Ultrasonic manifestations of intravascular leiomyomatosis involving the right atrium: a case report

Abstract

This case report describes a 37-year-old female with a history of cesarean section and uterine leiomyoma resection, who presented with recurrent dyspnea and palpitations. Echocardiography revealed a hyperechoic, mobile mass (3.9 × 2.2 cm) in the right atrium (RA) extending into the inferior vena cava (IVC), accompanied by global cardiomegaly, severe tricuspid regurgitation, and mildly reduced left ventricular function. Elevated tumor markers (CA125, CA199, CA50) and NT-proBNP were noted. Transvaginal ultrasound identified a large pelvic mass, while PET-CT demonstrated multiple pulmonary and pelvic lesions with mild FDG uptake, suggestive of benign intravascular leiomyomatosis with metastases. Pathological biopsy of pulmonary and pelvic lesions confirmed smooth muscle-derived tumors consistent with leiomyoma, supported by immunohistochemistry (SMA+, Desmin+, h-caldesmon+). This case highlights the characteristic ultrasonographic features and underscores the importance of a multidisciplinary diagnostic approach for intravascular leiomyomatosis involving cardiac structures.

Case presentation

A 37-year-old female presented with a 6-year history of recurrent dyspnea and 2 days of palpitations. Her past medical history included cesarean section and uterine leiomyoma resection.

Physical examination

The patient was conscious. Vital signs were: BP 112/60 mmHg, temperature 36.4 °C, heart rate (HR) 82 bpm, respiratory rate (RR) 18 bpm. Cardiac auscultation revealed a regular rhythm without murmurs.

Laboratory findings

Test	Value	Reference Range
CA125	74.2 U/mL	↑
CA199	46.4 U/mL	↑
CA50	27.3 U/mL	↑
ROMA value 1	26.8%	↑
ROMA value 2	43.76%	↑
NT-proBNP	1509 pg/mL	↑

ECG: Showed atrial flutter with ST-T changes

Echocardiography

Revealed global cardiac enlargement, predominantly affecting the right atrium (RA) and right ventricle (RV). A hyperechoic, highly mobile mass (3.9 × 2.2 cm) was observed at the RA roof near the orifice of the inferior vena cava (IVC), extending into the IVC as a band-like hyperechoic structure. Left ventricular (LV) wall motion and systolic thickening were mildly reduced. A minimal pericardial effusion was present. The tricuspid valve (TV) leaflets appeared thickened with hyperechoic strand-like attachments, causing severe prolapse of the anterior leaflet and incomplete coaptation.

Color doppler

Demonstrated moderate-to-severe tricuspid regurgitation (TR) and mild mitral regurgitation (MR). The estimated pulmonary artery systolic pressure (PASP) was 62.7 mmHg. Pulmonary artery dilation (3.0 cm) and IVC dilation (3.2 cm) with reduced respiratory variation were noted. The left ventricular ejection fraction (LVEF) was 49%.

Diagnostic conclusion

Global cardiomegaly.

Hyperechoic RA/IVC mass (indeterminate etiology; further evaluation recommended).

Severe TV insufficiency with moderate-to-severe TR (suspected anterior leaflet prolapse/chordae rupture).

Mild MR.

Mildly reduced LV systolic function.

Small pericardial effusion (Fig. 1).

Fig. 1.

Echocardiographic findings: (A) Hyperechoic RA mass; (B) Hyperechoic strands on TV leaflets; (C, D) IVC extension; (E) LV “D-shaped” deformation due to compression

Transvaginal ultrasound

Identified a large mixed-echoic pelvic mass (16.2 × 8.0 × 15.2 cm) with arterial and venous flow signals, suggestive of an arteriovenous malformation. A solid, avascular nodule (3.8 × 1.8 × 3.0 cm) was noted adjacent to the uterine anterior wall.

Whole-body PET-CT

Revealed multiple pulmonary nodules (largest 3.6 × 3.7 cm) with mild FDG uptake. Dilation of the pulmonary arteries, IVC, portal vein, and right internal iliac vein was observed. Pelvic and right gluteal soft tissue masses (largest 7.0 × 7.4 cm) also showed mild FDG uptake.

Impression: Findings were suggestive of benign leiomyomatosis with pulmonary, vascular, and pelvic metastases (Figs. 2 and 3).

Fig. 2.

PET-CT demonstrating pulmonary metastases and pulmonary artery dilation

Fig. 3.

CTV showing pelvic mass with intracardiac extension

Pathological diagnosis

PET-CT-guided percutaneous biopsies of a right upper lung mass and a pelvic mass were performed.

(Right upper lung) Smooth muscle-derived tumor, with a tendency towards leiomyoma.

Immunohistochemistry: DOG1 (-), CD34 (-), SMA (+), Desmin (+), S-100 (-), Ki67 (2%+), CK (-), h-caldesmon (+), HMB45 (-), STAT6 (-).

(Pelvic mass) Smooth muscle origin tumor, tendency to leiomyoma.

Immunohistochemistry: CD34 (vascular +), SMA (+), Desmin (+), h-caldesmon (+), P16 (partially +), P53 (wild type), Ki67 (3%+), S100 (-).

Treatment and follow-up

The patient was referred for a one-stage hybrid procedure combining cardiothoracic and gynecological surgery. The procedure involved the successful resection of the intracardiac and intravascular tumor extensions, followed by hysterectomy and bilateral salpingo-oophorectomy. The final pathology of the resected specimens confirmed the diagnosis of intravascular leiomyomatosis. Postoperatively, the patient’s cardiac symptoms improved significantly. At the 3-month follow-up, echocardiography showed the complete resolution of the right atrial mass, a reduction in right heart size, and improved tricuspid valve function. The patient was started on adjuvant anti-estrogen therapy and will be monitored closely for any signs of recurrence.

Discussion

Intravascular leiomyomatosis (IVL) is a rare condition characterized by the proliferation of histologically benign smooth muscle tissue within venous channels. Its ability to extend from pelvic veins into the inferior vena cava (IVC) and right heart cavities confers a potentially life-threatening “malignant” biological behavior [1]. Our case exemplifies a classic, though advanced, presentation of intracardiac IVL. The patient’s symptoms of dyspnea and palpitations were direct consequences of the space-occupying lesion within the right heart, which led to tricuspid valve dysfunction, severe pulmonary hypertension, and ultimately heart failure.

The echocardiographic findings in our case are highly illustrative. The visualization of a hyperechoic, mobile mass extending from the IVC into the RA is the hallmark of intracardiac IVL [2, 3]. However, a more nuanced finding was the identification of hyperechoic strands attached to the tricuspid valve leaflets, resulting in significant prolapse and regurgitation. While IVL commonly traverses the tricuspid valve, direct structural involvement leading to severe insufficiency is a critical feature that deserves emphasis, as it directly impacts surgical planning [4]. This underscores echocardiography’s pivotal role not only in detection but also in assessing functional complications.

Our case aligns with the literature regarding the diagnostic challenge IVL presents. The non-specific symptoms often lead to delayed diagnosis, as evidenced by the retrospective identification of an IVC lesion on imaging seven years prior. This highlights the need for increased awareness among sonographers and clinicians. When a serpentine, mobile right atrial mass is detected in a middle-aged woman with a history of uterine leiomyomas, IVL should be high on the differential diagnosis [5]. As demonstrated, a multidisciplinary approach integrating echocardiography, CT/PET-CT, and biopsy is essential for confirming the diagnosis and mapping the disease extent.

The primary treatment for IVL with cardiac extension is complete surgical resection, often requiring a collaborative two-stage or one-stage hybrid procedure involving cardiac and gynecological surgeons [4, 6]. The goal is to remove all intravascular and pelvic disease to prevent recurrence. In cases with tricuspid valve destruction, valve repair or replacement becomes necessary, as was considered in our patient’s managemen [4]. Postoperative anti-estrogen therapy (e.g., GnRH agonists or aromatase inhibitors) is frequently employed to suppress the growth of any residual microscopic disease, given the hormone-responsive nature of these tumors [6].

Differential diagnosis

IVL should be distinguished from other right atrial masses:

Thrombi: Usually associated with predisposing conditions (e.g., atrial fibrillation, heart failure). Thrombi often have an irregular shape, adhere to the atrial wall or IVC-RA junction, and demonstrate limited mobility.

Myxomas: The most common primary cardiac tumor, typically attached to the interatrial septum by a pedicle. The location and attachment point in this case were inconsistent with a myxoma.

Metastatic Tumors: Patients usually have a known primary malignancy (e.g., renal, hepatic). Cancer emboli tend to be firmly adherent to the vessel or cardiac wall with restricted mobility. Contrast-enhanced ultrasound (cardiac acoustic angiography) can aid differentiation by assessing lesion vascularity.

Study limitations

This report shares the limitations inherent to all single case studies. Furthermore, the definitive pathological diagnosis was made from metastatic (pulmonary and pelvic) sites rather than the cardiac mass itself, although the imaging continuity strongly supports the diagnosis of IVL. Long-term follow-up data beyond the initial 3-month period are not yet available.

Conclusion

This case provides a comprehensive depiction of the ultrasonic manifestations of intracardiac IVL, with a particular emphasis on its potential to cause significant tricuspid valve damage. It reinforces the critical importance of echocardiography as a first-line diagnostic tool and the necessity of a multidisciplinary strategy for managing this complex disease. Early recognition and complete resection are paramount for improving patient outcomes. Future efforts should focus on establishing multi-center registries to better understand the natural history of IVL and to standardize treatment protocols.

Author contributions

Zhihong Su: Manuscript writing, data collection. Shunfa Huang: Manuscript revision, image analysis, study supervision. All authors read and approved the final manuscript.

Funding

None.

Data availability

All data generated or analyzed during this study are included in this published article.

Declarations

Ethics approval and consent to participate

The study protocol was approved by the Ethics Committee of Ethics Committee of Zhongshan Hospital (Xiamen), Fudan University in accordance with the World Medical Association Declaration of Helsinki. Informed consent was obtained from the participant included in the study.

Consent for publication

Written informed consent for publication of the clinical details and clinical images was obtained from the patient.

Competing interests

The authors declare no competing interests.