Rett Syndrome and Heart Issues: Must Knows

Rett syndrome is best known for how it affects movement, communication, and development. You may not realize that some people with Rett syndrome develop heart problems. For parents and caregivers, it’s important to understand all potential complications of this rare syndrome.

Research shows that people with Rett syndrome may have a higher risk of certain heart issues, particularly abnormal heart rhythms and changes in heart rate. These problems are usually not obvious but can have a major impact on overall health. Understanding what to watch for, how heart issues are monitored, and what care may be needed can help families feel more prepared.

What Is Rett Syndrome?

Rett syndrome is a genetic neurological disorder that mostly affects girls, according to BMJ Paediatrics Open. This condition is most often caused by random mutations (changes) in the MECP2 gene, which plays an important role in brain development and nervous system function.

Most children with Rett syndrome appear to develop normally for the first six to 18 months of life. Over time, they slowly lose previously learned skills, such as purposeful hand movements and spoken language. Common features of Rett syndrome include:

• Loss of motor skills and coordination
• Limited or absent speech
• Repetitive hand movements, such as wringing or tapping
• Breathing changes, such as breath-holding or rapid breathing
• Scoliosis (an abnormal sideways curve of the spine)
• Seizures (bursts of abnormal brain activity that can cause uncontrolled movements)
• Gastrointestinal problems, such as reflux or constipation
• Swallowing difficulties, which can affect safe eating and drinking

Rett syndrome is a lifelong condition with no cure. Treatment focuses on managing symptoms and preventing or delaying complications. Care usually involves a team of healthcare professionals who support medical needs, development, and quality of life.

Causes of Heart Problems in Rett Syndrome

The heart and nervous system are closely connected. In Rett syndrome, changes in brain function can disrupt how the heart regulates its rhythm. These changes are largely related to problems in the autonomic nervous system, which controls automatic body functions such as breathing, heart rate, and digestion.

Although many people with Rett syndrome never develop heart problems, studies show that they may have an increased risk of arrhythmias (abnormal heart rhythms), reduced heart rate variability, and prolonged electrical signals in the heart that can lead to dangerous rhythms. These heart problems may be related to several factors, including:

• MECP2 gene dysfunction — The MECP2 gene affects how other genes are turned on and off in the brain. When MECP2 doesn’t work properly, pathways involved in controlling heart rhythm may be disrupted.
• Abnormal brain-heart communication — Brain regions that regulate breathing and heart rhythm may not function normally in Rett syndrome. This can lead to irregular breathing patterns and abnormal heart rate responses.
• Breathing abnormalities — Breathing problems such as breath-holding or hyperventilation (breathing too quickly) are common in Rett syndrome and may place extra stress on the heart, especially during sleep or illness.

Common Heart Rhythm Problems in Rett Syndrome

Two main types of heart rhythm changes are sometimes seen in people with Rett syndrome — arrhythmias and reduced heart rate variability.

Arrhythmias

In Rett syndrome, arrhythmias are among the most well-documented heart issues. Different types of arrhythmias have different symptoms and risks. Some of the arrhythmias linked to Rett syndrome include:

• Long QT syndrome — A prolonged QT interval on an electrocardiogram (ECG) reflects a delay in the heart’s electrical recovery after each beat. This condition can increase the risk of dangerous heart rhythms and sudden unexpected death.
• T-wave changes — Flat or upside-down T waves on an ECG reflect changes in how the heart resets its electrical activity between beats.
• Bradycardia (a slower-than-normal heart rate)
• Tachycardia (a faster-than-normal heart rate)

About 1 in 5 people with Rett syndrome have a prolonged QT interval. The risk of developing this problem can vary depending on age, genetics, and overall health.

Changes in Heart Rate Variability

Heart rate variability refers to the small, normal changes in the time between heartbeats. Healthy variability reflects balanced activity of the autonomic nervous system. Studies have shown that people with Rett syndrome often have reduced heart rate variability, which may make the heart less adaptable to stress, illness, or changes in breathing.

The Challenge of Silent Symptoms

One challenge of heart issues in Rett syndrome is that they’re often silent. People with Rett syndrome and their families may not notice any symptoms.

Some individuals may experience signs or symptoms of changes in the autonomic nervous system, including:

• Dizziness, anxiety, or panic
• Cold hands and feet
• Agitation and irritability

However, most children and adults with Rett syndrome don’t show clear symptoms of heart problems related to Rett syndrome. These issues may be detected only during exams or testing, such as ECGs or Holter monitors, which are portable devices that track heart rhythms over time.

Because symptoms may be subtle or absent, routine monitoring is an important part of care.

Heart Monitoring and Screening Recommendations

While there’s no single universal guideline for heart monitoring, many health experts recommend that people with Rett syndrome receive regular heart evaluations. Your care team may recommend monitoring and prevention steps such as:

• A baseline ECG after diagnosis and referral to a cardiologist (heart doctor) if the results are abnormal
• Yearly ECGs, especially during childhood and adolescence
• An ECG before receiving anesthesia
• Holter monitoring if abnormalities are detected
• Avoiding medications that may prolong the QT interval
• Additional monitoring during illness or medication changes

A pediatric or adult cardiologist familiar with Rett syndrome can help determine how often testing is needed.

Treatment for Heart Issues in Rett Syndrome

Treatment options depend on the type and severity of the heart rhythm problem. Strategies include:

• Observation and monitoring — In many cases, mild abnormalities are monitored over time without immediate treatment.
• Medications — If arrhythmias pose a risk, medications may be recommended to help stabilize the heart rhythm.
• Management of contributing factors — Your healthcare team may treat other Rett-related issues, like breath-holding, infections, or seizures.
• Emergency planning — For higher-risk individuals, doctors may recommend emergency plans for caregivers and schools, including guidance on when to seek immediate care.

Life Expectancy and the Importance of a Specialized Care Team

Life expectancy in Rett syndrome has improved significantly over time, and many individuals now live into adulthood.

Heart issues, especially arrhythmias, are believed to contribute to the risk of sudden unexpected death in Rett syndrome. However, this outcome remains rare, and careful monitoring can help reduce risk.

Because Rett syndrome affects many parts of the body, care is best managed by a specialized medical team. In addition to a pediatric or adult cardiologist, this team of healthcare specialists may include:

• A neurologist
• A pulmonologist
• An orthopedist
• Physical, occupational, and speech therapists
• A gastroenterologist
• A dietitian or nutritionist

Specialized Rett clinics bring together providers who have experience treating this rare condition. Seeing doctors at a specialty Rett clinic can help families receive coordinated care in one place.

Steps Parents and Caregivers Can Take

If you are a caregiver for someone with Rett syndrome:

• Ask whether a heart evaluation is part of their care plan.
• Keep records of ECGs and other heart-related tests.
• Report new symptoms, especially fainting or color changes such as bluish lips or skin.
• Keep track of all medications.
• Seek care from providers or clinics with experience in treating Rett syndrome.

Staying informed and proactive can make a meaningful difference in your child’s quality of life.

Join the Conversation

On MyRettTeam, people share their experiences with Rett syndrome, get advice, and find support from others who understand.

Does your loved one have heart problems related to Rett syndrome? Let others know in a comment below.