Clinical and epidemiological description of aortic dissection in Turner's syndrome

• Published in: Cardiology in the young Vol. 16; no. 5; pp. 430 - 436
• Main Authors: Højbjerg Gravholt, Claus, Landin-Wilhelmsen, Kerstin, Stochholm, Kirstine, Eilersen Hjerrild, Britta, Ledet, Thomas, Born Djurhuus, Christian, Sylvén, Lisskulla, Baandrup, Ulrik, Østergaard Kristensen, Bent, Sandahl Christiansen, Jens
• Format: Journal Article
• Language: English
• Published: Cambridge, UK Cambridge University Press 01.10.2006
• Subjects: Adolescent; Adult; Aneurysm; Aneurysm, Dissecting - diagnosis; Aneurysm, Dissecting - epidemiology; Aneurysm, Dissecting - etiology; Aortic Aneurysm; Aortic Aneurysm, Thoracic - diagnosis; Aortic Aneurysm, Thoracic - epidemiology; Aortic Aneurysm, Thoracic - etiology; aortic dilation; bifoliate aortic valve; Biopsy; Blood pressure; complications; Congenital cardiac malformations; Denmark; Denmark - epidemiology; diagnosis; Diagnosis, Differential; Differential; Dissecting; Dissection; Echocardiography; epidemiology; etiology; Female; Follow-Up Studies; genetics; Humans; Incidence; Karyotyping; MEDICAL AND HEALTH SCIENCES; Medical research; MEDICIN OCH HÄLSOVETENSKAP; Middle Aged; Original Article; Patients; Pregnancy; Research methodology; Retrospective Studies; Risk Factors; Severity of Illness Index; Studies; Surgery; Survival Rate; Thoracic; Turner Syndrome; Turner Syndrome - complications; Turner Syndrome - diagnosis; Turner Syndrome - genetics; Womens health; Denmark; Congenital cardiac malformations; bifoliate aortic valve; aortic dilation
• ISSN: 1047-9511; 1467-1107
• DOI: 10.1017/S1047951106000928

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