How is a cardiac rhabdomyoma diagnosed?
A cardiac rhabdomyoma is diagnosed through imaging tests. These tests can take place during pregnancy or after birth.
Tests to diagnose cardiac rhabdomyoma
The tumor is often first identified through prenatal ultrasound. The tumor becomes visible on the ultrasound between weeks 20 and 30 of pregnancy. It may also be diagnosed through a fetal echocardiogram. This is a form of ultrasound that checks specifically for heart problems before a baby is born.
Tests that diagnose and evaluate a cardiac rhabdomyoma after a baby is born include:
- Electrocardiogram (EKG).
- Echocardiogram (echo).
- Magnetic resonance imaging (MRI).
Your child may need some tests like an EKG and echo regularly. Your provider will check on the tumors and make sure they’re going away. Tumors that don’t go away on their own will need treatment.
A cardiac rhabdomyoma is often the first sign of tuberous sclerosis. Your child may need further testing to check other parts of their body for signs of tuberous sclerosis.
If your child is diagnosed with tuberous sclerosis, talk with your provider about genetic testing. Sometimes parents have a mild form of the condition but were never diagnosed. So, your provider may want to see if you or your partner have the genetic mutation that causes the condition.