FURTHER DELINEATION OF AORTIC DILATION, DISSECTION, AND RUPTURE IN PATIENTS WITH TURNER-SYNDROME

Objective. Although cardiovascular malformations (CVMs) are well-recog nized congenital anomalies in Turner syndrome, aortic dilation and dis section are less common and less familiar. Most of the relevant litera ture is limited to single cases reports or small series. We sought to increase the information available about the frequency and characteris tics of aortic dilation in patients with Turner syndrome. Design. A 1- page survey of cardiac abnormalities, including aortic dilation, was m ailed to similar to 1000 (1040 verified) members of the Turner Syndrom e Society as an enclosure in the June 1997 newsletter. We also conduct ed a literature review. Participants. A total of 245 patients or famil ies of patient members of the Turner Syndrome Society responded to the survey (similar to 24% response rate). Results. A CVM was reported in 120 of 232 (52%) respondents to this questionnaire. Obstructive lesio ns of the left side of the heart predominated and included bicuspid ao rtic valve (38%) and coarctation (41%). Aortic dilation was reported i n 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 hyperte nsion. The 3 (20%) patients who did not have a CVM or hypertension wer e 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 add itional involvement of the descending aorta distal to a repaired coarc tation. An update of the literature revealed 68 patients with aortic d ilation, 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 p atients). The following patterns of aortic involvement were identified : ascending +/- descending aorta with coarctation (14); ascending +/- descending aorta without coarctation (39); descending aorta with coarc tation (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 informati on is needed about the frequency and natural history of aortic dilatio n in Turner syndrome. This work contributes new patient data and incre ases the literature review. Despite the well-recognized limitations of self-reporting, this survey detected aortic dilation with or without dissection in similar to 6% of patients with Turner syndrome. Although rare, this is a potentially catastrophic occurrence, warranting great er awareness among health professionals. In this study and the literat ure, the vast majority of patients with aortic dilation have an associ ated risk factor such as a CVM, typically bicuspid aortic valve or coa rctation, or systemic hypertension These patients represent a higher r isk group that should be followed appropriately, usually under the dir ection 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 th e long-term care of a cardiologist, makes it prudent to screen all pat ients with Turner syndrome for this potentially lethal abnormality. Th e specific timing for this screening is controversial. Our recommendat ions for prospective imaging do not represent a rigid standard of care .