Intimal spindle cell sarcoma masquerading as adult-onset symptomatic pulmonic stenosis: a case report and review of the literature
Pulmonary artery intimal spindle cell sarcomas are rare and carry with them a poor prognosis and high rate of recurrence. In extremely rare cases, this tumor can infiltrate the pulmonic valve and manifest as adult-onset pulmonic stenosis.
We report an unusual case of a patient with symptomatic, adult-onset severe pulmonic stenosis who was referred for possible balloon valvuloplasty but was subsequently found to have pulmonary artery intimal sarcoma infiltrating the pulmonary valve leading to progressive exertional dyspnea.
The presence of adult-onset pulmonic stenosis should prompt the clinician to investigate further as most cases of pulmonic stenosis are congenital in nature and present early in life. Careful diagnostic evaluation in concert with multimodal imaging should take place to arrive at the correct and challenging diagnosis of sarcoma-induced adult-onset severe pulmonic stenosis. Given the poor prognosis and rapid progression of disease, early diagnosis is crucial.
KeywordsIntimal sarcoma Spindle cell sarcoma Pulmonary artery sarcoma Pulmonic stenosis Right ventricular outflow tract obstruction (RVOT) Cardiac tumor Valvular tumor Pulmonic valve tumor
Contrast-enhanced computed tomographic
Main pulmonary artery
Magnetic resonance imaging
Positron emissions tomography
Right Ventricular Outflow Tract
Smooth muscle actin
In the majority of cases, pulmonic stenosis is congenital in nature and is commonly diagnosed and treated in the pediatric population. The diagnosis of acquired pulmonic stenosis in adulthood is unusual and may represent an oncologic phenomenon and warrants a thorough workup to identify the etiology of the stenosis. Here we present a case of a patient with adult-onset pulmonic stenosis due to pulmonary artery intimal sarcoma and the multimodal and multidisciplinary efforts needed to diagnose and treat the patient.
A 79-year-old man with a 1-month history of progressive dyspnea and exercise intolerance was found to have severe pulmonic valve stenosis and was referred to our institution for balloon valvuloplasty. Prior medical history included coronary artery disease, hypertension and chronic kidney disease.
Additional file 1: Movie S1. Movie of Fig. 1, Panel A demonstrating sarcoma infiltrating the pulmonic valve. (MP4 1935 kb)
Additional file 2: Movie S2. Movie of Fig. 1, Panel B demonstrating flow acceleration across the pulmonic valve. (MP4 2304 kb)
Additional file 4: Movie S4.
Movies of Fig. 2, Biplane angiogram in right anterior oblique. (MP4 2764 kb)
Additional file 5: Movie S5.
Left anterior oblique view (movie S5) revealing flow obstruction at the level of the pulmonic valve. (MP4 3061 kb)
Additional file 6: Movie S6. Movie of Fig. 5, Panel A showing a large mass obstructing the pulmonic valve. (MP4 4720 kb)
Postoperatively, a TTE demonstrated normal pulmonary valve function and his dyspnea resolved. He was then referred for chemotherapy with pazopanib, a tyrosine kinase inhibitor, but was lost to follow up.
The vast majority of cases of pulmonic stenosis in children and adults are due to congenital heart disease. Acquired pulmonic stenosis is rare with carcinoid syndrome, rheumatic fever and infective endocarditis accounting for the majority of cases . Very rarely, pulmonic stenosis and RVOT obstruction are caused by tumors.
The majority of cardiac tumors are malignant and metastases of extracardiac malignancies . The incidence of primary cardiac tumors, whether benign or malignant, is very low (approximately 0.02% in the general population) . Most primary cardiac tumors are benign; malignant tumors account for only 15% of all primary cardiac tumors. Sarcomas are by far the most common primary cardiac malignancies [3, 4].
Here, we report a case of a malignant intimal sarcoma infiltrating the pulmonic valve, a very rare cause of adult-onset severe pulmonary stenosis and otherwise unexplained progressive exertional dyspnea. The patient in question was initially referred to our institution for balloon valvuloplasty – the treatment modality of choice for symptomatic, congenitally-acquired pulmonic stenosis. However, it is highly atypical for congenitally-acquired pulmonic stenosis to present late in life with symptoms. Therefore, the presentation of adult-onset symptomatic pulmonic stenosis should prompt a nuanced diagnostic workup to identify the correct diagnosis and optimal choice of treatment.
Intimal sarcoma was first described in 1923 by Moritz Mandelstamm . Such tumors are thought to arise from multipotent mesenchymal cells of the intima of the great arteries . Between 1923 and 2012, less than 200 cases of intimal sarcoma involving the great arteries have been described with the majority of reports focusing on histological features and surgical management . When intimal sarcomas arise from the main pulmonary artery they tend to extend into the pulmonary artery branches and rarely involve the pulmonary valve and RVOT [8, 9, 10, 11, 12, 13].
It has previously been reported that intimal sarcomas have a female predominance. However, a more recent study has shown an equal sex distribution with an average age of disease onset of 49.3 years (range 13-81 years) . By the time of presentation, the disease is usually advanced and carries a poor prognosis with a median survival of only 17 months .
Establishing the diagnosis of intimal sarcoma is challenging. Pulmonary artery intimal sarcomas often present with cough, dyspnea and chest pain associated with radiological features suggestive of a thrombus or obstructive mass in the pulmonary artery . The most common finding on physical examination is a systolic ejection murmur which is seen in 44% of patients . The overall clinical presentation of pulmonary artery intimal sarcomas mimic pulmonary embolism and there are several reports in the literature of intimal sarcoma masquerading as pulmonary embolism [16, 17, 18, 19].
The current diagnostic gold-standard is tissue sampling and immunohistochemical analysis. Intimal sarcomas can radiographically mimic thrombus and drastically alter clinical decision making. Therefore, preoperative, multimodality imaging is of paramount importance. Doppler echocardiography is the screening tool of choice and should be considered in all patients with suspected intracardiac masses as it allows for identification and characterization of the mass based on potential hemodynamic consequences . Transthoracic and transesophageal echocardiography have 93% and 97% sensitivity in detecting primary cardiac tumors, respectively . Intimal sarcomas are highly vascularized tumors that readily demonstrate hyperenhancement with contrast perfusion echocardiography . On the other hand, stromal tumors and thrombi demonstrate hypoenhancement. Other TTE findings suggestive of intimal sarcoma include a right sided location, right ventricular hypertrophy and a bulging or ovoid mass with involvement of the pulmonic valve or RVOT causing pulmonic stenosis .
Other imaging modalities that are useful in diagnosing intimal sarcoma include CT, cardiac MRI and positron emission tomography (PET) scans. On CT, intimal sarcomas are more likely to have a heterogeneous appearance with smooth, contiguous areas of spread, often expanding beyond the vessel wall, in contrast to thrombus . On MRI, intimal sarcomas are more likely to demonstrate enhancement and vascularity after administration of contrast that allows for accurate anatomic localization. Finally, PET scans can aid in diagnosis and prognosis by showing tumor size, spread and distribution.
Radical surgical resection remains the only definitive mode of treatment. Without surgery the mean survival rate is 1.5 months and with surgery the chance of recurrence and spread remains high . In certain cases, cardiac transplantation may prolong survival compared to treatment with local resection . There are some reports of improved survival with adjuvant chemotherapy following resection, however, data are limited [25, 26, 27].
In summary, in patients presenting with symptomatic, adult-onset pulmonic stenosis with radiographic features of an obstruction in the pulmonary artery or RVOT, intimal sarcoma should be a consideration on the differential diagnosis. Early diagnosis is crucial as this disease is rapidly progressive and has a poor prognosis.
We are grateful for the pathology images provided by James Suh, formerly of the Department of Pathology, New York University Langone Medical Center.
No funding to report.
Availability of data and materials
Data sharing is not applicable to this article as no datasets were generated or analysed during the current study.
AM and MS gathered data, performed literature review and co-wrote the case report. SPM performed the surgery, provided intra-op images of the mass and helped review the final manuscript. CRW and AR were directly involved in the care of this patient and helped review the final manuscript. LAL and PB were involved in image acquisition and provided radiologic interpretation. All authors read and approved the final manuscript.
Ethics approval and consent to participate
Consent for publication
Informed consent obtained.
The authors declare that they have no competing interests.
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
- 25.Genoni M, Biraima AM, Bode B, et al. Combined resection and adjuvant therapy improves prognosis of sarcomas of the pulmonary trunk. J Cardiovasc Surg. 2001;42:829–33.Google Scholar
Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.