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

• Rhabdomyoma of Heart

What is Cardiac Rhabdomyoma? (Definition/Background Information)

• Cardiac Rhabdomyoma is a benign tumor of the heart muscle (cardiac myocyte) that is generally diagnosed in infants and very young children. The tumor can be single or multiple and is commonly found in the heart ventricles (lower chambers of the heart)
• When multiple tumors are present, Cardiac Rhabdomyoma typically occurs against a background of tuberous sclerosis (a rare genetic disorder characterized by benign tumor growths in important organs of the body including the heart and brain)
• Depending on their size and numbers, Cardiac Rhabdomyoma may cause heart dysfunction and cardiac arrhythmias; though in many individuals, there may not be any signs and symptoms. Since this abnormality can occur during the fetal growth and development stage, it is known to cause intrauterine fetal deaths or sudden deaths following the baby’s birth
• The diagnosis of Cardiac Rhabdomyomas might necessitate a thorough physical evaluation by a healthcare provider, imaging studies of the heart, and a few specialized tests to evaluate heart function
• Generally, small-size tumors that are asymptomatic may require no treatment, apart from close observation. Large-size tumors that cause significant signs and symptoms may be surgically removed. In many children, a spontaneous regression of the tumors are noted
• The prognosis is generally good for asymptomatic Cardiac Rhabdomyomas and those that disappear on their own without treatment. However, the prognosis is also linked to factors such as tumor size, numbers, and location. The overall outcome may also depend upon the successful treatment of the underlying tuberous sclerosis (if present)

Who gets Cardiac Rhabdomyoma? (Age and Sex Distribution)

• The incidence of Cardiac Rhabdomyoma is 1 in 20,000 births
• The condition is observed in infants and children; majority are diagnosed before the child reaches 12 months of age
• Both males and females are affected and no gender preference is observed
• All races and ethnic groups are at risk for Rhabdomyoma of Heart

What are the Risk Factors for Cardiac Rhabdomyoma? (Predisposing Factors)

Some risk factors for Cardiac Rhabdomyoma include:

• Tuberous sclerosis:
  • It is a genetic disorder affecting multiple organs; it causes the formation of benign tumors in the heart, kidneys, brain, and other organs
  • About one-third of individuals with tuberous sclerosis have Cardiac Rhabdomyoma
  • In fact, the presence of multiple rhabdomyomas may be the first indication of tuberous sclerosis in some individuals (presenting signs and symptoms)
• The risk factors for sporadic tumors are currently unidentified

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 Cardiac Rhabdomyoma? (Etiology)

The cause of development of Cardiac Rhabdomyoma is generally unknown.

• Single or solitary tumors are known to occur sporadically
• The presence of multiple tumors is observed to be linked to tuberous sclerosis; a complex genetic disorder causing the formation of tumors in vital organs of the body
• Research is currently being undertaken to identify the relevant causal factors

What are the Sign and Symptoms of Cardiac Rhabdomyoma?

The signs and symptoms depend on the location of the tumor, the number of tumors, and the size of the tumor. There may be a single tumor, known as Solitary Cardiac Rhabdomyoma; or, there may be multiple tumors, known as Multiple Cardiac Rhabdomyoma. In many, the condition is asymptomatic.

The common signs and symptoms of Cardiac Rhabdomyoma may include:

• Small, benign tumors affecting the heart muscles do not cause any significant signs and symptoms
• The tumor size ranges from a few mm to 10 cm (in sporadic cases, when a single tumor is observed)
• Cardiac Rhabdomyomas can occur both in the atrial chambers and ventricular chambers of the heart. But, it is usually more common in the ventricles than the atrium
• Against a background of tuberous sclerosis, multiple tumors are observed, which can measure as small as 1 mm in size. In such cases, it is also called rhabdomyomatosis
• Large tumors can block the flow of blood in the heart causing heart dysfunction
• Both small and large tumors can cause arrhythmia (irregular heartbeat)
• Signs and symptoms of lung failure that include acute shortness of breath, tiredness, confusion, and restlessness
• Signs and symptoms of heart failure that include cyanosis (bluish skin), breathing difficulties, fluid in the legs, abnormal heart rate
• Signs and symptoms of underlying tuberous sclerosis

How is Cardiac Rhabdomyoma Diagnosed?

In order to accurately diagnose Cardiac Rhabdomyoma, a healthcare professional may need information from the following tests and exams:

• Complete evaluation of medical history, along with a thorough physical examination; including examination of the heart (with special emphasis to signs such as abnormal heart sounds)
• Electrocardiogram (EKG): It is used to measure the electrical activity of the heart, in case of arrhythmias
• CT or MRI scan of the heart
• Electron microscopy in rare cases
• Echocardiography: 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
  • Cardiac Rhabdomyoma can be diagnosed in a developing fetus through fetal echocardiography
• Doppler ultrasound: Sound waves are used to measure the speed and direction of blood flow
• Electrophysiological studies to determine where arrhythmia is getting generated in the heart, is often helpful
• Genetic mutational analysis to determine the presence of tuberous sclerosis

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 Cardiac Rhabdomyoma?

Some potential complications of Cardiac Rhabdomyoma include:

• Large tumors can cause compress the heart and severely affect its function
• Rarely, these tumors can become malignant resulting in rhabdomyosarcoma of heart
• Some tumors are associated with certain congenital abnormalities of the kidneys
• Intrauterine fetal demise
• Sudden death of the newborn following birth
• Complications that arises due to underlying tuberous sclerosis

How is Cardiac Rhabdomyoma Treated?

In many cases, it is not uncommon that small tumors may disappear over time without any treatment. This is known as spontaneous regression of Cardiac Rhabdomyoma. Generally, large tumors causing significant signs and symptoms may need to be surgically removed.

Cardiac Rhabdomyoma may be treated through the following measures:

• The healthcare provider may chose to closely monitor small tumors that present no signs and symptoms
• For children with arrhythmias, anti-arrhythmic medication can be given. In case the tumors regress, the arrhythmias also get better and may completely disappear
  • In such cases (and in a majority of individuals), the anti-arrhythmic medication can be stopped and is not required to be taken lifelong
  • If the arrhythmia persists for a long period of time, then surgical treatment measures may be considered
• Invasive procedures may be required on large tumors with significant signs and symptoms
• Treatment of underlying tuberous sclerosis
• Observation and periodic checkups to monitor the condition is recommended

How can Cardiac Rhabdomyoma be Prevented?

Presently, the sporadic cases of Cardiac Rhabdomyoma cannot be prevented. Also, there are no specific methods or guidelines to prevent tumor formation, if it occurs in association with tuberous sclerosis, which is a genetic condition.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as tuberous sclerosis

What is the Prognosis of Cardiac Rhabdomyoma? (Outcomes/Resolutions)

• The prognosis of Cardiac Rhabdomyoma depends upon the location, size, and number of tumors
• In many, the small tumors disappear on its own and the prognosis of good
• If Cardiac Rhabdomyoma is large, prognosis depends on severity of underlying signs and symptoms. Sporadic large tumors often have good prognosis upon their surgical removal

Additional and Relevant Useful Information for Cardiac Rhabdomyoma:

 The following article link will help you understand other heart conditions:

http://www.dovemed.com/healthy-living/heart-center/