Papillary Fibroelastoma: Symptoms, Types, Causes and Treatment

Papillary fibroelastoma (PFE) is an uncommon cardiac tumor that, despite its benign nature, can pose serious health risks. Thanks to advances in cardiac imaging, notably echocardiography, PFEs are being diagnosed more frequently. This article provides a comprehensive overview of PFE, including its symptoms, types, causes, and contemporary treatment options, to help patients and healthcare professionals better understand this rare but important cardiac condition.

Symptoms of Papillary Fibroelastoma

Understanding the symptoms of papillary fibroelastoma is crucial, as these tumors can be silent for years or present dramatically with life-threatening complications. PFEs are notorious for their potential to cause embolic events—when fragments break off and travel to other parts of the body—leading to strokes, heart attacks, and other vascular issues. The subtlety and variety of symptoms often mean PFEs are discovered incidentally during imaging for unrelated concerns, but their clinical impact can be profound.

Symptom	Description	Prevalence/Notes	Source(s)
Stroke/TIA	Sudden neurological deficit	Common in symptomatic PFE	2 3 5
Myocardial infarction	Heart attack due to embolism	Less common	1 2
Sudden death	Unexpected cardiac arrest	Rare but possible	1 2
Heart failure	Shortness of breath, fatigue	Occasional	2 3
Syncope/Presyncope	Fainting or near-fainting episodes	Sometimes reported	2
Asymptomatic	No symptoms; found incidentally	Very common	3 4 5 6

Table 1: Key Symptoms of Papillary Fibroelastoma

Neurological Events

The most frequent symptomatic presentation of PFE is neurological, notably transient ischemic attacks (TIAs) and strokes. These occur when small fragments of the tumor or associated thrombi embolize to the brain, causing sudden weakness, numbness, speech difficulties, or loss of vision. As many as half of patients with surgical indication for PFE have a history of stroke or TIA 2 5.

Cardiac Symptoms

PFEs can also provoke cardiac symptoms if embolism affects the coronary arteries, leading to myocardial infarction (heart attack). Patients may present with chest pain, arrhythmias, or even sudden cardiac death in rare cases 1 2.

Other Systemic Symptoms

Less commonly, PFEs can cause emboli to other organs, resulting in blindness, peripheral embolism (painful limb or organ ischemia), or pulmonary embolism, especially if the tumor is on the right side of the heart 2.

Asymptomatic Presentation

Despite these potential dangers, many PFEs are asymptomatic. They are often found incidentally during echocardiography performed for unrelated reasons or during cardiac surgery for other indications 3 4 5 6. Even so, the risk of silent embolic events remains.

Types of Papillary Fibroelastoma

PFEs are not all alike. Their location, size, and number can influence both their risk and management. While all PFEs are benign by pathology, they exhibit variations that are important to recognize.

Type	Main Characteristics	Frequency/Location	Source(s)
Valvular	Attached to heart valve (esp. aortic)	Most common (esp. aortic valve)	2 3 5
Non-valvular	On endocardial surfaces (e.g., LV)	Less common, often LV	2 3
Solitary	Single lesion	Most cases	4 6
Multiple	Two or more lesions	Rare	4 6

Table 2: Types of Papillary Fibroelastoma

Valvular PFEs

The vast majority of PFEs are found on the cardiac valves, most notably the aortic valve, followed by the mitral, tricuspid, and pulmonary valves. These tumors often have a characteristic sea-anemone appearance on echocardiography 2 3 5.

Non-Valvular PFEs

A minority of PFEs arise from other endocardial surfaces, such as the left ventricular outflow tract or the interventricular septum. These are less common but can still pose similar risks, especially if mobile 2 3.

Solitary versus Multiple Lesions

Most PFEs are solitary, meaning only one tumor is present. Multiple lesions are rare but have been documented, sometimes involving multiple valves or cardiac structures in the same patient 4 6.

Size and Mobility

PFEs range in size from a few millimeters up to several centimeters, but even small tumors can be dangerous if they are mobile, as mobility is the strongest predictor of embolic complications 2.

Causes of Papillary Fibroelastoma

The exact cause of papillary fibroelastoma remains unclear. Unlike some other cardiac tumors, PFEs are not associated with well-defined risk factors or inherited syndromes. Nonetheless, understanding what is known—and not known—about their origins can help guide research and patient discussions.

Cause/Factor	Description	Evidence/Notes	Source(s)
Unknown/Idiopathic	No clear cause identified	Most cases	2 4
Age	Higher prevalence in older adults	8th decade peak	2 4
Mechanical factors	Possible role of valve trauma/wear	Theoretical, unproven	4
Not inherited	No familial patterns or syndromes	N/A	2 4

Table 3: Theories and Known Causes of PFE

Idiopathic Nature

The overwhelming majority of PFEs are considered idiopathic, meaning no specific cause can be identified. There are no established genetic, infectious, or environmental risk factors directly linked to their development 2 4.

Age-Related Prevalence

PFEs are most commonly diagnosed in older adults, with peak prevalence in the eighth decade of life. This suggests that aging tissues or age-related changes in the heart may be a factor, though no direct cause-effect relationship has been proven 2 4.

Theories: Mechanical Stress and Trauma

Some researchers have speculated that repetitive mechanical trauma or wear-and-tear on the valves could play a role, particularly given the predilection for the aortic and mitral valves. However, there is little direct evidence supporting this hypothesis 4.

Absence of Inherited Patterns

Unlike some other cardiac tumors, such as myxomas (which can be familial), PFEs do not run in families and are not associated with genetic syndromes 2 4.

Treatment of Papillary Fibroelastoma

The management of PFE is tailored according to symptom status, tumor characteristics, and patient risk profile. While PFEs are benign, the threat of embolic complications often prompts intervention. Surgical resection remains the mainstay of therapy, but decision-making can be nuanced, particularly for incidentally discovered tumors.

Treatment	Indication/Approach	Outcome/Notes	Source(s)
Surgical excision	Symptomatic or mobile/asymptomatic PFE	Curative, low risk	2 3 4 5 6
Valve preservation	Preferred if feasible	Shave excision common	3 5 6
Anticoagulation	Non-surgical candidates (symptomatic)	Unproven benefit	2
Observation	Asymptomatic, non-mobile PFE	Regular follow-up	2 4

Table 4: Treatment Approaches for Papillary Fibroelastoma

Surgery: The Gold Standard

For symptomatic patients (those with stroke, TIA, embolism, or heart failure), surgical excision of the tumor is the recommended and definitive treatment. Surgery is also favored in asymptomatic patients if the tumor is mobile or located on the left side of the heart, given the high risk of embolic complications 2 3 4 5 6.

• Approach: Most surgeries involve a "shave excision," removing the tumor while preserving the native valve whenever possible.
• Outcomes: Surgical mortality is very low (close to 0%), and recurrence rates are rare but can occur, especially in the long term 3 5 6.
• Valve Replacement: Rarely required unless underlying valve disease coexists 3 5.

Anticoagulation

For patients who are not surgical candidates due to comorbid conditions or advanced age, long-term oral anticoagulation may be considered. However, the effectiveness of this approach is not established in controlled trials 2.

Observation and Follow-Up

In select asymptomatic patients with small, non-mobile PFEs, a conservative approach with regular clinical and echocardiographic follow-up may be appropriate. Surgery is considered if the tumor becomes symptomatic or exhibits increased mobility 2 4.

Special Considerations: Right-Sided Lesions

Right-sided PFEs carry a lower risk of systemic embolization but can still cause pulmonary embolism. The decision to operate is individualized, weighing the risks and benefits in each patient 6.

Conclusion

Papillary fibroelastoma is a rare but clinically significant cardiac tumor. Although benign by nature, its risk of embolic complications makes timely recognition and management essential.

Key Points:

• PFEs often present with embolic complications such as stroke, TIA, or myocardial infarction but are frequently asymptomatic and found incidentally 1 2 3 4 5 6.
• Most PFEs are solitary, valvular (especially aortic valve), and occur in older adults 2 3 4 5 6.
• The exact cause remains unknown, with no clear risk factors or familial patterns identified 2 4.
• Surgical excision is safe, effective, and curative for most patients, with valve preservation prioritized when possible 2 3 4 5 6.
• Asymptomatic, non-mobile PFEs may be monitored, but surgery is generally advised for symptomatic or mobile tumors due to the risk of embolic events 2 3 4 5 6.

Timely detection and individualized management remain the cornerstones of optimizing outcomes in patients with papillary fibroelastoma.