/day) is also recognized as a risk factor for SRC[11]. Although our patient did not receive glucocorticoids, she had extensive skin involvement with large joint contractures and active disease, which may indicate underlying cardiac involvement. Additionally, the presence of anti-RNA polymerase III antibodies has been independently associated with an increased risk of SRC, though these autoantibodies were not tested in our patient[12].

Cardiac tamponade due to pericardial effusion is a life-threatening condition requiring urgent pericardiocentesis and, in some cases, hemodialysis. The predominant involvement of the heart in sclerosing illness results in modest to moderate-sized pericardial effusions that might go unnoticed for a long time, whereas newly developing or worsening pericardial effusions should trigger an examination for renal involvement in scleroderma^[4,6]. Several clinical features, including arthralgias, rapidly progressing skin thickening, tendon friction rubs, synovitis, anti-RNA polymerase III antibodies, cardiac involvement (e.g., pericardial effusion, arrhythmias, congestive heart failure), and glucocorticoid use, have been identified as predictors of SRC[13]. Our patient exhibited multiple risk factors, including a history of arthralgias, progressive skin thickening, and large pericardial effusion, highlighting her vulnerability to SRC development.

The precise pathophysiology of SRC remains uncertain, but both cellular and humoral immune mechanisms are thought to play a role^[12,14,15]. Studies suggest that Type-2 T helper lymphocyte activation, increased production of IL-4, IL-13, and IL-17, and excessive collagen deposition contribute to vascular dysfunction in SSc[16]. B-cell activation has also been implicated, with the presence of various autoantibodies suggesting an immune-mediated component in SRC development[16]. Up to 85% of SSc patients have anti-endothelial cell antibodies, which can trigger endothelial injury, increased vascular permeability, and intimal edema[17]. These processes activate the coagulation cascade, leading to thrombosis, fibroblast proliferation, and proliferative endarteropathy (onion skin lesions)^[17,18]. Additionally, activation of the renin-angiotensin-aldosterone system due to reduced renal perfusion can exacerbate hypertension and accelerate renal damage^[11,18]. However, it is important to note that renin levels do not always correlate with the severity of SRC[18]. While kidney biopsy is not always required for diagnosis, it may be helpful in determining prognosis and ruling out other causes of malignant hypertension[18]. According to the classification criteria established by the American College of Rheumatology (ACR) and the European League Against Rheumatism (EULAR), a patient with skin thickening extending proximal to the metacarpophalangeal joints meets the diagnostic threshold for SSc[19]. Our patient, who presented with progressive skin thickening, hypertensive urgency, acute kidney failure, and thrombotic microangiopathy, fulfilled the criteria for SRC in the context of SSc.

The relationship between pericardial effusion, severe myocardial dysfunction, and renal failure in SSc remains incompletely understood[20]. Previous studies have demonstrated that renal failure in SSc is associated with significant reductions in renal cortical blood flow[20]. Pericardial effusion and congestive heart failure, along with their treatment strategies, contribute to renal vasoconstriction, decreased cardiac output, and elevated renal venous pressure, further exacerbating renal ischemia^[20,21]. These hemodynamic alterations collectively contribute to worsening renal function in patients with SSc who experience both pericardial effusion and renal failure[21].

Our patient presented with concurrent cardiac tamponade and SRC at the time of her initial SSc diagnosis and subsequently progressed to end-stage renal disease (ESRD). Although cardiac tamponade itself does not directly necessitate hemodialysis, the resultant renal hypoperfusion and ischemia may trigger scleroderma renal crisis (SRC), which in turn can lead to renal failure requiring dialysis. Early recognition and prompt management are crucial, as SRC carries a high mortality rate despite treatment with angiotensin-converting enzyme inhibitors (ACEIs)[22]. The reported mortality rate following SRC onset is approximately 20% at 6 months, 30–36% at 1 year, and 20–40% at three years[22]. Approximately 50% of patients with SRC progress to ESRD, with only 7–10% achieving renal recovery[23].

Regardless of whether a direct connection exists between pericardial effusion and SRC, routine screening for pericardial involvement in SSc patients is essential, given the poor prognosis associated with significant effusions[24]. In cases of cardiac tamponade or pericardial constriction, prompt intervention with pericardiocentesis or surgical management should be considered^[24,25]. Optimizing preload, avoiding aggressive diuresis, and initiating ACE inhibitor therapy early in patients with systemic sclerosis and pericardial effusion may help reduce the risk of SRC^[24,25]. Furthermore, in patients with systemic sclerosis – especially those with diffuse cutaneous disease – close monitoring of both renal function and cardiac status is critical to detect and manage these potentially life-threatening complications[25].

This case underscores the need for routine cardiac and renal screening in patients with SSc, particularly during early disease, to prevent life-threatening complications such as SRC and cardiac tamponade. Limitations of this study include its single-patient design, which limits generalizability. Larger case series or cohort studies are needed to better elucidate predictive markers and optimal treatment strategies for patients with concurrent SRC and cardiac tamponade.

Conclusion

Systemic sclerosis is a multifaceted autoimmune disease that affects multiple organ systems, with well-known renal and cardiac complications. However, the simultaneous presentation of cardiac tamponade and SRC as the initial manifestation of SSc is an extremely rare occurrence that requires careful consideration. When patients present with cardiac symptoms but lack conventional cardiovascular risk factors, a thorough evaluation is necessary. This process should involve a collaborative team of specialists, including a rheumatologist, cardiologist, and nephrologist, to ensure prompt diagnosis, effective management, and prevention of further complications.

Ethical approval

Not required.

Consent

Written informed consent was obtained from the patient’s parents for the publication of this case report. A copy of the written consent form is available for review by the editor-in-chief of this journal upon request.

Sources of funding

This study did not receive any form of funding.

Author contributions

S.S. and R.A. were involved in the patient care team and contributed to the collection of case information, conceptualization, and writing and editing of the manuscript. S.A. was involved in the patient care team and contributed to the collection of case information and editing of the manuscript. K.S. contributed to the editing of the manuscript. A.T. contributed to the editing of the manuscript. All the authors read and approved the final manuscript.

Conflicts of interest disclosure

None.

Research registration unique identifying number (UIN)

Not applicable.

Guarantor

Dr. Roshan Aryal.

Provenance and peer review

Not commissioned, externally peer-reviewed.

Data availability statement

The data that support the findings of this study are available from the corresponding author upon reasonable request.