Tuberous sclerosis complex (TSC), also known as sclerosis tuberosa, is a rare, inherited condition. It causes noncancerous tumors to form in various parts of the body, including the heart.
This is why babies with TSC disease are sometimes born with tumors in their heart. However, these heart tumors often get smaller or disappear as children grow.
Many people won’t need any treatment for these heart tumors. Some people might need medicine. Very rarely, people need surgery to remove the tumors.
Why Do Heart Tumors Develop With TSC?
TSC is a genetic disease. This means a parent passes down a gene that causes it, such as the TSC1 or TSC2 gene. It’s a condition that causes tumors to form in organs throughout the body.
It’s called tuberous sclerosis because the tumors are tuber-like (tuber means potato) in shape. TSC tumors are benign, not cancerous.
TSC tumors often develop in the brain but can form in other places, too. The heart is another common area for tumors.
People with TSC have heart tumors called cardiac rhabdomyomas. They can form anywhere in the heart. In fact, a baby might have several heart tumors in different places.
It’s important to note that these heart tumors don’t spread. They’re also usually at their biggest at birth. For most babies, their heart tumors shrink as they grow.
Heart tumors associated with TSC are unlike other TSC tumors. They’re the only type of TSC tumor known to get smaller. They can completely disappear in between screenings.
What Kinds of Problems Can Cardiac Rhabdomyomas Cause?
Most babies with heart tumors don’t have any symptoms. Sometimes, though, the tumors can cause problems.
Cardiac tumors from TSC can form anywhere in the heart. A large one can affect blood flow because oxygenated blood can’t circulate around the body if the tumor blocks blood flow.
Babies might have a blue tinge to their skin and lips when this happens. Doctors refer to this condition as cyanosis and will closely monitor it.
TSC heart tumors can also cause problems with the heart’s electrical system. This can make the heart beat too quickly or too slow. Sometimes, these abnormal heart rhythms can cause chest pain or fainting.
Many of these problems disappear as a baby grows because the tumors shrink. It’s rare, but sometimes, a child with TSC heart tumors will need surgery.
What Do Doctors Usually Do About TSC Heart Tumors?
Cardiac rhabdomyomas can help doctors diagnose TSC. In fact, cardiac rhabdomyomas are often one of the first signs of TSC.
Doctors often find these tumors while the baby is still in utero. Early diagnosis helps ensure a baby gets the proper care from the moment they’re born.
The treatment of TSC heart tumors depends on their location and size. For most babies, the tumors quickly start to shrink. Your medical team will monitor the tumors closely.
An echocardiogram (heart ultrasound) is the quickest and easiest way to measure tumors. It’s painless and noninvasive.
When the tumors show signs of getting smaller, people only need an echocardiogram every one to three years. After the tumors have shrunk or disappeared completely, your doctor may or may not suggest further monitoring.
For many people, cardiac rhabdomyomas shrink to the point that they’re no threat.
If the heart tumors cause problems in the short term, doctors may prescribe medicine. If the problems are serious, they may suggest surgery. However, this isn’t the case for most cardiac rhabdomyomas.
Some people with TSC may have longer-term problems related to cardiac rhabdomyomas, but this is uncommon.
What Other Problems Can TSC Cause?
Tuberous sclerosis acts differently in different people. Some people have severe symptoms, and others are less affected.
TSC can cause tumors in the brain, kidneys, and lungs. These can become life-threatening, depending on size and type. For example:
- About 70% to 80% of people with TSC have kidney cysts or growths. These growths usually don’t cause problems but can cause pain and kidney issues.
- Brain tumors related to TSC can affect brain function in many ways. They can block the flow of brain fluid and cause vision problems.
- Women are more likely than men to get lung cysts with TSC — a condition called LAM, which stands for lymphangioleiomyomatosis. It’s mild in some people but severe in others.
TSC can also cause:
- Behavioral issues — Kids with TSC may have attention deficit hyperactivity disorder (ADHD) or aggressive or obsessive behaviors. Sometimes, they self-harm. There’s also a relationship between autism spectrum disorder and TSC.
- Cognitive issues — As many as two-thirds of people with TSC experience some developmental delays. This includes anything from mild learning disabilities to more severe problems.
- Seizure disorders — A large percentage of people with TSC have seizures; these range in type and severity.
- Skin problems — These include skin pigment issues, spots and bumps, and patches of leathery skin. Some people with TSC also develop small tumors under their fingernails and toenails.
What’s the Bottom Line About TSC and Heart Tumors?
If TSC is affecting your family, make sure you have a good care team in place. UPMC Children’s Hospital of Pittsburgh has a specific Tuberous Sclerosis Clinic. Here, we care for children and adults with TSC.
It’s important to go to a place where all the specialists collaborate because TSC affects many areas.
When it comes to TSC and heart tumors, the key things to remember are:
- For cardiac rhabdomyomas that cause problems, doctors have ways to treat them.
- Heart tumors, called cardiac rhabdomyomas, are often the first sign of TSC in babies.
- Many cardiac rhabdomyomas shrink altogether and never cause any problems.
- TSC heart tumors aren’t cancerous.
- TSC heart tumors are often large when a baby is born and then shrink as the baby grows.
- TSC is a complex condition that requires lifelong care or monitoring.
- Very rarely does a person with TSC heart tumors need surgery.