Balkan Journal of Medical Genetics

CARDIOVASCULAR DISORDERS OF TURNER’S SYNDROME: A REVIEW
Yuan S-M, Jing H
*Corresponding Author: Hua Jing, Department of Cardiothoracic Surgery, Jinling Hospital, Clinical School of Medicine, Nanjing University, Nanjing 210002, Jiangsu Province, People’s Republic of China; Tel.: +86-25-8480-1332; Fax: +86-25-8482-4051; E-mail: shiminyuan@126.com
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INTRODUCTION

A 45,X karyotype is a common chromosomal abnormality and is characterized by short stature, under development of secondary sexual characteristics, webbed neck and cubitus valgus. It is a genetic disorder caused by the complete or partiaL absence of an X chromosome in some or all cells of a female patient, which prevents the sexual and reproductive organs from developing normally and is usually associated with infertility. First described in 1938 by Dr. Henry Turner, it has been termed as Turner’s syndrome (TS) (also known as 45,X syndrome) [1]. Absent, fragmented, partly deleted or structurally impaired X chromosome in some cells represents the mosaicism of TS, showing less pronounced signs than classical TS, which is characterized by absence of the X chromosome in all cells [2]. Turner’s syndrome occurs in 1 of every 2,000 to 5,000 live female births [3], accounting for about 15% of all spontaneously aborted fetuses [4]. It is responsible for 7-10% of all spontaneous abortions [5]. About 75% of all fetuses prenatally diagnosed with this syndrome were legally terminated in Denmark [6]. In TS, female sexual characteristics are present but under developed [7]. Shortness of stature and of neck, low posterior hair line, broad chest with widely spaced rudimentary nipples, congenital lymphoedema, redundant lax neck skin and hypoplastic nails are the most common clinical features. Turner’s syndrome may be associated with cardiovascular, skeletal, renal, thyroid, cognitive and reproductive disorders and diabetes type II [8]. The renal and cardiovascular anomalies have been found in 87.5 and 45% of the patients, respectively [9]. It has been demonstrated that low circulating levels of sex hormone-binding globulin may be strong predictors for diabetes type II [10]. As the female patients with TS may have low sex hormonebinding globulin, they become very susceptible to diabetes type II [12]. Turner’s syndrome is not usually associated with thrombotic events. In TS patients without thrombosis, levels of factor VIII and von Willebrand factor were much higher than those of the control female subjects [11]. Consequently, the TS patients were placed in a high risk category for cardiovascular events. Furthermore, a 3-fold increase in overall mortality and a minus 13 years life expectancy were expected [13]. Congenital cardiac abnormalities have been described in one-third to half of the patients with TS, the most common of which are bicuspid aortic valve and coarctation of the aorta [14]. Dilatations of the ascending aorta and aortic dissection may develop. Most patients with aortic dilation have an associated risk factor such as bicuspid aortic valve, coarctation of the aorta or systemic hypertension [15]. An echocardiographic evaluation of 594 TS patients revealed a significant difference in the prevalence of cardiovascular malformations between different types of karyotypes, where partial anomalous pulmonary venous drainage and aortic coarctation were more common in the patients with 45,X karyotypes, whereas bicuspid aortic valve and aortic valve disease were phenotypes of X-structural abnormalities [16]. With the popularly used atraumatic diagnostic means, cardiovascular abnormalities were increasingly screened and investigated [17]. The aim of the present article is to make a comprehensive review on the clinical features of the cardiovascular spectrum in TS patients.

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