Cardiology in the Young

Original Articles

Aortic distensibility and dilation in Turner’s syndrome

Jayendra Sharmaa1 c1, Deborah Friedmana1, Swati Dave-Sharmaa2 and Madeleine Harbisona2

a1 Department of Pediatrics, Division of Cardiology

a2 Endocrinology, New York Presbyterian Hospital – Cornell Medical Center, 525, East 68th street, New York, NY 10021

Abstract

Background Aortic dilation and dissection is reported in patients with Turner’s syndrome, both with and without cardiovascular risk factors. The bicuspid aortic valve is closely associated with dilated aortic root, although expression of aortic dilation is variable. The determinants for variable expression of aortic dilation in individuals with Turner’s syndrome, however, are unknown.

Hypothesis A primary mesenchymal defect is prevalent in individuals with Turner’s syndrome, suggested by having abnormalities in bone matrix, and lymphatic and peripheral blood vessels. We hypothesize that an abnormal intrinsic elastic property of aorta is a forerunner of aortic dilation in Turner’s syndrome.

Objective Assess utility of aortic distensibility as a measure of aortic elasticity for the stratification of the risk for aortic dilation, and its relationship with age, karyotype, and hormonal therapy.

Design Prospective cross-sectional study.

Patients and method We performed cross-sectional M-mode and Doppler echocardiography in 24 individuals with Turner’s syndrome. Dimensions of the aortic root, and its distensibility, were calculated using standard techniques. We also examined a control group of 24 age matched normotensive patients with structurally normal hearts, who had been referred for evaluation of cardiac murmurs or chest pain.

Results Aortic dilation was the most common cardiac anomaly, seen in 11 of 24 (46%) individuals with Turner’s syndrome, and none in control group. Of these individuals, 5 without cardiovascular risk factors had aortic dilation. In 2 young girls, aortic dimensions were normal, albeit with reduced distensibility. Aortic dilation correlated inversely with aortic distensibility, but not with age, karyotype or hormonal therapy.

Conclusion Individuals with Turner’s syndrome, even without cardiovascular risk factors, do develop aortic dilation accompanied by decreased aortic distensibility, suggestive of an intrinsic abnormality in elastic property of the ascending aorta.

(Received February 25 2009)

(Accepted July 17 2009)

(Online publication October 27 2009)

Correspondence:

c1 Correspondence to: Jayendra Sharma, MD, FACC, Director, Pediatric Cardiology, Jamaica Hospital Medical Center, 8900, Van Wyck expressway, Cardiology Suite-First floor, Jamaica, NY 11418. Tel: 718-206-7138; Fax: 718-206-7144; E-mail: jsharma@jhmc.org