What are the other Names for this Condition? (Also known as/Synonyms)

• Cardiac Epithelioid Haemangioendothelioma
• Primary Cardiac EHE
• Primary Epithelioid Hemangioendothelioma of Heart

What is Primary Cardiac Epithelioid Hemangioendothelioma? (Definition/Background Information)

• An epithelioid hemangioendothelioma (EHE) is a tumor involving the blood vessels and surrounding epithelioid cells. The blood vessels are lined by epithelioid cells, which grow abnormally to form the tumor
• Primary Cardiac Epithelioid Hemangioendothelioma is a low-grade malignant tumor that is extremely rare. Some studies indicate that the tumor may be of intermediate-grade. The tumor may occur as a single mass or multiple masses and may affect individuals of any age category
• It is known as a primary tumor, since it first arises in the heart; later on, it can involve or spread to other parts of the body. Currently, the cause of Primary Cardiac Epithelioid Hemangioendothelioma is not known, but sometimes, an association with myelodysplastic syndrome has been observed
• The signs and symptoms of Primary Cardiac Epithelioid Hemangioendothelioma may include chest pain, labored breathing, and obstruction of blood flow. The tumor is known to metastasize and can recur following its surgical excision and removal
• Combinations of surgery, radiation therapy, and/or chemotherapy are used in the treatment of Primary Cardiac Epithelioid Hemangioendothelioma. Due to its potential for metastasis and high recurrence following surgery, the prognosis of Cardiac EHE is guarded
• Besides, due to the extreme rarity of the tumor, the prognostic information is not readily available. However, it is believed that EHE heart tumor behavior reflects other similar tumors of the heart

Who gets Primary Cardiac Epithelioid Hemangioendothelioma? (Age and Sex Distribution)

• Primary Cardiac Epithelioid Hemangioendothelioma is a highly infrequent tumor with only about 10-15 cases recorded so far in the medical literature
• The tumor may occur in individuals of all age group. Generally, epithelioid hemangioendothelioma peak age is during teenage and young-adult period
• The tumor affects both genders (males and females)
• There is no predilection to any ethnic group or a particular race

What are the Risk Factors for Primary Cardiac Epithelioid Hemangioendothelioma? (Predisposing Factors)

The following risk factors are suggested for Primary Epithelioid Hemangioendothelioma of Heart:

• Any developmental tissue abnormality involving the soft tissues of the heart could be a risk factor
• Some cases have been seen with myelodysplastic syndrome (MDS)

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Primary Cardiac Epithelioid Hemangioendothelioma? (Etiology)

• The exact cause of Primary Cardiac Epithelioid Hemangioendothelioma development is unknown; they are thought to occur spontaneously
• It is suggested that the tumor may be related to abnormal blood vessel proliferations originating from the veins, due to unknown reasons

What are the Signs and Symptoms of Primary Cardiac Epithelioid Hemangioendothelioma?

The presentations are based on the location and size of the tumor in the heart. The signs and symptoms of Primary Cardiac Epithelioid Hemangioendothelioma may include:

• They may grow at a slow rate and appear as painless, irregular, and nodular masses
• The tumors may be well-defined, single or multiple nodules
• If large tumors are present, it may cause chest pain, breathing difficulties, fatigue, and obstruction of blood flow
• It can be locally aggressive and damage the surrounding tissues
• EHE can be observed at any location in the heart

How is Primary Cardiac Epithelioid Hemangioendothelioma Diagnosed?

A diagnosis of Primary Cardiac Epithelioid Hemangioendothelioma is made using the following tools:

• Complete evaluation of family (medical) history, along with a thorough physical examination; including examination of the heart
• X-ray studies of the chest
• Chest CT and MRI scan of the heart
• Electrocardiogram (EKG): It is used to measure the electrical activity of the heart, in case of arrhythmias
• Transthoracic echocardiography (TTE): This procedure uses sound waves to create a motion picture of the heart movement
  • It can help show the size and shape of the heart and how well the chambers and valves are working
  • It can also help visualize the tumors, especially the large tumors; 1 mm and lesser-sized tumors may not be visible though
• Doppler ultrasound: Sound waves are used to measure the speed and direction of blood flow
• Tissue biopsy of the tumor:
  • A tissue biopsy of the nodule is performed and sent to a laboratory for a pathological examination. A pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis. Examination of the biopsy under a microscope by a pathologist is considered to be gold standard in arriving at a conclusive diagnosis
  • Biopsy specimens are studied initially using Hematoxylin and Eosin staining. The pathologist then decides on additional studies depending on the clinical situation
  • Sometimes, the pathologist may perform special studies, which may include immunohistochemical stains, molecular testing, and very rarely, electron microscopic studies to assist in the diagnosis
• PET scans may be used to determine the extent of tumor spread in the body

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Primary Cardiac Epithelioid Hemangioendothelioma?

Complications of Primary Cardiac Epithelioid Hemangioendothelioma may include:

• Congestive heart failure, depending on the location of the tumor in the heart
• Increased risk for thromboembolism (blood clot obstructing a blood vessel)
• Metastasis of the tumor to other sites in the body; 1 in 5 tumors are known to metastasize
• Recurrence of Epithelioid Hemangioendothelioma after surgery; about 35% are known to recur
• Complications during surgery:
  • Blood loss during invasive treatment methods may be heavy; blood may accumulate outside the blood vessels causing hematomas
  • Damage to vital nerves, blood vessels, and surrounding structures 
• Side effects from chemotherapy (such as toxicity), radiation therapy

How is Primary Cardiac Epithelioid Hemangioendothelioma Treated?

Treatment measures for Primary Cardiac Epithelioid Hemangioendothelioma may include the following:

• Any combination of chemotherapy, radiation therapy, and invasive procedures (surgery), may be used treat the tumor
• Surgery: Complete excision where possible is attempted; although, it is hard to remove the tumor entirely
• Embolization (clotting the vessels in the tumor) may be used to provide temporary relief from the symptoms and reduce blood loss during a surgical procedure
• Heart transplantation may be undertaken in some rare cases, if necessary
• Follow-up care with regular screening and check-ups are important

How can Primary Cardiac Epithelioid Hemangioendothelioma be Prevented?

• Current medical research have not established a way of preventing Epithelioid Hemangioendothelioma of Heart formation
• Regular medical screening at periodic intervals with blood tests, radiological scans, and physical examinations are mandatory for those, who have already endured the tumor, due to its metastasizing potential and chances of recurrence. Often several years of active vigilance is necessary

What is the Prognosis of Primary Cardiac Epithelioid Hemangioendothelioma? (Outcomes/Resolutions)

• Epithelioid Hemangioendothelioma of Heart is an extremely rare, low-grade malignancy with metastasizing potential. Currently, specific information on the tumor behavior and prognostic values are unavailable
• The prognosis of similar tumors depend on a combination of factors, such as initial detection of the tumor, size and location, whether it has metastasized, its response to treatment, and medical therapy administered
• The prognosis for Epithelioid Hemangioendothelioma of Heart is generally guarded and it is dependent upon many factors
• The probability of recurrence is high at nearly 35% on it surgical removal. Hence, regular follow-ups are required

Additional and Relevant Useful Information for Primary Cardiac Epithelioid Hemangioendothelioma:

• Primary tumors of heart are rare and they account for only 5% of heart tumors. Metastatic tumors to the heart are far more common
• The most common location of epithelioid hemangioendothelioma (EHE) is the liver
• Generally, it is difficult to manage epithelioid hemangioendotheliomas, due to the following factors:
  • The extreme rarity of the tumor
  • Its differential behavior
  • A lack of standardized treatment guidelines in the medical literature