The increased mortality observed in women with Turner’s syndrome is primarily due to cardiovascular complications.

These include:

1. left sided congenital cardiac abnormalities including valve abnormalities, coarctation of the aorta, aortic root dilatation (ARD)
2. aortic dissection
3. hypertension
4. ischaemic heart disease

Congenital cardiac abnormalities occur in 23-40% patients, with bicuspid aortic valve being the most common. Structural cardiac abnormalities are more commonly associated with the 45X karyotype. Left sided cardiac abnormalities are associated with an increased risk of infective endocarditis and antibiotic prophylaxis should be prescribed where indicated (eg prior to dental/ surgical procedures).

Risk factors for aortic dissection are thought to include left sided congenital cardiac abnormalities, hypertension and pregnancy.

Regular echocardiography is routinely used to monitor cardiac status; however, there is evidence that MRI is superior in the assessment of ARD and should be used if ARD is detected and also prior to pregnancy. As women with Turner’s syndrome  are shorter than karyotypically normal women, assessment of aortic root diameter should use normal ranges based on age and body surface area or the ratio between aortic root diameter and descending aorta.

Hypertension is common occurring in up to 40% women with Turner’s syndrome  with the majority of women having no secondary cause (eg coarctation of the aorta or renal disease). It is  a risk factor for aortic dissection and ischaemic heart disease. Hypertension should be treated vigorously according to age-specific normal ranges. The use of ethinyl oestradiol may exacerbate hypertension. Beta blockers and diuretics are the current antihypertensives of choice as vasodilators may exacerbate oedema. Multiple drug therapy is often required. Nocturnal hypertension is often observed in Turner’s syndrome  individuals and 24 hour ambulatory blood pressure monitoring may be required to assist in optimising control.

Evidence suggests that the risk of ischaemic heart disease (IHD) in women with Turner’s syndrome  may be twice that of the general population. Risk factors for IHD include premature menopause, hypertension, dyslipidaemia and insulin resistance.

Electrocardiographic abnormalities including repolarization and conduction defects including QT prolongation are more common in Turner’s syndrome  adults. Electrocardiogrphs (ECG) should be monitored and medication that prolongs the QT interval avoided if this abnormality is detected.

Review by a cardiologist  is essential where any cardiac abnormalities, cardiac symptoms or multiple risk factors for IHD exist and prior to pregnancy.

Content created June 04, 2007