A tale of two valves: where rheumatic mitral disease meets aortic papillary fibroelastoma – a narrative review

Abstract

Rheumatic heart disease (RHD) and papillary fibroelastoma (PFE) are distinct cardiovascular disorders that can rarely occur together. RHD is a chronic condition caused by untreated streptococcal infections, primarily affecting the mitral valve and resulting in severe valvular damage. On the other hand, PFE is a benign heart tumor, usually affecting the aortic valve, and is typically asymptomatic, often discovered incidentally through imaging. The simultaneous presence of RHD and PFE, especially involving the mitral and aortic valves, has only been reported in two case studies. This review examines the pathophysiology, clinical features, diagnostic challenges, and treatment options for both conditions. Echocardiography is the primary diagnostic tool, and surgery, involving tumor removal and valve replacement, is the standard treatment for symptomatic cases. Although this dual condition is rare, the review highlights the significance of early detection, particularly in areas where RHD is common, and calls for additional research to explore the potential connections between these conditions and improve patient care.

Introduction

Rheumatic heart disease (RHD) and papillary fibroelastoma (PFE) represent two distinct yet significant conditions in cardiovascular pathology. RHD is a chronic disorder that arises from untreated beta-hemolytic streptococci, which affects over 33 million people globally. It mainly impacts children and young adults in developing nations^[1]. In contrast, PFEs are uncommon, benign primary cardiac tumors that typically affect the aortic valve. PFE is the third most common benign cardiac tumor, with an incidence of up to 0.33% in autopsies^[2]. PFEs may not present any symptoms, leading to their diagnosis often being accidental^[3].

The simultaneous presence of RHD affecting the mitral valve and PFE on the aortic valve is exceptionally rare, with only two cases documented in the literature, thus far^[4,5]. Despite this rarity, their coexistence raises important clinical questions. Several hypotheses have been proposed to explain this intersection. In both cases, it has been suggested that chronic valvular scarring and fibrosis from RHD may predispose the valve surface to fibroelastic proliferation^[6]. Additional theories include degenerative changes from mechanical wear and tear^[7,8] and trauma to the endocardium caused by persistent inflammation^[9]. These mechanisms, particularly in the setting of longstanding rheumatic damage, may provide the substrate for PFE development. No comprehensive narrative review has examined this unusual co-occurrence.

HIGHLIGHTS

• The occurrence of both rheumatic heart disease (RHD) affecting the mitral valve and papillary fibroelastoma (PFE) on the aortic valve together is exceptionally uncommon, with only two case reports available in the literature.

• This review explores potential pathophysiological overlaps between RHD and PFE, including chronic inflammation, endothelial trauma, and thrombotic remodeling.

• Echocardiography remains the primary diagnostic method for both RHD and PFE, while transesophageal echocardiography, cardiac MRI (CMR), and CT scans are useful for providing additional details and characterizing heart masses.

• Differential diagnosis is essential, as PFEs must be differentiated from other cardiac tumors like myxomas, vegetations, and Lambl’s excrescences, which have similar features but distinct imaging and histological traits.

• Definitive management involves surgical excision and valve repair or replacement, with favorable postoperative outcomes.

Although RHD and PFE are distinct entities, discussing them separately provides clarity regarding their individual pathophysiology, clinical presentation, and diagnostic pathways. This structure sets the foundation for understanding their potential pathophysiological overlap. By outlining each condition independently, we aim to highlight how shared mechanisms such as chronic valvular injury, endothelial dysfunction, and prothrombotic states may contribute to their rare but clinically significant co-occurrence.

This review aims to comprehensively explore the potential pathophysiological, diagnostic, and therapeutic connections between RHD and PFE. We synthesize findings from the two published case reports and analyze the broader literature on the pathogenesis, imaging features, differential diagnosis, and surgical management. By doing so, this review highlights the diagnostic challenges posed by such a rare presentation and proposes directions for future research and clinical awareness.

In accordance with the TITAN 2025 guidelines governing the declaration of AI usage in the research and manuscript development^[10], we confirm that no generative AI tools were utilized in the conceptualization, writing, or editing of this manuscript.

Methodology

An initial literature search was conducted in MEDLINE/PubMed from January 2000 to September 2024 using the following search strategy: “(Rheumatic Heart Disease) AND (Papillary Fibroelastoma) AND (Aortic Valve).” The full text of potentially relevant articles was thoroughly assessed, and their bibliographies were reviewed to identify additional relevant studies. The inclusion criteria for the selected studies were case reports documenting the co-occurrence of rheumatic mitral disease and aortic PFE. Articles published before 2000 and those written in languages other than English were excluded.

Rheumatic heart disease of the mitral valve

RHD is a gradually progressive condition that primarily impacts individuals over the age of 65^[11], exhibiting endemic patterns in low- and middle-income countries, particularly in Southeast Asia, sub-Saharan Africa, and Oceania^[12].

Pathophysiology

RHD is a damaging condition that follows acute rheumatic fever (ARF), arising from an abnormal immune reaction to streptococcal pharyngitis, which leads to valvular damage^[13]. The pathophysiology of ARF is not fully understood, but it is believed to involve cross-reactivity between Group A Streptococcus (GAS) and host proteins in individuals with a genetic predisposition^[14]. While the symptoms of ARF may subside, the damage inflicted on the heart valves persists and worsens with further GAS infections, resulting in the progressive valvular fibrosis characteristic of RHD. The mitral valve is the most affected and can suffer from both mitral stenosis and regurgitation^[15].

Clinical features

Particular clinical signs of RHD to look out for include palpitations, wheezing, intermittent dizziness^[4,5], Chest pain or discomfort, shortness of breath, edema of the stomach, hands, or feet, and rapid or irregular heartbeat^[16]. Generally, there are two methods of screening for RHD in the developing world: auscultation and echocardiography. Although auscultation has become less favored over the past several decades, it remains advantageous due to its accessibility and ease of use in remote rural areas. However, compared to echocardiography, auscultation is much less sensitive and specific for detecting RHD^[17]. The use of echocardiography has also allowed for the identification of previously undiagnosed cases of borderline RHD^[18].

Complications and management

The most prevalent medical complications following RHD include heart failure, pulmonary hypertension, atrial fibrillation^[19], and congestive heart failure in some advanced cases^[15]. Conservative management has no curative effect, leaving the patient with invasive or noninvasive procedures^[19]. Catheter-based interventions, such as percutaneous transvenous mitral commissurotomy (PTMC), have been known to benefit patients with RHD^[7]. For advanced RHD, open-heart surgery like mitral valve repair or replacement is the only definitive treatment. However, its accessibility is extremely limited in the developing world^[12].

Papillary fibroelastoma of aortic valve

PFE ranks as the third most frequent benign primary cardiac tumor, appearing in up to 0.33% of autopsy cases. It constitutes about 75% of all cardiac valvular tumors, affecting both men and women equally, with an average age of 60 at the time of diagnosis^[2]. The aortic and mitral leaflets are the most common sites of origin, accounting for 60% to 90% of diagnosed cases, followed by the tricuspid and pulmonary valves^[8,9,20].

Pathophysiology

PFEs are rare in children but more common in older patients with longstanding heart disease, suggesting they result from mechanical wear and tear or a degenerative process^[8,20]. These tumors are often linked to previous cardiac surgeries, especially near the operation site, and may also develop from radiation damage to the endocardium^[21]. The presence of dendritic cells and cytomegalovirus in some PFEs suggests a potential link to chronic viral endocarditis^[22]. A frequently mentioned hypothesis suggests that these lesions are acquired, starting as microthrombi. Over time, these microthrombi develop into excrescences and eventually into PFEs^[23,24]. In addition to surgical trauma and degenerative processes, chronic valvular diseases such as RHD may also play a contributory role in fibroelastoma development. Repeated endothelial injury, persistent inflammation, and turbulent flow across fibrotic rheumatic valves can lead to progressive remodeling characterized by fibrosis, endothelial hyperplasia, and extracellular matrix proliferation. Furthermore, persistent inflammation in RHD has been shown to promote endothelial dysfunction, platelet activation, and a prothrombotic state^[15]. This prothrombotic environment could initiate microthrombus formation, a process believed to be the early stage in PFE pathogenesis, offering a mechanistic link between chronic rheumatic injury and fibroelastoma formation^[21]. Figure 1 illustrates the various potential pathophysiological causes of PFE.

Figure 1.

Radial diagram showing potential pathophysiological causes of papillary fibroelastoma.

Clinical features and diagnosis

PFEs are either asymptomatic^[20] or cause various nonspecific symptoms due to systemic or peripheral embolization, cardiac obstruction, and valve dysfunction^[25]. Symptoms such as fever, dyspnea, palpitations, and chest discomfort have been observed^[9,26]. They have also been linked to conditions like left ventricular apical ballooning syndrome, subacute bacterial endocarditis, antiphospholipid antibody syndrome, thyroid dysfunction, and thrombocytopenia^[27]. Patients with PFE may also have systolic or diastolic murmurs due to valvular or outflow obstruction^[8,27].

Echocardiography remains the most efficient and accessible method for identifying and characterizing PFEs^[28]. In transthoracic echocardiography (TTE), PFEs typically appear as mobile, small, pedunculated, echo-dense formations^[29]with a well-demarcated and uniformly textured appearance^[9]. Histologically, a layer of cardiac endothelial cells with a central core of fibroelastic fibers is characteristic, along with multiple papillary fronds on the surface^[4,5,9,27]. Diagnosis is often incidental during routine echocardiography, cardiac surgery, or autopsy^[8,9]. The differential diagnosis includes other cardiac tumors, such as myxomas, vegetations, Lambl’s excrescences, and thrombi^[25].

Management

Primary surgical excision is the recommended treatment for symptomatic PFEs^[8,9,20]. In cases of asymptomatic PFEs with an incidental diagnosis, it is advised to surgically resect the tumor if its mobile and the size is greater than 1 cm, as they are at risk of embolization and sudden cardiac death, whereas asymptomatic patients with small, nonmobile lesions less than 1 cm should be closely monitored with echocardiography^[9].

Co-occurrence of RHD and PFE

Case reports

The coexistence of RHD of the mitral valve and PFE of the aortic valve is highly uncommon and has only been observed in two case reports previously^[4,5], according to our knowledge. Both patients were females in their late 40s to early 50s with no history of cardiopulmonary disorders, cardiac tumors, cardiac surgeries, smoking, alcoholic consumption, substance abuse, and no family history of cancer. The 50-year-old female patient presented with exertional dyspnea, occasional palpitations, and intermittent dizziness. In contrast, the 47-year-old female patient exhibited bilateral lower leg pitting edema^[4], expiratory wheezing, shortness of breath, palpitations, and episodic dizziness^[5]. In the first case, TTE revealed moderate mitral stenosis and regurgitation, mild tricuspid regurgitation, and mild to moderate aortic valve regurgitation, along with the presence of a round mass on the aortic valve^[4]. In the second case, TEE (transesophageal echocardiography) identified a thickened, dome-shaped mitral valve and a hypermobile, worm-like mass attached to the aortic valve^[5]. Both conditions are associated with significant pathological changes to the heart valves, but their co-occurrence prompts critical questions about potential underlying mechanisms.

The case studied by Shi et al^[4] was surgically managed by tumorectomy with AVR (aortic valve replacement) and MVR (mitral valve replacement), while tumorectomy with only MVR was performed in the case presented by Khezerlouy et al^[5]. The aortic and mitral valves were replaced by St. Jude bileaflet mechanical valves^[4,5]. Table 1 summarizes the two case reports below, showing the co-occurrence of RHD and PFE.

Table 1.

Case reports showing co-occurrence of RHD and PFE

Study	Age	Sex	Disease	Symptoms	Imaging	Management	Outcome
Shi et al (2016)[4]	50	F	Concurrent RHD and PFE	Exertional dyspnea, palpitations, dizziness	CXR: normal.	Tumorectomy with AVR and MVR by St. Jude mechanical valves	No postoperative complications, no symptoms
					ECG: afib.
					TTE: moderate mitral stenosis and regurgitation, mild tricuspid regurgitation, mild to moderate aortic valve regurgitation, round mass (6x5 mm) on aortic valve.
Khezerlouy et al (2024)[5]	47	F	Concurrent RHD and PFE	Worsening dyspnea, pitting edema in legs, wheezing, dizziness, palpitations	CXR: displacement and widening of the carina, enlarged left atrium, elevated left main bronchus, Kerley B lines, cardiomegaly.	Tumorectomy with MVR by St. Jude mechanical valves	No postoperative complications, no symptoms
					ECG: afib, right axis deviation.
					TEE: thick, dome shaped mitral valve, hypermobile worm like mass (size = 104 mm) on aortic valve.

Pathophysiological factors contributing to fibroelastosis in RHD

Several pathophysiological mechanisms underlying fibroelastosis in RHD could plausibly contribute to the development of PFE, especially considering the shared environment of valvular damage, fibrosis, and increased mechanical stress^[8,14,15,20].

Endothelial dysfunction in RHD causing microthrombi formation

RHD triggers chronic inflammation, scarring, and endothelial damage to the valve^[15]. PFE is believed to develop from microthrombi that form on the damaged endocardial surface, particularly in areas with endothelial layer disruption^[23,24]. As a result, the injured and fibrosed valve surface in RHD may act as a likely site for thrombotic activity and reactive growth, creating conditions that could promote the formation of PFE.

Mechanical stress and shear forces

Valves affected by RHD often undergo abnormal thickening or stiffening and disorganized fibrosis, potentially increasing shear stress on the endocardial surface. It has been suggested that, in response to these elevated shear forces, the endocardial tissue may proliferate in a distinctive manner, resulting in the formation of avascular fronds at sites distant from normal areas of stress. These growths are classified as PFEs^[8,14,20].

PFE formation due to endocardial response to trauma

Progressive valvular damage and dysfunction, characteristic of RHD, with chronic valvular trauma, result in sustained hemodynamic injury. Unusual endocardial responses to this trauma may play a contributory role in the pathogenesis of PFEs in patients with RHD^[11,15,21].

These mechanisms are not exclusive to RHD or PFE alone; rather, they reflect a broader interplay of chronic inflammation, mechanical stress, and endothelial trauma that underpins valvular pathology in general, as shown in Figure 2. For example, studies have shown that similar processes may occur in patients with degenerative or post-surgical valvular lesions, further supporting a mechanistic bridge between sustained rheumatic injury and secondary fibroelastic proliferation^[6,20,22]. Recognizing this overlap helps clinicians better appreciate the potential for tumor development in structurally abnormal valves. Table 2 summarizes the comparison of the clinical and pathophysiological features of RHD and PFE, along with proposed links explaining their rare co-occurrence.

Figure 2.

Pathophysiology associated with RHD induced fibroelastosis.

Table 2.

Key clinical and pathophysiological aspects of RHD and PFE, outlining their distinct features and the hypothesized mechanisms underlying their rare coexistence

Feature	Rheumatic heart disease (RHD)	Papillary fibroelastoma (PFE)	Pathophysiological link
Cause	Immune response to streptococcal infection (post-rheumatic fever)	Benign cardiac tumor, likely from microthrombi or mechanical injury	RHD-induced fibrosis & endothelial damage may trigger microthrombi → PFE
Common site	Mitral valve (stenosis & regurgitation)	Aortic valve (most common), also mitral	Damaged valves provide substrate for fibroelastic growth
Affected population	Children & young adults in developing countries	Older adults (~60 yrs), both sexes equally	Rare co-occurrence reported (only 2 cases)
How it develops	Chronic inflammation, scarring, fibrosis, endothelial injury	Fibroelastic fronds develop on valve surface	Shear stress & injury from RHD create conditions for PFE
Symptoms	Breathlessness, palpitations, edema, chest pain	Often silent; may cause emboli, murmurs, obstruction	Both can cause valve dysfunction & embolic risk
Detection	Echocardiography (gold standard); auscultation in remote areas	Echocardiography (TTE/TEE), often incidental	TEE detects both conditions well
Microscopic findings	Fibrotic, thickened, fused valve leaflets	Endothelial-covered fronds with fibroelastic core	Both show fibrosis & endocardial changes
Complications	Heart failure, atrial fibrillation, pulmonary hypertension	Embolism, obstruction, sudden cardiac death	Combined damage increases surgical complexity
Treatment	Valve repair/replacement; catheter-based intervention (PTMC)	Surgical removal if symptomatic or mobile	Single-stage surgery for both preferred
Outcome	Progressive without treatment; improved with surgery	Excellent after excision	Good recovery reported after combined surgery

Screening and diagnostic approach

PFE is often asymptomatic^[18] and discovered incidentally, but certain clinical contexts warrant a focused diagnostic approach. Patients presenting with embolic events, unexplained stroke, or cardiac murmurs should undergo TTE^[2]. If suspicion remains or image quality is limited, TEE provides better sensitivity (Fig. 3). Cardiac CT or MRI can be used for further anatomical detail or tissue characterization. If a mobile mass >1 cm is detected, especially on left-sided valves, surgical consultation should be considered^[19].

Figure 3.

A screening flowchart guiding the evaluation of patients with suspected papillary fibroelastoma.

Differential diagnosis

Differential diagnosis includes various cardiac tumors, vegetation, Lambl’s excrescences, and thrombosis^[25].

PFEs are distinguishable from myxomas as myxomas, which are typically more common in females, usually arise from the left atrium and have a pedicle attached to the fossa ovalis^[6]. Histologic difference includes the presence of blood vessels and positivity for muscle-specific actin in myxomas^[30].

Benign tumors, such as rhabdomiomas or fibromas, can be differentiated from PFEs based on their appearance. However, metastatic or malignant tumors, which frequently involve the muscle or pericardium, are often detected through systemic symptoms^[31].

Infective endocarditis vegetations typically cause fever and other systemic indications of infection, which differentiates them from PFEs^[32].

Lambl’s excrescences are commonly seen with rheumatic valve disease^[32]. However, PFEs and Lambl’s excrescences have distinct compositions, sizes, and locations^[8,33,34]. Lambl’s excrescences differ from PFEs by having an acellular fibrous mass surrounded by fibrin and acid mucopolysaccharide matrix and a single endothelial layer^[33] and are frequently observed on prosthetic valves^[33,34]. Although there are some ultrastructural changes, Lambl’s excrescences and PFEs could be the endocardial response to shear forces^[33,34], proposing a shared origin.

Thrombi can be identified through an echocardiographic examination due to their laminated appearance, lack of stalks and pedicles, and uneven shape as opposed to PFEs^[8].

Diagnosis of PFE relies on detailed imaging, often beginning with TTE followed by TEE or cardiac MRI (CMR) if the mass is small, mobile, or attached to valve surfaces^[2,4,5].

Management

Management depends on the size, mobility, and symptoms of the tumor, as well as the severity of rheumatic valve disease. If the fibroelastoma is symptomatic or mobile, or if there is moderate to severe rheumatic valve involvement, a single-stage surgery is recommended. This includes removing the tumor, repairing or replacing the affected valve(s), and removing any clots with closure of the left atrial appendage if needed. This approach was used in both reported cases, with successful recovery and low risk of complications. For patients who are frail, decline surgery, or have a small, non-mobile, medical management with long-term warfarin and regular six-monthly echocardiography may be considered. While no strokes were seen over 5 years in one case, experts still lean toward surgery when possible due to the long-term risk of embolism^[17].

Current limitations and future implications

The simultaneous presence and interaction between RHD and PFEs is a relatively rare condition, with limited data available for large-scale studies, making it difficult to draw definitive conclusions. The variability in clinical presentation^[4,5,35] can further complicate both diagnosis and treatment. PFE, which is often asymptomatic, and RHD, which may share overlapping symptoms with other pathologies, add significant complexity to the diagnostic process^[4,5,36].

The rare co-occurrence of RHD and PFE underscores the need for advanced diagnostic methods. Improvements in echocardiography, CMR, and CT could enhance early detection^[5], with transesophageal echocardiography currently offering greater sensitivity for smaller PFEs. Research into the pathophysiological link between RHD and PFE could inform prevention and individualized treatment strategies. Development of less invasive procedures or combination surgeries could be a key area for improvement^[4]. Educating both patients and healthcare providers can improve patient outcomes through tailored, evidence-based approaches.

Conclusion

As mentioned earlier, the concurrent occurrence of rheumatic mitral valve associated with PFE of the aortic valve is highly unusual, with only two cases^[4,5] reported in the literature. While detecting PFE alone is often incidental, echocardiography is considered the gold standard for diagnosing both RHD and PFE. Surgical intervention is the preferred approach, involving tumorectomy along with valve repair or replacement, based on the extent of damage RHD has inflicted on the valves.

Future studies should be conducted to better understand the prevalence, geographic distribution, and demographic characteristics of patients with coexisting RHD and PFE. Investigations of cellular and molecular mechanisms underlying the association between RHD-induced valvular damage and PFE formation could reveal new insights into disease progression and the development of novel therapeutic interventions. Screening programs for the early detection of PFEs, particularly in regions where RHD is endemic, should be implemented to raise awareness and ensure timely management of this rare condition.

Ethical approval

Ethics approval was not required for this review.

Consent

Informed consent was not required for this review.

Sources of funding

No funding was received to assist with the preparation of this manuscript.

Author contributions

M.A.: Conceptualization of the study, writing – original draft, writing – review and editing. M.F.: Writing – review and editing. M.M.F.E.: writing – review & editing. All authors have read and approved the final version of the manuscript. The corresponding author takes complete responsibility for the integrity and accuracy of the data.

Conflicts of interest disclosure

There was no conflict of interest.

Guarantor

Mohammed Mahmmoud Fadelallah Eljack.

Research Registration Unique Identifying Number (UIN)

Not applicable.

Provenance and peer review

Not commissioned, externally peer-reviewed.

Data availability statement

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

Assistance with the study

None.