Rhabdomyoma

What are the signs and symptoms of rhabdomyoma?

Rhabdomyoma can affect how well blood pumps through the heart. Depending on the size of the tumors, children born with cardiac rhabdomyomas may experience symptoms such as:

• Irregular heart rhythms (arrhythmias)
• Heart murmur
• Heart failure

In rare cases, a tumor grows large enough to block blood flow to the heart during fetal development. This can result in a condition called fetal hydrops. Hydrops are spots where fluid collects (around the heart or other areas of the body). Hydrops develops because of heart failure and is fatal in 50% of cases.

What tests are used to diagnose rhabdomyoma?

Your obstetrician (OB) or primary care doctor may detect rhabdomyoma during routine prenatal (before birth) screenings. If they suspect tumors, they may recommend additional testing by a fetal medicine specialist to confirm the diagnosis. Tests that look at the fetal heart and measure blood flow and heart rhythms can help diagnose rhabdomyoma during pregnancy.

The Colorado Fetal Care Center provides moms-to-be with world-class care. Our fetal care specialists are all experts in their fields. Our sonographers and MRI technicians are specially trained to detect tumors in the heart and elsewhere in the body. We provide advanced testing, including:

• Fetal echocardiogram to look for cardiac rhabdomyomas
• Fetal ultrasound to detect tumors and look at blood flow
• Fetal MRI to find tumors in other areas of the body

If these imaging tests detect tumors, we will recommend genetic testing for tuberous sclerosis.

What can I expect from rhabdomyoma testing?

Fetal echocardiogram, ultrasound and MRI are painless, noninvasive tests. Your doctor will meet with you the same day to go over the results. This allows you to leave the hospital with a care plan in place.

If you have genetic testing, you can expect results in a week or two. A genetic counselor will go over the results with you and explain what the findings mean for you and your baby.

How is rhabdomyoma treated?

In many cases, rhabdomyomas shrink and disappear on their own during a child’s first few years of life. If your child has these tumors, we will monitor their heart and overall health closely throughout your pregnancy and after birth.

Children born with rhabdomyomas receive regular echocardiograms and electrocardiograms to evaluate blood flow and measure heart rhythms. If testing detects any blockages or arrhythmias, our expert pediatric cardiologists will recommend the best treatments.

If a cardiac rhabdomyoma blocks blood flow to the baby’s heart before birth, we can use medication to shrink the tumor. We use surgery after birth to remove tumors only in very rare cases.

Children who also have tuberous sclerosis require close monitoring. The location of the tumors determines what type of treatment they’ll need. The team of specialists at our Tuberous Sclerosis Clinic works together to provide individualized care to best meet each child’s needs.

Why choose us for treatment of rhabdomyoma?

When you come to Children’s Hospital Colorado for diagnosis and treatment of rhabdomyomas, you can rest assured that you and your baby will receive the best care possible. We offer:

• Comprehensive prenatal testing: Finding out that your baby has rhabdomyoma is challenging. But our fetal care team is here to help you get an accurate diagnosis and have a healthy pregnancy and a safe birth.
• Pediatric cardiac intensive care unit: If your baby is born with heart failure or other complications from rhabdomyoma, they may spend time in the cardiac intensive care unit (CICU). This specialized facility features a full team of specialists who care only for children with heart complications.
• Specialized cardiac care: Our hospital offers one of the largest and most experienced pediatric cardiology programs in the nation. If your child needs continued treatment for heart complications, they’ll be in some of the most capable hands in the country.
• Multidisciplinary tuberous sclerosis team: Children with tuberous sclerosis need ongoing monitoring and treatment. Our tuberous sclerosis clinic includes specialists — neurologists, pulmonologists, dermatologists and others — who work together to provide comprehensive care.

Helpful resources

To schedule an appointment with our Fetal Care Center, please call 720-777-4463.

For more information about our Tuberous Sclerosis Clinic, call 855-543-4636.

Find out more about tuberous sclerosis:

• The Tuberous Sclerosis Alliance is on a mission to find a cure for TSC and improve the lives of those affected.
• The Genetics Home Reference is the US National Library of Medicine’s guide to understanding genetic conditions.