Cardiac Health
Approximately 30% of individuals with Turner syndrome are diagnosed with congenital heart defects. The most common cardiac defect in TS is a “bicuspid aortic valve,” which means that the valve that regulates blood flow from the heart has two flaps. A typical heart has a tricuspid aortic valve, or a valve with three flaps. This condition is discovered mainly by medical imaging studies and may not be clinically obvious. It requires careful medical monitoring, since bicuspid aortic valves can deteriorate or become infected. Comprehensive screening and evaluation by a cardiologist with expertise in congenital heart conditions is essential for all patients with Turner syndrome at the time of diagnosis. The evaluation should include cardiac magnetic resonance as well as echocardiography and EKG/ECG.
Between 5 and 10% of children with Turner syndrome have been found to have a severe constriction of the major blood vessel coming out from the heart, a condition known as “coarctation of the aorta.” This can be surgically corrected as soon as it is diagnosed and requires lifelong monitoring.
Many women with Turner syndrome have high blood pressure, which may be apparent even in childhood. In some cases this high blood pressure may be due to aortic constriction or to kidney abnormalities. In a majority of women, however, no specific cause for the high blood pressure has been found.
Aortic Dilatation and Dissection in Turner Syndrome
Turner syndrome greatly increases aortic dissection risk. An aortic size index above 2.5 cm/m² signals highest risk, requiring close cardiovascular surveillance.
View Resource →Aortic Dissection in Turner Syndrome
Aortic dissection in Turner syndrome is linked to bicuspid aortic valve. Preventive surgery is recommended when aortic size index exceeds 2.5 cm/m².
View Resource →Aortic Dissection in Turner Syndrome
View Resource →Aortic Valve Disease in Turner Syndrome
Bicuspid aortic valve affects 30% of Turner syndrome patients and is linked to aortic root dilation, making focused aortic valve and root screening essential.
View Resource →Association Between Fetal Lymphedema and Congenital Cardiovascular Defects in Turner Syndrome
Neck webbing in Turner syndrome strongly predicts bicuspid aortic valve and coarctation, suggesting fetal lymphatic obstruction drives cardiovascular defects.
View Resource →Blood Pressure in Girls With Turner Syndrome
Hypertension affects 42% of girls with Turner syndrome but often goes undiagnosed. Obesity and aortic coarctation history further increase cardiovascular risk.
View Resource →Cardiovascular Abnormalities in Turner’s Syndrome
Cardiovascular disease reduces life expectancy by over 10 years in Turner syndrome. Key risks include bicuspid aortic valve, hypertension, and aortic dissection.
View Resource →Cardiovascular Anomalies in Turner Syndrome
Cardiac MRI reveals high rates of aortic abnormalities and bicuspid aortic valve in Turner syndrome, supporting the need for periodic cardiovascular screening.
View Resource →Cardiovascular Disease in Turner Syndrome
Read →Coarctation of the Aorta Overview
Coarctation of the aorta narrows the main artery from the heart, causing blood pressure imbalances. It is treatable with surgery or catheter-based procedures.
View Resource →Dilation of the Ascending Aorta in Turner Syndrome
Aortic dilation in Turner syndrome is common and often asymptomatic. Regular MRI surveillance is essential to detect progression and prevent dissection.
View Resource →Electrocardiogram Abnormalities in Girls With Turner Syndrome
ECG abnormalities including prolonged QTc are intrinsic to Turner syndrome from a young age, making routine ECG monitoring important for all patients.
View Resource →Growth Hormone Treatment and Left Ventricular Dimensions in Turner Syndrome
Growth hormone treatment in Turner syndrome increases height without disproportionately affecting cardiac dimensions, suggesting it is cardiovascularly safe.
View Resource →Hypertension and Ischemic Cardiovascular Disease in Turner Syndrome
Hypertension affects up to 50% of Turner syndrome patients, raising aortic dissection risk. Cardiovascular monitoring and beta-blocker therapy are recommended.
View Resource →Major Vascular Anomalies in Turner Syndrome
Vascular anomalies affect about 50% of Turner syndrome patients, including aortic coarctation and arch elongation, underscoring the need for MRI screening.
View Resource →Prolongation of the Cardiac QTc Interval in Turner Syndrome
Turner syndrome involves intrinsic cardiac conduction abnormalities including prolonged QTc, suggesting ECG analysis should be included in routine monitoring.
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