Clinical and epidemiological description of aortic dissection in Turner's syndrome.
BACKGROUND
Women with Turner's syndrome have an increased risk of congenital cardiac malformations, ischaemic heart disease, hypertension and stroke. Aortic dissection seems to occur with increased frequency.


OBJECTIVE
To describe in more detail aortic dissection as encountered in Turner's syndrome, giving attention to clinical, histological and epidemiological aspects.


METHODS
Based on a retrospective study, we describe the clinical, karyotypic, and epidemiological aspects of aortic dissection as encountered in cases of Turner's syndrome seen in Denmark and Sweden.


RESULTS
The median age at onset of aortic dissection in 18 women was 35 years, ranging from 18 to 61 years. Fourteen of 18 women had a 45,X karyotype, while 2 patients had 45,X/45,XY, and 2 had the 45,X/46,X+r(X) complement, respectively. Echocardiography was performed in 10 of 18 patients before their acute illness, and showed signs of congenital cardiac disease, with either bifoliate aortic valves, dilation of the aortic root, or previous aortic coarctation evident in most patients. In 5 patients evidence of a bifoliate aortic valve was conclusive. Hypertension was present in 5 of 18 patients, while 10 of the patients died from aortic dissection, of so-called type A in 6, type B in 3, while in the final case the origin of dissection could not be determined. Biochemical analysis showed altered ratio between type I and type III collagen. Histology showed cystic medial necrosis in 3 of 7 cases. We estimated an incidence of dissection of 36 per 100,000 Turner's syndrome years, compared with an incidence of 6 per 100,000 in the general population, and a cumulated rate of incidence of 14, 73, 78, and 50 per 100,000 among 0-19, 20-29, 30-39, and 40+ year olds, respectively.


CONCLUSIONS
Aortic dissection is extremely common in the setting of Turner's syndrome, and occurs early in life. Patients with Turner's syndrome should be offered a protocol for clinical follow-up similar to that provided for patients with Marfan syndrome, and each clinic should embrace a programme for follow-up.
Gravholt
Claus Højbjerg
CH
Medical department M (Endocrinology and Diabetes) and Medical Research Laboratories, Arhus Sygehus, Arhus University Hospital, Denmark. ch.gravholt@dadlnet.dk
Landin-Wilhelmsen
Kerstin
K
Stochholm
Kirstine
K
Hjerrild
Britta Eilersen
BE
Ledet
Thomas
T
Djurhuus
Christian Born
CB
Sylvén
Lisskulla
L
Baandrup
Ulrik
U
Kristensen
Bent Østergaard
BØ
Christiansen
Jens Sandahl
JS
D000293:Adolescent; D000328:Adult; D000784:Aortic Dissection / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology; D017545:Aortic Aneurysm, Thoracic / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology; D001706:Biopsy; D003718:Denmark / Q000453:epidemiology; D003937:Diagnosis, Differential; D004452:Echocardiography; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D015994:Incidence; D007621:Karyotyping; D008875:Middle Aged; D011247:Pregnancy; D012189:Retrospective Studies; D012307:Risk Factors; D012720:Severity of Illness Index; D015996:Survival Rate; D014424:Turner Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics