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. To see a resource from the National Institutes of Health that offers diagrams of the most common heart defects in TS, click HERE.
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. Click HERE to see a 2016 research article titled Pilot Study of Blood Pressure in Girls with Turner Syndrome.
IMPORTANT CARDIAC INFORMATION FOR TURNER SYNDROME
ALL Turner syndrome patients presenting with severe chest pain should be considered for an aortic dissection until findings show otherwise
Although aortic dissection and rupture occur rarely, it is important to know that those with Turner syndrome are at increased risk. Turner syndrome patients with one or more risk factors, including hypertension, bicuspid aortic valve, aortic dilation, and pregnancy present with an even higher risk of aortic dissection. However, 10%-25% of girls and women with Turner syndrome who have experienced aortic dissection had no risk factors aside from a diagnosis of Turner syndrome.
Click HERE to access a downloadable copy of the original source: Turner Syndrome – Know Your Body Refer to pages 103-105.
IMPORTANT CARDIAC RESEARCH ARTICLE
Aortic Dimensions in Turner Syndrome – This 2015 research article comes out of Oregon Health and Sciences University, home of Dr. Michael Silberbach who is a cardiologist, researcher, and long time TS advocate. The information presented in this article will allow clinicians and other caregivers to calculate aortic Z-scores using a Turner-based reference population. Share this resource with your own cardiologist!
Access the Clinical Practice Guidelines here for cardiac guidelines and more
Here is a CARDIAC SCREENING AND MONITORING CHECKLIST that is recommended for every individual or family to use as a guideline for ensuring best care. Be sure to share a copy with your doctors.
Aortic Dilatation & Dissection
Moderate Aortic Enlargement and Bicuspid Aortic Valve Are Associated With Aortic Dissection in Turner Syndrome: Report of the International Turner Syndrome Aortic Dissection Registry – The article provides results from the Aortic Dissection Registry. This valuable information was published in the Circulation , one of the most widely read cardiology journals in the world. The article presents data on the significance of aortic dimensions in Turner syndrome prior to aortic dissection.
Dilation of the ascending aorta in Turner syndrome – a prospective cardiovascular magnetic resonance study 2011 – The risk of aortic dissection is 100-fold increased in Turner syndrome (TS). Unfortunately, risk stratification is inadequate due to a lack of insight into the natural course of the syndrome-associated aortopathy. Therefore, this study aimed to prospectively assess aortic dimensions in TS.
Aortic Dilatation and Dissection in Turner Syndrome 2007 – The risk for aortic dissection is increased among relatively young women with Turner syndrome (TS). It is unknown whether aortic dilatation precedes acute aortic dissection in TS and, if so, what specific diameter predicts impending deterioration.
Aortic Dissection in Turner Syndrome 2008- TS is the most common established cause of aortic dissection in young women, but has received little attention outside of pediatric literature. This review focuses on emerging knowledge of the characteristics of aortic disease in TS in comparison with Marfan-like syndromes and isolated aortic valve disease.
Ascending Aortic Dilatation Associated With Bicuspid Aortic Valve 2009 – Ascending aortic dilatation occurs more frequently and at a younger age in patients with bicuspid aortic valves (BAV) than it does in patients with normal trileaflet aortic valves (TAV).
Coarctation of the Aorta
Visual Resource – NIH U.S. National Library of Medicine
Mayo Clinic Resource – Many girls and women with Turner syndrome were born with heart defects or even slight abnormalities in heart structure that increase their risk of serious complications.
American Heart Association – A narrowing of the major artery (the aorta) that carries blood to the body. This narrowing affects blood flow where the arteries branch out to carry blood along separate vessels to the upper and lower parts of the body. CoA can cause high blood pressure or heart damage.
New York Times – The aorta carries blood from the heart to the vessels that supply the body with blood and nutrients. If part of the aorta is narrowed, it is hard for blood to pass through the artery.
Bicuspid Aortic Valve
Visual Resource – NIH U.S. Library of Medicine
Hypertension and ischemic cardiovascular disease in Turner Syndrome 2006 – Hypertension occurs in many patients with Turner syndrome (TS), probably approaching 50% in aging populations. Hypertension seems to be of the essential type, although the reason for the high frequency is unknown. Hypertension should be looked for, and treated appropriately. Hypertension is probably linked to the frequent occurrence of aortic dissection in TS.
Hypertension and Turner syndrome 2016 – Results show girls with Turner syndrome should be carefully monitored in childhood and adulthood for blood pressure and other cardiovascular risk factors.
Pregnancy and Cardiac Risks
See our page Fertility and Pregnancy for these resources
Additional Research and Resources
Cardiovascular anomalies in Turner syndrome: spectrum, prevalence, and cardiac MRI findings in a pediatric and young adult population 2011
Prolongation of the Cardiac QTc Interval in Turner Syndrome 2006
Major Vascular Anomalies in Turner Syndrome: Prevalence and Magnetic Resonance Angiographic Features 2004
Association Between Fetal Lymphedema and Congenital Cardiovascular Defects in Turner Syndrome 2006
Growth Hormone Treatment and Left Ventricular Dimensions in Turner Syndrome 2007
Prolonged Rate-Corrected QT Interval and Other Electrocardiogram Abnormalities in Girls With Turner Syndrome 2006
Cardiovascular abnormalities in Turner’s syndrome: What prevention? 2008