Further Delineation of Aortic Dilation, Dissection, and Rupture in Patients With Turner Syndrome

Objective. Although cardiovascular malformations (CVMs) are well-recognized congenital anomalies in Turner syndrome, aortic dilation and dissection are less common and less familiar. Most of the relevant literature is limited to single cases reports or small series. We sought to increase the information available about the frequency and characteristics of aortic dilation in patients with Turner syndrome. Design. A 1-page survey of cardiac abnormalities, including aortic dilation, was mailed to ;1000 (1040 verified) members of the Turner Syndrome Society as an enclosure in the June 1997 newsletter. We also conducted a literature review. Participants. A total of 245 patients or families of patient members of the Turner Syndrome Society responded to the survey (;24% response rate). Results. A CVM was reported in 120 of 232 (52%) respondents to this questionnaire. Obstructive lesions of the left side of the heart predominated and included bicuspid aortic valve (38%) and coarctation (41%). Aortic dilation was reported in at least 15 of 237 respondents (6.3%; 95% confidence interval: 3.6%-10.3%); 2 of 15 (13%) had dissection. Twelve of 15 (80%) patients had an associated risk factor for aortic dilation such as a CVM or hypertension. The 3 (20%) patients who did not have a CVM or hypertension were all younger than 21 years. In the entire group with aortic dilation, 10 of 15 (67%) patients were younger than 21 years. All patients with aortic dilation had involvement of the ascending aorta, and 2 had additional involvement of the descending aorta distal to a repaired coarctation. An update of the literature revealed 68 patients with aortic dilation, dissection, or rupture. An associated CVM or hypertension was reported in 53 of 59 (90%) informative patients. At least 6 (10%) had no predisposing risk factor (information was inadequate for 9 of 68 patients). The following patterns of aortic involvement were identified: ascending 6 descending aorta with coarctation (14); ascending 6 descending aorta without coarctation (39); descending aorta with coarctation (3); descending thoracic or abdominal aorta without coarctation (4); and unspecified (8). Dissection or rupture was reported in 42/68 (62%). Two reported patients died suddenly from aortic dissection in the third trimester of assisted pregnancy. At least 20 (29%) patients were younger than 21 years. One of the 6 (17%) patients with isolated aortic dilation was in this younger group. Conclusions. More information is needed about the frequency and natural history of aortic dilation in Turner syndrome. This work contributes new patient data and increases the literature review. Despite the well-recognized limitations of self-reporting, this survey detected aortic dilation with or without dissection in ;6% of patients with Turner syndrome. Although rare, this is a potentially catastrophic occurrence, warranting greater awareness among health professionals. In this study and the literature, the vast majority of patients with aortic dilation have an associated risk factor such as a CVM, typically bicuspid aortic valve or coarctation, or systemic hypertension. These patients represent a higher risk group that should be followed appropriately, usually under the direction of a cardiologist. Patients undergoing assisted pregnancy also should be evaluated closely. It is generally accepted that at the time of diagnosis of Turner syndrome, all patients should have a complete cardiology evaluation including echocardiography. The small number of patients with aortic dilation without a CVM, who would not be under the long-term care of a cardiologist, makes it prudent to screen all patients with Turner syndrome for this potentially lethal abnormality. The specific timing for this screening is controversial. Our recommendations for prospective imaging do not represent a rigid standard of care. Pediatrics 1998;102(1). URL: http://www.pediatrics.org/cgi/content/full/102/1/ e12; Turner syndrome, cardiovascular malformation, dysmorphic syndrome, aortic dilation, aortic dissection. ABBREVIATIONS. CVM, cardiovascular malformation; BAV, bicuspid aortic valve; AS, aortic stenosis; COA, coarctation; AR, aortic regurgitation; AV, aortic valve; ARD, aortic root dilation; MVP, mitral valve prolapse; MVR, mitral valve regurgitation; PAPVR, partial anomalous pulmonary venous return. Cardiovascular malformations (CVMs), or congenital heart defects, are well-recognized anomalies in Turner syndrome, occurring in ;75% of fetuses and 35% of patients.1,2 Most commonly observed are obstructive lesions of the left side of the heart, including bicuspid aortic valve (BAV), with or without aortic stenosis (AS), and coarctation (COA) of the aorta.1–3 Less familiar, and much less common, is aortic dilation, which in some patients may lead to dissection, rupture, and death (Table 1).4–33 The dilation typically involves the root of the ascending aorta, occasionally extending through the aortic arch to the descending aorta, or at the site of previous COA repair. One study estimated a prevalence of aortic From the *Genetics and Teratology Unit, Massachusetts General Hospital, Boston, Massachusetts; ‡Peptide Hormones Group, Pharmacia & Upjohn and the Department of Pediatrics, UCLA School of Medicine, Los Angeles, California; and the §Department of Pediatrics, Oregon Health Sciences University, Doernbecher Children’s Hospital, Portland, Oregon. Received for publication Dec 22, 1997; accepted Mar 2, 1998. Reprint requests to (A.E.L.) Genetics and Teratology Unit, Massachusetts General Hospital, Warren 801, 32 Fruit St, Boston, MA 02114. PEDIATRICS (ISSN 0031 4005). Copyright © 1998 by the American Acad-