Myxoma Syndrome: Causes, Symptoms, Treatment, Prognosis, Pathophysiolgy
Heart is the main organ of our body, which pumps blood to be circulated in our body. When this important organ becomes diseased, it cannot function optimally. Cardiovascular diseases (CVD) are the most prominent cause of major heart problems. Apart from this, there are various problems of the heart experienced by individuals like weak muscles, clot etc. Although rare, the occurrence of the tumor of the heart does take place and is known as myxomas.
What is Myxoma Syndrome?
Myxoma means tumor of the heart. It is primarily noncancerous (benign) growth of cells of the heart which occurs very rarely. Myxoma syndrome means a group of diseases with myxoma and lentigines (pigmented spots on the skin).
Most heart tumors are due to cancers migrated from other parts of the body; while myxomas are usually benign, however, cancerous changes can occur in cases of recurrence. Most of the myxomas are found in the left atrium and it is uncommon to find myxoma in the ventricles. It occurs in the interatrial septum or endocardium of the heart. Presence of these tumors may cause hindrance of the blood flow to the heart giving rise to symptoms. Myxoma occurs in two general shapes as a round, firm mass or in the form of an irregular mass with jelly like consistency. Internally, the tumor cells are spindle shaped and embedded in matrix rich in mucoplysaccarides.
The other part of syndrome includes:
- LAMB which means lentigines, artial myxoma, mucocutaneous myxomas and blue naevi.
- NAME which means naevi, atrial myxomas, myxoid neurofibroma and freckles.
- Carney syndrome includes atrial and mammary myxomas, lentigines, blue naevi and endocrine disorders.
Characteristic Features or Symptoms of Myxoma Syndrome
Although most myxoma syndrome patients do not exhibit any symptoms, some patients do show. This occurs due to the obstruction to the blood flow by the tumors. These symptoms of myxoma syndrome include fainting, breathlessness (especially when in the sleeping position), palpitations, chest pain, coughing, fever, dyspnea and pulmonary edema.
In addition, some myxoma syndrome patients also show weight loss, anemia, increased white blood count and decreased platelet count, blueness of skin, swelling of the fingers and any other part of the body and joint pain.
Further due to embolism, depending on which artery has been blocked, the symptoms of myxoma syndrome can vary. It leads to stroke when the artery of the brain is blocked, while if artery of the lung is clogged it causes pain and coughing of blood.
Myxoma Syndrome Symptoms Associated with Other Syndromes:
- LAMB: Presence of atrial myxomas. The pigmented lesions of 1 cm are observed on lips, face, sclera and vulva. There are papules or nodules present on different parts of the body along with dark blue moles at any place of the body.
- NAME: Symptoms are similar to LAMB syndrome. They have an additional myxoid neurofibroma and freckles, which usually appear at birth. Lesions vary from dark brown and occur on neck, trunk and thighs.
- Carney Complex: Myxomas are found on the eyelids, scalp, ears, neck, truck and limbs. The pigmented lesions are present all over the body. There is over activity of endocrine glands.
Epidemiology of Myxoma Syndrome
Myxoma syndrome occurs very rarely. It is found more in females than in males. They have been reported in patients aged 3-80 years. They are found of three different types as: Sporadic cardiac myxomas, familial cardiac myxomas and complex cardiac myxomas. The mean age of sporadic myxomas is 56 years and for familial myxomas is 25 years. Most of these are found as solitary mass while familial myxomas occur as multiple tumors. These tumors vary in size ranging from 1-15 cm in diameter and their rate of growth is not known.
Prognosis of Myxoma Syndrome
In some patients with myxoma syndrome, sudden death may occur due to embolism caused by the tumors. However, when the tumor is totally removed by surgical resection the patient shows a good recovery. Since these tumors are benign, there is very little chance that it will metastasize. However, if the surgery has not removed tumor completely, then its chance of recurrence are high (although after a long time). The rate of recurrence in case of sporadic and familial myxomas is 1-5% and 20%, respectively.
Causes and Risk Factors of Myxoma Syndrome
The causative agent of myxoma syndrome is also not known. They develop sporadically. Reports reveal that 10% of myxoma show familial inheritance pattern (autosomal dominant gene mutations) and occur more in ventricles than atrium. Familial myxomas are commonly observed in younger patients. Mutations in PRKAR1 A gene have been implicated in causing familial myxoma syndrome only.
Pathophysiology of Myxoma Syndrome
Myxomas account for 40-50% of the cardiac tumors. These are the primary tumors which have arisen in the heart cells. The genetic changes or mutations take place in the normal heart cells in the form of the gain of oncogenes and loss of tumor suppressor genes. This leads to uncontrolled proliferation and forms an abnormal mass of cells leading to tumors. However, these are non-malignant or aggressive. They are vascular tumors which obtain blood supply from coronary artery. They, generally, do not migrate or metastasize to other places of the body.
Complications of Myxoma Syndrome
The complications of myxoma syndrome include:
- Irregular heart beat
- Heart failure
- Embolism (pieces of tumor get separated from the main tumor and block the blood flow through the arteries)
- Blockage of mitral value
- Metastasis, which is very rare.
Diagnosis of Myxoma Syndrome
The doctor performs the physical examination and will check the heart beat by means of a stethoscope. The further imaging tests include:
- Chest X-Ray
- Computed tomography (CT scan)
- Heart Magnetic Resonance Imaging (MRI)
Blood tests include:
- Complete blood count (CBC) which might indicate increased WBC's
- Erythrocyte sedimentation rate (ESR) - may be increased.
Treatment of Myxoma Syndrome
Since myxoma is a tumor, the only treatment for it is to remove it surgically. Medications can be given to decrease the symptoms of myxoma syndrome. After surgery, the patient has to do echocardiography periodically for 5 years to ensure that there is no recurrence of myxoma.
The skin related problems such as cutaneous lesions can be removed using various skin related treatment such as chemical peels, cryotherapy, laser treatment or surgical resection. Topical application of retinoids and hydroquinone cream has proved beneficial.
Myxomas are rare tumors, which occur in the heart especially in the left atrium. The only treatment available is to remove them surgically to avoid the complications due to their existence. The surgery needs to be performed with utmost care to prevent complications in future.