Turner Syndrome and Heart Health

Heart health is especially important for those with Turner Syndrome (TS), as their risk of certain types of heart disease is higher. It is crucial that TS patients receive early cardiac care to avoid serious illness and possibly death. This post outlines various types of heart disease that affect the TS community and how they’re diagnosed and treated. It also discusses some ways caretakers, doctors, and patients can promote heart health, and why it’s crucial for overall well-being.

Note: Everyone’s case is different. Please consult with your cardiologist to discuss your personal risks, diagnoses, and treatments.

Healthy Hearts Mean Healthy Bodies

Heart disease is responsible for approximately one-third of deaths worldwide. The risk increases due to factors like obesity, hypertension, an inactive lifestyle, and poor diet. The recent discovery that underlying heart disease increases the chances of developing a severe case of COVID-19 has opened our eyes, demonstrating that caring for your heart is caring for your whole body.

Congenital heart abnormalities occur in up to 50% of individuals [with TS], affecting mainly the left side of the heart. These issues bicuspid aortic valve (BAV), coarctation of the aorta, and thoracic aortic aneurysm. Mortality rates are three-fold higher in women with TS compared to the general population, with the most common cause of death being cardiovascular disease.

The Link between TS and Heart Disease

TS is the most common chromosomal condition, affecting one in 2,500 individuals born female. TS is caused by a lack of an entire or part of an X chromosome in a cell’s chromosome pair. Since the chromosomes hold DNA–the cell’s building blocks that control its functions–having at least part of the chromosome missing greatly affects the body’s functions. The missing chromosome parts and the affected body systems are unique to each person with TS. However, there are some medical conditions that more commonly affect those with the condition.

The American Heart Association and numerous other studies point to the risk of a person with TS developing heart disease, since TS:

  • often affects many different parts of the body at once;
  • increases the chances of developing diseases, both non-fatal and fatal, more quickly than people without TS (a study from The Journal of Clinical Endocrinology and Metabolism notes that, for people with TS, heart disease is common and a risk factor for getting sick); and
  • frequently raises the risk of metabolic health challenges (related to the way the body breaks down materials to create and use energy, including type 2 diabetes; obesity; and hyperuricemia (when the blood has too much uric acid, a chemical found in urine). 

Due to the common traits mentioned above, heart disease is widely found in those with TS. In fact, a type of heart disease, congenital heart disease, is so prevalent that one study found it affects up to 50% of patients with TS. The American Heart Association (AHA) says another main type of heart disease, acquired heart disease, is also very common in patients with TS, often creating metabolic health challenges, as explained above.

What Is Heart Disease?

The heart is an organ that pumps blood throughout the body via the circulatory system. This supplies oxygen and nutrients to the tissues and organs and removes carbon dioxide and other wastes. Heart disease disturbs the organ’s performance and ability to pump blood efficiently. Since heart function is related to circulation, heart disease can affect all organ systems and cause a wide variety of symptoms.

As shown on the right, the heart’s right side pumps non-oxygenated blood to the lungs. The left side pumps the newly oxygenated blood and nutrients out of the aorta into the rest of the body.

When a doctor takes a patient’s blood pressure, this is how they see it: As your heart muscles pump blood through the body, they push blood towards the sides of the body’s blood vessels, creating systolic pressure

This is a diagram of the heart, courtesy of EZ Med Learning.Com.

When the heart takes a quick break from pumping the blood, it creates diastolic pressure. Systolic heart pressure is usually higher than diastolic pressure, since your body uses more energy to pump the blood.

Types of Heart Disease

Like TS, heart disease is a condition that affects everyone differently. There are two main types of heart disease: congenital and acquired. Congenital heart disease is a condition one is born with. A patient may find out when they’re young that they have it, or they might find out as they get older. Acquired heart disease is a condition that develops as you age. 

Congenital Heart Disease and TS


Risk Factors

Bicuspid aortic valve:

  • bicuspid aortic valve has two flaps instead of the usual three
  • causes problems in the opening of the aortic valve and makes it difficult for the heart to pump blood into the body
  • stenosis (obstruction in the valves)
  • regurgitation (heart being unable to pump blood through the correct blood valves, making it go backwards)
  • aortic dilation (see below)
  • none

Aortic coarctation:

  • part of the aorta narrows
  • causes heart to pump harder to get blood through the aorta and to the rest of the body

  • longer than normal aortic arch
  • aortic dilation (the aorta being larger in diameter than usual)
  • hypertension

Ventricular septal defect:

  • hole in the wall between the heart’s two lower chambers, leading to the mixing of oxygenated and deoxygenated blood
  • causes increased blood pressure and flow in the lungs’ arteries, leading to the heart and lungs working harder than they need to
  • having genetic disorders like TS and Down Syndrome
  • family history of congenital heart disease
  • Asian heritage

Atrial septal defect:

  • hole in the wall between the heart’s two upper chambers, which can lead to the mixing of oxygenated and deoxygenated blood
  • can cause similar effects on the heart and lungs as ventricular septal defects
  • For children and adults:
    • having TS
  • For babies (during mother’s pregnancy):
    • taking certain medications or drugs
    • having diabetes, lupus, or rubella
    • fetal alcohol syndrome
    • obesity

Partial anomalous pulmonary venous connection:

  • blood flow from some of the pulmonary veins returns to the right atrium instead of the left
  • has effects on the heart and lungs similar to atrial septal defects


Acquired Heart Disease and TS


Risk Factors


  • body’s blood vessels have persistently high pressure
  • generally higher than the normal blood pressure of 120 beats per minute systolic and 80 beats per minute diastolic


             Increases with age

Aortic dilation:

  • heart’s aorta grows in diameter above the normal 2.5 centimeters
  • increases the chance of aortic dissection (a life-threatening condition in which a tear occurs in the aorta’s inner layer)
  • blood rushes through the tear, causing the aorta’s inner and middle layers to split
  • if the blood goes out through the aortic wall, can be very serious
  • bicuspid aortic valve
  • aortic coarctation
  • TS-related hypertension
  • TS-related congenital heart disease
  • being pregnant while having TS
  • none (in one study, 11% of TS patients tested had no risk factors for aortic dilation)

Coronary artery disease:

  • caused by plaque buildup in the wall of the arteries that supply blood to the heart (coronary arteries)
  • crucial to keep track of because it can lead to premature atherosclerosis and heart attack
  • hypertension
  • diabetes
  • obesity
  • increased cholesterol levels
  • estrogen deficiency

Diagnosis of Heart Disease in Patients with TS

Below is the process for diagnosing heart disease in patients with TS, according to the AHA:

  • If a doctor has enough evidence to believe that a baby has TS, or a diagnosis has been established before the baby’s birth, the doctor orders a fetal echocardiogram. 
  • If any heart disease is diagnosed, the doctor recommends the family follow up with a pediatric cardiologist, informing them that their baby has TS and heart disease. The doctor and the cardiologist coordinate to ensure the baby’s heart health improves or remains stable.
  • If a doctor sees that a patient’s heart has a bicuspid aortic valve, they should do a genetic test for TS. 

Everyone diagnosed with TS should see a cardiologist who is knowledgeable about how TS contributes to heart disease. The following should be done:

  • a comprehensive physical examination, which includes listening to heart sounds, examination of pulses, and taking blood pressures from all four limbs;
  • a complete transthoracic echocardiography; 
  • visualization of coronary artery anatomy at the first encounter, by transthoracic echocardiogram (TTE) in newborns and infants, or by cardiac magnetic resonance (CMR, or cardiac MRI) or computed tomography (CT) in adults;
  • an electrocardiogram (ECG) to evaluate for potential electrical abnormalities; and 
  • a CMR, as soon as feasible after diagnosis.

After Diagnosis of Heart Disease

After their heart health is examined and their challenges are diagnosed, TS patients are categorized into low-, moderate-, or high-risk groups. Based on the AHA’s guidelines, patients should continue visiting their cardiologist for regular examinations and imaging by TTE or CMR from six months to 10 years, based on multiple factors:

  • age at diagnosis,
  • risk category and presence/absence of bicuspid aortic valve,
  • diagnosis of aortic coarctation, and
  • diagnosis of hypertension. 

Cardiac Treatment Tips for Patients and Caretakers

Because of heart disease’s negative health effects on the body, it is important to diagnose and treat heart health challenges as early as possible. If you have TS or are a caretaker of someone with TS, here are some suggestions from the AHA and others:

  • If you’re a patient with TS and congenital heart disease, visit your cardiologist to get recommendations on how your heart health affects other challenges related to TS. Keep in close contact with your other doctors so they can stay up-to-date with your health.
  • If you’re a patient with TS who does not currently have heart disease, it’s important that your blood pressure be checked at least annually to make sure that your heart stays healthy.
  • If you have a child or young loved one with TS, it’s important for you to start teaching them how to take care of their heart early. This includes having regular checkups with their cardiologist and maintaining good exercise and eating habits. This can reduce the risk of having not only heart disease, but also diabetes, stroke, obesity, and other conditions later in life.

Cardiac Treatment Tips for Medical Professionals


Because all types of heart disease are common in the TS community, if you’re a medical professional, it’s important to regularly monitor and treat your TS patients’ heart health. Here are some ways you can help the TS community stay heart-healthy:

  •  Make sure your younger patients have regular checkups, teaching them healthy heart habits and ensuring you’re giving them the best scientifically backed care will help your patients stay healthy as they grow.
  • It’s recommended that you carefully monitor your patients with TS for hypertension within the standards set for the average person. As stated earlier, hypertension is a common risk factor for many types of heart disease.
  • Surveillance imaging should be done periodically for patients with normal-appearing aortas to ensure that their hearts stay healthy.
  • The AHA also recommends that you review its most recent guidelines to learn current tips on how to take care of all sorts of heart health challenges, like infective endocarditis (an infection of the inner surfaces of the heart–usually of one or more heart valves, inner layer of heart or a defect in the heart’s septum).

Diagnostic Tools

Below are the tools recommended to monitor the cardiac health of a patient with TS:

  • Cardiac imaging is useful for monitoring, assessing, and diagnosing a patient’s cardiac health. It is highly recommended when caring for patients with TS. 
  • TTE helps monitor the aorta’s diameter and how well it’s functioning to help the heart’s blood flow. However, because it can’t catch TS’s effects on the heart as well as other tools, it’s used less.
  • CMR and CT scans ensure the aorta’s not stretching or narrowing too much and the pulmonary veins are connecting to the correct areas of the heart. After diagnosis, depending on how severe the heart issues are, patients with TS should have CMR exams every 6 to 10 years.

How You Can Help

As described above, heart disease is more complex and damaging to the body than meets the eye. Because of this, if you have TS or care for someone with TS, please keep heart health in mind throughout your/their life. Don’t wait until you or your loved one starts having health problems to take action.

Patients and Caregivers

The Turner Syndrome Foundation  (TSF) strongly advocates for the TS community by:

  • spreading awareness to various groups via outreach programs;
  • investing in research and education that help fulfill the TS community’s needs;
  • providing unique support for those living with challenges related to TS; and
  • creating new, free resources to help members of the TS community thrive in any environment.

If you’re someone with TS or a caretaker of someone with TS, you can register in the patient and caregiver registries at  TurnerSyndromeFoundation.org. Learn how to take care of heart health holistically and get contacts for medical care.

You can also use TSF’s website to share medical resources with others in the TS community; find ways to help advocate and spread awareness of TS; and learn how you can become a TSF volunteer.

Medical Professionals

TSF has a broad network of professionals dedicated to TS care. To join them and help the TS community, please join our Professional Membership. This is a professional registry where you can:

  • highlight your practice, reaching out to those with TS seeking care;
  • network with other medical professionals;
  • speak, write, and learn about advances in TS management; and
  • receive free patient materials and exclusive access to the website for TS care.
Professional Membership

Takeaway - What You Can Do Now

  • TS affects multiple organs and systems of the body.
  • Early counselling and holistic care of patients from the TS community can lead to better overall well-being and quality of life for the TS community.
  • Cardiovascular complications are associated with increased illness and death of TS patients.
  • Early screening, diagnosis and management of heart disease in all suspected and diagnosed cases of TS is important.
  • Awareness regarding cardiovascular care among all individuals with TS and  their family/caregivers is vitally important. Patients, family members, and physicians should have a clear understanding of heart disease, available treatments, and the importance of regular, lifetime cardiac care.

Written by Ashish Guragain, TSF volunteer blog writer. Edited by Liz Donner, TSF volunteer blog editor, and Susan Herman, TSF volunteer lead blog editor.




TSF Resources

© Turner Syndrome Foundation 2021

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