From 5-10% of children with Turner syndrome are 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.

Other major defects in the heart and its major vessels are reported to a much lesser degree. Approximately 30% of individuals with Turner syndrome are reported to have “bicuspid aortic valves,” meaning that the major blood vessel from the heart has only two rather than three components to the valve regulating blood flow. This condition has been discovered mainly by medical imaging studies on women without symptoms, 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 evaulation should include cardiac magnetic resonance as well as echocardiography and ECG.

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.  From the National Institutes of Health, click here to access source.

alert button

CARDIAC ALERT

IMPORTANT CARDIAC INFORMATION FOR TURNER SYNDROME

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.  Click here for the full text.

Click here to access the original source:   Turner Syndrome – Know Your Body  Refer to pages 103-105.

NEW RESEARCH

2015 NEW RESEARCH ARTICLE

box 6

 

Aortic Dimensions in Turner Syndrome – This recent 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! June 2015

 

 

 


Aortic Dilatation & Dissection

 

box 61

 

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.

 

 

box 17

 

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.

 

 

 

box 1

 

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.

 

 

 

box 11

 

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.

 

 

 

box 23

 

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

box 22

 

Visual Resource – NIH U.S. National Library of Medicine

 

 

 

 

box 19

 

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.

 

 

 

 

box 20

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.

 

 

 

box 18

 

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.

 

 

 

 

BicuspidAorticValve

Bicuspid Aortic Valve


box 26

 

Visual Resource – NIH U.S. Library of Medicine

 

 

 

 


box 24

 

Valvular Heart Disease

 

 

 


Hypertension


box 5

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.

 

 

 

 

box 15

 

 

Blood pressure and Turner syndrome – 2000 – 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

 

 

video button 1

Additional Research and Resources

Click here to access the VIDEO   Cheryl L Maslen, Ph.D., Professor of Cardiovascular Medicine and of Molecular and Medical Genetics and Michael Silberbach, M.D., Professor of Pediatric Cardiology at Oregon Health & Science University discuss the Turner Syndrome research being done by the GenTAC team. They highlight the incidence of aortic disease in this patient population and discuss the research on genetic associations.