Turner syndrome (TS) has a strong association with congenital heart conditions and acquired cardiovascular conditions. Congenital heart disease (CHD) can be found in up to half of individuals with TS and cardiovascular complications are the leading cause of death in this group (De Groote et al., 2025).
Regular screening is essential to the early detection and proper management of CHD, and all individuals with TS and/or their caregivers should consult a cardiologist to form a screening and/or treatment plan.
This article will cover common congenital heart conditions in individuals with TS, genetic correlations, screening guidelines, diagnosis techniques, and lifestyle guidance.
Genetic/Developmental Causes of CHD
The exact cause of the strong association between TS and CHD is not fully known. Heart development requires many complex interactions controlled by a variety of genes that could be influenced by the genetic mutations characteristic of TS. One theory is that the abnormalities in lymphatic development may be associated with fetal lymph accumulation that could affect heart development (de Groote et al., 2025).
CHD is more prevalent in individuals who have monosomy X (only one X chromosome) compared to those who have additional chromosome material or mosaicism (de Groote et al., 2025).
Congenital Heart Disease (CHD) and TS
A congenital heart condition is an abnormality in the formation of the heart’s structure that is present at birth, keeping blood from flowing normally in and out of the heart (Congenital Heart Disease, 2026).
The following are some of the most common CHD abnormalities associated with TS. It is important to note that other, more rare abnormalities may occur.
Bicuspid Aortic Valve
Bicuspid aortic valve (BAV) is the most common CHD in individuals with TS, and may even be considered an independent marker of TS in undiagnosed individuals (Silberbach et al., 2018).
The aortic valve, through which oxygenated blood flows from the heart to the body, normally has three cusps (flaps of tissues) that open and close with each heartbeat. In BAV, the valve only has two cusps, or more rarely one or four cusps. This can result in narrowing of the aortic valve (stenosis) reducing blood flow to the body, backward flow of blood (regurgitation), or an enlarged aorta with increased risk of tearing (dissection) (MayoClinic Staff, 2024).
Diagnosis of BAV may be challenging in individuals with TS. This is because the main method of BAV diagnosis, echocardiographic imaging, can be hindered by low image quality and extensive valve calcification. These factors are more common in individuals with TS due to co-occurring health conditions such as scoliosis and lymphedema (de Groote et al., 2025). However, specialized pediatric and adult cardiac centers have the experience and equipment necessary to recognize abnormalities and make a timely diagnosis.
BAV may not necessitate intervention, and long-term monitoring via imaging such as MRI may be implemented to check for changes in aortic size that could lead to further complications. Surgery such as valve replacement or graft may be required depending on how severe the abnormality is or, if it is causing other cardiovascular complications mentioned above (MayoClinic Staff, 2024).
This image shows a bicuspid aortic valve, which has only two flaps instead of the usual three, narrowing the pathway for blood to flow through (stenosis).
Image source: Mayo Clinic
Aortic Coarctation and Aortic Arch Abnormalities
Aortic coarctation refers to the narrowing of part of the aorta, which carries oxygenated blood from the heart to the body. This forces the heart to apply more pressure to pump the same amount of blood, causing strain and potential complications (MayoClinic Staff, 2026).
Complications of aortic coarctation can include rupture of the aorta, brain aneurysm, aortic aneurysm, high blood pressure, coronary artery disease, brain bleeding, and stroke. (MayoClinic Staff, 2026).
Not all cases of aortic coarctation are the same, as there can be different degrees of obstruction. Some mild cases may not require treatment (de Groote et al., 2025).
Medications and surgery are available as both short and long-term treatments for aortic coarctation, but the application of one or more of these procedures is highly dependent on the specific condition of the patient and should be discussed with a specialist (MayoClinic Staff, 2026).
Other aortic arch abnormalities such as elongation of the transverse arch and aberrant right subclavian artery (ARSA) may be found alone or alongside coarctation and are diagnosed by the same methods (De Groote et al., 2025).
This image shows aortic coarctation, where the narrowing results in decreased blood flow through the aorta and out to the body.
Image source: Mayo Clinic
Partial Anomalous Pulmonary Venous Return (PAPVR)
In PAPVR, the pulmonary veins that normally return oxygenated blood to the left side of the heart so it can be sent out to the body are misdirected, delivering some back to the right side of the heart, where it mixes with deoxygenated blood. This higher volume in the right side of the heart increases its load, potentially affecting overall function (Partial Anomalous Pulmonary Venous Return, 2026).
In children, PAPVR can cause delays in growth, tiredness during exercise, recurrent respiratory infections, shortness of breath, and trouble gaining weight (Partial Anomalous Pulmonary Venous Return, 2026).
It is thought that PAPVR is under-diagnosed even in well-screened individuals with TS because it is difficult to detect via echocardiogram and often needs MRI for diagnosis (de Groote et al., 2025).
Many cases of PAPVR are mild enough that they do not require surgical treatment. However, PAPVR in children is more likely to require surgery, especially if the individual has additional heart conditions (Partial Anomalous Pulmonary Venous Return, 2026). Consultation with specialists can help to determine what level of care is necessary for each individual case.
Other CHD conditions
The conditions discussed above are the most common among individuals with TS. There are other conditions that occur at lower frequency still above that of the general population, such as other valve abnormalities, septal defect, or hypoplastic left heart syndrome (Silberbach et al., 2018). Read more about hypoplastic left heart syndrome here.
Symptoms of CHD
Symptoms of CHD may present at birth or later in life, depending on the severity of the condition. They may include (Congenital Heart Disease, 2026):
- Cyanosis (bluish skin, lips or nails).
- Excessive sleepiness.
- Fast breathing or trouble breathing.
- Fatigue (extreme tiredness).
- Getting unusually tired or out of breath during exercise.
- Heart murmur (a swishing sound your heart makes that may indicate abnormal blood flow).
- Poor blood circulation.
- Weak pulse or pounding heartbeat.
Techniques for CHD diagnosis/monitoring
Transthoracic echocardiogram (TTE)
TTE uses ultrasound to image the heart and is minimally invasive (Cleveland Clinic, 2026). This makes it the primary diagnostic technique for CHD in infants and children, as it does not require sedation. However, individuals ith TS may have other symptoms or structural abnormalities that may make diagnosis of certain conditions, including aortic valve abnormalities and PAPVR, difficult (de Groote et al., 2025).
Magnetic resonance imaging (MRI)
MRI uses a magnetic field and radio waves to generate a 3D image of organs and tissues (Mayo Clinic Staff, 2023). To undergo MRI, young children generally need to be under anesthesia, but it is the gold standard for detailed structural and functional cardiovascular imaging. This technique is especially adept at detecting PAPVR, BAV, and aortic arch abnormalities (de Groote et al., 2025).
Computerized tomography (CT) scan
CT scans use X-ray techniques to create detailed cross-sectional images of the body, including soft tissues and blood vessels (Mayo Clinic Staff, 2024). This can be a good alternative for when MRI is not available or tolerated, but due to the radiation exposure, it is not recommended for repeated surveillance or pregnant individuals (de Groote et al., 2025).
Screening Guidelines for CHD
Prenatal screening
If genetic testing has shown that a fetus may have TS of any karyotype, prenatal evaluation should include fetal echocardiography and include consultation with a cardiologist (De Groote et al., 2025).
Fetal echocardiograms are limited, especially for the detection of BAV and coarctation, but they can detect more severe conditions such as critical coarctation and HLHS. Depending on the results, parents may be referred to a pediatric cardiologist to provide consultation and guidance about any abnormalities and planning for the perinatal management of the condition (De Groote et al., 2025).
Postnatal screening
TTE imaging is recommended for every infant with TS, even if a fetal echocardiogram was normal. For stable newborns, TTE is recommended within the first 2-3 days of life, but if symptoms of a CHD condition are observed, doctors may recommend an earlier screening (De Groote et al., 2025).
Some research shows that the prevalence of CHD may be higher if the pregnancy involved complications such as gestational diabetes, hypertension, preterm birth, or other adverse events (de Groote et al., 2025). Therefore, if such events occurred, parents should take additional care to properly screen for CHD conditions.
Lifetime Screening
A cardiac echo is recommended at the time of diagnosis of Turner syndrome, at approximately 9-11 years of age, at the completion of growth hormone treatment, and then at least every 5 years if no heart issues are detected or more frequently if heart issues are present, according to the Clinical Care Guidelines. For individuals with no known structural heart disease, annual blood pressure tests should be performed to monitor cardiovascular health (Silberbach et al., 2018).
Individuals with known structural heart disease or other risk factors should consult with a cardiologist for guidance on management and long-term monitoring. Depending on the level of risk, recommendations will likely include repeated TTE and/or MRI surveillance at time intervals proportional to risk (Silberbach et al., 2018).
A note on exercise
Although CHD may raise the risk of adverse health events while under cardiovascular strain, such as when playing competitive sports, the AHA recommends that low risk individuals stand to gain much more from the benefits of exercise. The AHA has specific guidelines for safe and beneficial levels of exercise based on quantitative diagnostic criteria of CHD conditions. A cardiologist should be consulted before participation in competitive sports to ensure that these guidelines are being met to reduce the risk of adverse events (Silberbach et al., 2018).
Sports can be classified by their static and dynamic components, which are relative to their cardiovascular demands.
This figure shows sports with the lowest cardiovascular demand in the palest color, with increased dynamic load depicted in blue and increased static load depicted in red.
Image source: AHA
Conclusion
CHD and cardiovascular health is the preeminent concern for individuals with TS. Reducing the risk of complications requires management that depends on detection, and regular screening before and after birth, as well as throughout life.
The level of risk associated with a congenital heart abnormality may vary depending on the exact structure of the abnormality, and each individual should be evaluated by a specialist for personalized recommendations. All individuals diagnosed with TS should meet with a cardiologist to evaluate their risks and screen for any congenital abnormalities.
Written By Nadia Kim, TSF Volunteer Blog Writer and designed by Adrianna Verzolini
© Turner Syndrome Foundation, 2026
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