Spectrum of cardiovascular abnormalities in Turner syndrome

Haploinsufficiency for the X-chromosome in females has important and multifaceted effects upon the cardiovascular system. Girls with Turner syndrome (TS) may demonstrate anatomic malformations affecting the heart, aorta and other major vessels, hypertension and abnormalities of heart rate, cardiac conduction and repolarization. The aorta is dilated in almost 50% of patients and aortic deterioration with aneurysm, dissection and rupture occurs with increased frequency in young and middle-aged patients. Finally many women with TS experience premature onset of coronary artery disease. This chapter reviews the more recent scientific literature regarding these abnormalities.