Chronic Recurrent Idiopathic Pericardial Effusion in a 53‐Year‐Old With Down Syndrome: A Case Report

ABSTRACT

Pericardial effusion can result from multiple causes, and patients with Down syndrome are at increased risk. We report a case of idiopathic pericardial effusion in a Down syndrome patient, highlighting ECG as an important diagnostic feature for timely and effective management of this condition.

1. Introduction

Pericardial effusion is defined as the accumulation of fluid within the pericardial sac surrounding the heart. This condition can result from various etiologies, including infections, malignancies, autoimmune diseases, cardiac syndromes, drugs, toxins, metabolic abnormalities, radiation‐induced inflammation, collagen‐vascular disease, uremia, and idiopathic factors [1]. Patients with pericardial effusion may present with nonspecific physical signs or symptoms, although some may experience chest pain, dyspnea, or a sensation of fullness, with or without the presence of cardiac tamponade. Additionally, symptoms may be related to the underlying cause of the pericardial disease [2]. The presence of pericardial effusion is often suggested through electrocardiogram (ECG), chest radiography, and echocardiogram. To determine the cause of the effusion, clinicians conduct a comprehensive evaluation that includes history‐taking, physical examination, and blood tests. In some cases, they may also analyze the pericardial fluid, which may or may not involve a pathological examination of the pericardium. Management of pericardial effusion includes addressing any identifiable underlying etiology. Patients with large pericardial effusions who exhibit no signs of hemodynamic compromise typically do not require immediate therapeutic intervention; however, pericardial fluid sampling for diagnostic purposes may be necessary [3]. Down syndrome, a genetic disorder caused by the presence of an extra chromosome 21, is associated with a spectrum of physical and intellectual disabilities. As individuals with Down syndrome age, they become increasingly susceptible to various health complications [4]. Research indicates that adults with Down syndrome are particularly vulnerable to conditions such as congenital heart defects, hypothyroidism, iron deficiency—often due to celiac disease—blood disorders (e.g., myelopoiesis), and increased susceptibility to infections [5]. These factors contribute to an elevated risk of developing cardiovascular issues, including pericardial effusion. Idiopathic pericardial effusion in individuals with Down syndrome is an uncommon condition; however, its early recognition is crucial, as these patients may present with atypical or subtle symptoms that can delay diagnosis. Given the potential for rapid progression and hemodynamic compromise, clinicians should maintain a high index of suspicion and promptly initiate appropriate evaluation and management. We report a case involving a 53‐year‐old patient with Down syndrome, who exhibited QRS alternans and an echocardiographic swinging heart pattern due to a massive circumferential pericardial effusion.

2. Case History

We present the case of a 53‐year‐old woman with Down syndrome and hypothyroidism on hormone replacement therapy, partially autonomous, able to carry out work of a light or sedentary nature. She was referred by her primary care physician for evaluation of fatigue and paroxysmal dyspnea unrelated to exertion, which she had developed in the preceding two months, and progressively worsening orthopnea in the week prior to the evaluation. At the presentation, the patient's vital signs were within normal limits and her white blood cell count, thyroid function, and N‐terminal pro B‐type Natriuretic Peptide (NT‐proBNP) levels were all within normal limits. Physical examination revealed bilateral jugular vein distension and a positive hepatojugular reflux, with no other signs of heart failure. Pulsus paradoxus was absent.

3. Methods

Considering the patient's clinical history and symptoms, we performed a 12‐lead electrocardiogram, which showed low QRS voltages, electrical alternans in leads V1–V3 and T‐wave flattening (Figure 1), and a chest X‐ray, which showed an enlarged cardiac silhouette. We completed the evaluation with a transthoracic echocardiography which revealed a large circumferential pericardial effusion (> 7 cm) with a swinging heart pattern (Figures 2 and 3) and early diastolic collapse of the right atrium (Figure 4), though there were no signs of acute cardiac tamponade. In order to relieve the symptoms and to perform the diagnostic fluid analysis, pericardiocentesis was performed and 2000 mL of fluid was drained: no presence of malignant cells and no evidence of autoimmune disease or tuberculosis infection was found.

FIGURE 1.

An electrocardiogram shows a low QRS voltages, electrical alternans in leads V1 to V3 and T‐wave flattening.

FIGURE 2.

A transthoracic echocardiography shows a large circumferential pericardial effusion (> 7 cm) with a swinging heart pattern.

FIGURE 3.

A transthoracic echocardiography shows a large circumferential pericardial effusion with a swinging heart pattern.

FIGURE 4.

A transthoracic echocardiography shows a large circumferential pericardial effusion and early diastolic collapse of the right atrium.

4. Conclusion

The symptoms reported by our patient and the ECG suggested the presence of a pericardial effusion, which was confirmed by echocardiography. The medical history, laboratory tests, chest X‐ray, and analysis of the pericardiocentesis fluid ruled out several potential causes, such as infections, neoplasms, trauma, renal disorders, heart failure, medications, or autoimmune diseases. The patient was subsequently diagnosed with idiopathic pericardial effusion. Given her hemodynamic stability and gradual progression of symptoms, a chronic effusion was suspected. Following drainage, her symptoms resolved, and she was discharged on colchicine therapy after a brief observation period. At her first follow‐up, a new 2 cm circumferential pericardial effusion was detected, leading to the initiation of high‐dose steroid therapy. Due to the persistence of the effusion, which only partially responded to steroids, the patient underwent thoracoscopic pericardial fenestration and a heart biopsy. No significant pathological findings were observed. Six months after the surgical intervention and three months after discontinuing anti‐inflammatory therapy, the patient showed favorable progress. She remained asymptomatic with no recurrence of the effusion. A follow‐up appointment has been scheduled for one year.

5. Discussion

Pericardial effusion in patients with Down syndrome is occasionally reported in the literature, mostly in the form of case reports. Down syndrome is the most common genetic disorder. A lot of acquired disease has been described in this condition, and heart defects represent the most common with a percentage of 50% [6]. Pericardial effusion is commonly observed in children with infectious diseases, hypothyroidism, malignancies, and autoimmune conditions such as celiac disease. In a previous study, Concolino et al. examined 86 children with Down syndrome who did not have congenital cardiac malformations, with the aim of determining the incidence of pericardial effusion and exploring a potential pathogenic link between pericardial effusion, thyroid dysfunction, celiac disease, and infections. The study found that 28% of the 86 children had pericardial effusion. Among them, only one had acquired hypothyroidism and was undergoing treatment, while three were diagnosed with celiac disease. Infectious diseases were excluded, and no evident cause of pericardial effusion was identified in the remaining children [7]. More recent literature describes two clinical cases of children with Down syndrome and pericardial effusion due to severe myxedema [8, 9] as well as a case of a 52‐year‐old man with Down syndrome who developed cardiac tamponade associated with hypothyroidism [10]. This case report discusses a patient with Down syndrome who presented with idiopathic pericardial effusion, emphasizing the crucial role of ECG in identifying this condition, which could potentially progress to cardiac tamponade.

The echocardiogram is the primary non‐invasive diagnostic tool for assessing pericardial effusion, providing key information such as the presence of pericardial effusion, collapse of the right atrium or ventricle, and a “swinging heart” pattern [11]. However, the ECG serves as an additional bedside diagnostic tool, and its utility in pericardial effusion is well documented. Various ECG abnormalities, such as sinus tachycardia, PR segment depression, low QRS voltage, ST segment elevation, and electrical alternans, have been associated with pericardial effusion and cardiac tamponade. Electrical alternans is an electrocardiographic phenomenon characterized by alternating amplitude or axis of the QRS complexes across one or more leads, without changes in the heart's conduction pathways. Although these ECG findings are considered specific, they have low sensitivity and can have other differential diagnoses, including severe emphysema, pneumothorax, and certain arrhythmias [12, 13]. While the presence of these ECG abnormalities strongly suggests pericardial effusion, their absence does not rule it out [14, 15]. Our patient's clinical history included several possible differential diagnoses, but the ECG provided a key clue to guide diagnosis. The combination of low QRS voltages with electrical alternans is highly suggestive of a pericardial effusion. This ECG pattern is characteristic and can raise suspicion of pericardial effusion. Regarding the etiology of the effusion, our patient underwent blood tests and diagnostic fluid analysis to explore a potential pathogenetic link between the pericardial effusion and possible underlying causes. The absence of abnormal findings suggests an idiopathic origin.

According to recent literature, patients with hemodynamic instability and signs of tamponade are treated with pericardiocentesis. The latter is also indicated for patients who are highly symptomatic and suspected of having a tumor or bacterial cause. On the other hand, in hemodynamically stable patients with a risk of recurrence, such as in the case of chronic effusion, the most appropriate procedure is a pericardial window [16, 17]. Patients who do not respond to the above criteria should receive conservative treatment, as in acute pericarditis, initially with non‐steroidal anti‐inflammatory drugs associated with colchicine, and only as a second‐line treatment with glucocorticoids. It is also worth noting that the literature shows evidence for the use of colchicine to reduce the risk of recurrence and the use of glucocorticoids in treatment [17, 18, 19]. For our patient, we initially prescribed first‐line therapy with aspirin and colchicine. Based on the patient's partial response, we then introduced glucocorticoids as a second‐line treatment. Ultimately, given the recurrence despite second‐line treatment for a benign effusion, we proceeded with a pericardial window.

An important clinical insight from our case is the need to pay close attention to the increased susceptibility of older patients with Down syndrome to pericardial effusion [3, 11, 13]. Moreover, our case report illustrates how specific ECG and echocardiography findings, when carefully interpreted, can support clinicians in making an early diagnosis and guiding timely intervention. This is particularly important for patients with Down syndrome, who may have an increased risk of cardiovascular complications and exhibit atypical presentations. Ultimately, this case report highlights the importance of vigilant monitoring and prompt management of idiopathic pericardial effusion in individuals with Down syndrome, given the potential for resistance to therapy, rapid progression, and elevated risk of cardiovascular complications in these patients.

Author Contributions

Rossana Izzo: conceptualization, project administration, writing – original draft. Eugenia Morello: conceptualization, project administration, writing – original draft. Simone Sarzilla: conceptualization, writing – review and editing. Aurora Pepino: writing – review and editing. Mattia Duchini: writing – review and editing. Daniela Campanale: writing – review and editing. Andrea Menafoglio: conceptualization, writing – review and editing. Angelo Di Simone: investigation, software, writing – review and editing. Andrea Demarchi: conceptualization, methodology, supervision, validation, writing – original draft.

Consent

Written informed consent was obtained from the patient to publish this report in accordance with the journal's patient consent policy.

Conflicts of Interest

The authors declare no conflicts of interest.

Izzo R., Morello E., Sarzilla S., et al., “Chronic Recurrent Idiopathic Pericardial Effusion in a 53‐Year‐Old With Down Syndrome: A Case Report,” Clinical Case Reports 13, no. 10 (2025): e71237, 10.1002/ccr3.71237.

Data Availability Statement

Data sharing is not applicable to this article as no new data were created or analyzed in this study.